A Hiperplasia Adrenal Congênita (HAC) é uma doença hormonal hereditária (passada de pais para filhos). Ela é causada pela falta de uma enzima importante para a produção de alguns hormônios no corpo. Essa condição faz com que as glândulas suprarrenais (que ficam acima dos rins) não funcionem corretamente e pode levar a sinais de excesso ou falta de hormônios masculinos (andrógenos), variando conforme o tipo e a gravidade da doença.
Introdução
O que você precisa saber de cara
Deficiência de 17 alfa(α)-hidroxilase/17,20-liase é uma condição que afeta a função de certas glândulas produtoras de hormônios chamadas gônadas (ovários nas mulheres e testículos nos homens) e das glândulas adrenais. As gônadas dirigem o desenvolvimento sexual antes do nascimento e durante a puberdade e são importantes para a reprodução. As glândulas adrenais, que estão localizadas sobre os rins, regulam a produção de certos hormônios, incluindo aqueles que controlam os níveis de sal no corpo. Pessoas com deficiência de 17α-hidroxilase/17,20-liase têm um desequilíbrio de muitos dos hormônios produzidos nessas glândulas. A deficiência de 17α-hidroxilase/17,20-liase é um dos grupos de distúrbios, conhecidos como hiperplasias adrenais congênitas, que comprometem a produção hormonal e interrompem o desenvolvimento e a maturação sexual.
Os desequilíbrios hormonais levam aos sinais e sintomas característicos da deficiência de 17α-hidroxilase/17,20-liase, que incluem pressão arterial alta (hipertensão), baixos níveis de potássio no sangue (hipocalemia) e desenvolvimento sexual anormal. A gravidade das características varia. Duas formas da condição são reconhecidas: deficiência completa de 17α-hidroxilase/17,20-liase, que é mais grave, e deficiência parcial de 17α-hidroxilase/17,20-liase, que geralmente é menos grave.
Homens e mulheres são afetados pelas interrupções no desenvolvimento sexual de maneira diferente. Mulheres (que têm dois cromossomos X) com deficiência de 17α-hidroxilase/17,20-liase nascem com genitália externa feminina normal; porém, os órgãos reprodutivos internos, incluindo útero e ovários, podem estar subdesenvolvidos. Mulheres com deficiência completa de 17α-hidroxilase/17,20-liase não desenvolvem características sexuais secundárias, como seios e pelos pubianos, e não menstruam (amenorreia). Mulheres com deficiência parcial de 17α-hidroxilase/17,20-liase podem desenvolver algumas características sexuais secundárias; a menstruação costuma ser irregular ou ausente. Qualquer forma do distúrbio resulta em incapacidade de conceber um bebê (infertilidade).
Em indivíduos afetados que são cromossomicamente masculinos (possuindo um cromossomo X e um Y), problemas no desenvolvimento sexual levam a anomalias da genitália externa. Os mais gravemente afetados nascem com genitália externa tipicamente feminina e geralmente são criados como mulheres. No entanto, como não possuem órgãos reprodutivos internos femininos, essas pessoas apresentam amenorreia e não desenvolvem características sexuais secundárias femininas. Elas têm testículos, mas estes estão anormalmente localizados no abdômen (não descidos). Às vezes, a deficiência completa de 17α-hidroxilase/17,20-liase resulta em genitália externa que não parece claramente masculina nem claramente feminina. Homens com deficiência parcial de 17α-hidroxilase/17,20-liase podem ter um pênis pequeno (micropênis), a abertura da uretra na parte inferior do pênis (hipospadia) ou um escroto dividido em dois lobos (escroto bífido). Homens com deficiência completa ou parcial de 17α-hidroxilase/17,20-liase também são inférteis.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA Hiperplasia Adrenal Congênita (HAC) é uma doença hormonal hereditária (passada de pais para filhos). Ela é causada pela falta de uma enzima importante para a produção de alguns hormônios no corpo. Essa condição faz com que as glândulas suprarrenais (que ficam acima dos rins) não funcionem corretamente e pode levar a sinais de excesso ou falta de hormônios masculinos (andrógenos), variando conforme o tipo e a gravidade da doença.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 130 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 220 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Curadoria gene-doença
fontes oficiaisAdrenal hyperplasia 3
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
Diarrhea 6
A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.
Adrenal hyperplasia 4
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
Adrenal hyperplasia 2
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.
Adrenal hyperplasia 5
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
Medicamentos e terapias
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Corticotropin releasing factor receptor 1 antagonist
Mecanismo: Acyl coenzyme A:cholesterol acyltransferase 1 inhibitor
Mecanismo: Mineralocorticoid receptor agonist
Mecanismo: Cytochrome P450 17A1 inhibitor
Variantes genéticas (ClinVar)
686 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 926 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
Dado oficial do SIH/SUS · Volume por estado de residência do paciente.
🇧🇷 Atendimento SUS — Hiperplasia suprarrenal congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Hiperplasia suprarrenal congênita
Centros para Hiperplasia suprarrenal congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.483
Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia.
Pseudo hypoaldosteronism (PHA) and congenital adrenal hyperplasia (CAH) can present with similar biochemical abnormalities in neonates, making early diagnosis challenging. We report a neonate who presented with hyponatremia, hyperkalemia, and metabolic acidosis and was initially managed as CAH with steroid therapy. Despite treatment, the electrolyte abnormalities persisted, prompting further evaluation. Genetic testing revealed a homozygous pathogenic mutation in SCNN1B, confirming autosomal recessive PHA Type I-B. Persistent electrolyte derangements despite appropriate steroid therapy should raise suspicion for PHA. Early genetic testing is essential for accurate diagnosis and targeted management in neonates with overlapping presentations of CAH and PHA.
Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.
Neonatal screening has not been demanded by pediatricians nor parents in India because of limited resources, inadequate health information, early hospital discharges, a large rate of deliveries at home, and challenges with follow-up of results. This study was conducted based on the laboratory e-records from the Newborn Screening Unit, where Dried Blood Spot-based analysis was performed for G6PD deficiency, congenital adrenal hyperplasia, neonatal hypothyroidism, biotinidase deficiency, and galactosemia. The total study population comprised 3210 neonates. Overall, 329 children (10.2%) had some form of inherited disorder, and 12 (0.4%) suffered from two disorders concomitantly. The highest number of children were suffering from partial biotinidase deficiency (4.5%), followed by G6PD deficiency (2.7%). There was no significant difference in the levels of measured analytes in males and females, except for 17-OHP, which was significantly higher in males. Compared with females, males were more likely to have G6PD and biotinidase deficiency. Our study provides a snapshot of five inherited disorders previously unexamined by neonatal screening in Eastern India. We found a high prevalence of G6PD deficiency and other substantive neonatal conditions. Now that the significant prevalence of these disorders is known, stakeholders should work with policy-makers to institute national-level screening to determine their distribution in the broader population and address them in affected groups. Further studies are needed to identify effective implementation strategies, overcome financial and logistical barriers to an NBS program, and assess whether such a program can reach and benefit all communities, especially the most vulnerable.
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by variants in CYP21A2 (chr6p21.33), which encodes the 21-hydroxylase enzyme. Genetic diagnosis is challenging due to the high homology between CYP21A2 and its nearby pseudogene CYP21A1P. The current gold standard, PCR-based Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA), is labor-intensive, costly, and amenable to PCR bias. Furthermore, it is not reliable in detecting complex structural variants, and it provides no information on whether variants are located on the same allele or not. The purpose of this study was to develop a method based on long-read sequencing (LRS) for accurate diagnostics of CYP21A2 variants and their phasing. Adaptive sampling (AS-)-LRS with chromosome 6 as region-of-interest was applied to DNA from 34 patients clinically diagnosed with CAH. To overcome mapping challenges in the highly homologous regions, we developed NanoCAH, a custom bioinformatic tool that accurately distinguishes between CYP21A2 and CYP21A1P reads. Using AS-LRS and NanoCAH, we genetically confirmed CYP21A2-associated CAH in 32 (94%) of the patients, including reliable phasing of the variants without the need for parental testing. AS-LRS clarified previously ambiguous findings, including the detection of chimeric genes, deletions, and missed variants. Compared to current gold standard methods, AS-LRS proved to be faster and more scalable, while providing greater accuracy in detecting variants within the CYP21A2 region. This makes AS-LRS a promising tool not only for CAH diagnosis but also for genetic testing in other regions with complex genomic architecture.
Approach to Disorders of Sex Development in the Genomic Era.
Disorders of or differences in sex development (DSD) are congenital conditions characterized by a discrepancy between chromosomal, gonadal and/or anatomic sex. They are broadly classified on the basis of karyotype into 46,XX, 46,XY and sex chromosomal DSDs. While the most common cause of 46,XX DSD is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the genetics of 46,XY DSD is more complex with over 100 genes implicated. A precise genetic diagnosis of DSD ends the diagnostic odyssey and helps predict the future course with respect to gender development, puberty and extragenital features. With advancements in genetic testing including next-generation sequencing (NGS) and chromosomal microarray (CMA), it is possible to get a precise genetic diagnosis in up to 40-50% patients with 46,XY DSD. The choice of genetic tests depends on the expected pathophysiology inferred from the clinical phenotype, aiming to maximize diagnostic yields while minimizing costs. However, genetic investigations are not without their own shortcomings, some of which include high cost and complex data analysis, identification of 'variants of uncertain significance (VUS)', and negative results despite exhaustive testing. Therefore, genetic testing should always be undertaken following pre-test counseling, and in consultation with a pediatric endocrinologist and a geneticist. This article reviews the genetic mechanisms underlying DSD, the various genetic testing modalities along with their indications, prerequisites and pitfalls; and outlines a broad algorithmic approach to genetic diagnosis in DSD.
Targeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia.
Contemporary treatment for congenital adrenal hyperplasia is lifesaving; however, long-term deleterious effects from the disease and complications from the inadequacy of available treatment remain problematic. Locus-specific correction of the defective 21-hydroxylase gene through genomic editing has the potential to address this unmet need by simultaneously restoring gene function and physiological control. Editing is necessitated by the constant cellular turnover in the adrenal cortex which limits the durability of conventional gene addition strategies using recombinant adeno-associated virus. We have developed a homology-independent targeted integration genomic editing strategy that conferred phenotypic benefit in a mouse model using a dual recombinant adeno-associated virus approach. Reconstitution of 21-hydroxylase expression in the adrenal gland increased corticosteroid production, reduced adrenal gland hyperplasia, and reduced expression of renin and aldosterone synthase with these effects maintained to 15 weeks without diminution. This is beyond the adrenocortical cellular turnover time, providing initial evidence of adrenocortical progenitor cell targeting. Importantly, the editing strategy used is potentially applicable to the majority of causative mutations in classical congenital adrenal hyperplasia. Collectively these data provide strong impetus for addressing the challenges of clinical translation, with development and evaluation of strategies for efficient targeting of human adrenocortical progenitor cells being the most formidable.
Publicações recentes
Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.
Hair cortisol as a marker of glucocorticoid replacement adequacy in adrenal insufficiency.
Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl.
Exogenous glucocorticoid dose impacts circulating microRNA expression in patients with adrenal insufficiency due to 21-hydroxylase deficiency.
🥈 ObservacionalEarly Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype.
📚 EuropePMC3.911 artigos no totalmostrando 196
Reduced cortical thickness in individuals with congenital adrenal hyperplasia (CAH).
Scientific reportsTwelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.
Jornal de pediatriaAuthor Correction to: "Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia." [Turk J Pediatr 2025; 67: 692-699.].
The Turkish journal of pediatricsPerspectives on "Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia".
The Turkish journal of pediatricsHow has genetics changed the diagnosis and the management of differences of sex development?
Annales d'endocrinologieNovel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolismUncontrolled hypertension in siblings: an unsuspected diagnosis.
AJOG global reportsMale sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia.
Frontiers in endocrinologyBone age advancement in non-obese children with premature adrenarche: relationship to growth acceleration and predicted adult height outcomes.
Journal of pediatric endocrinology & metabolism : JPEMBilateral adrenal lesions as a manifestation of prolonged glucocorticoid withdrawal in classical adrenal hyperplasia.
Endokrynologia PolskaOptimization of Triptorelin Administration in Children With Central Precocious Puberty and Short Stature.
Clinical endocrinologyDiagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia.
Pakistan journal of medical sciencesBirth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population.
Indian journal of clinical biochemistry : IJCBAdiposity rebound and height velocity in patients with Congenital Adrenal Hyperplasia.
European journal of endocrinologyClinical Challenges in Transition to Adult Care for Young People With Endocrinopathies.
Clinical endocrinologyMuscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up.
Frontiers in endocrinologyEfficacy of liquid-chromatography and radioimmunoassay in false-positives' drop-off in CAH newborn screening.
The Journal of clinical endocrinology and metabolismLive Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.
International journal of women's healthUnveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge.
CureusAn isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of 17-hydroxyprogesterone in human serum and plasma.
Clinical chemistry and laboratory medicineCongenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies.
Journal of the National Medical AssociationDexamethasone therapy in adolescents with inadequately controlled congenital adrenal hyperplasia: effects on hormonal Suppression, Puberty, and gonadal outcomes.
EndocrineFour Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report.
Journal of clinical research in pediatric endocrinologySimple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
Frontiers in endocrinologyGlucocorticoid Prescribing Trends in Congenital Adrenal Hyperplasia, 2017 to 2023.
Endocrine connectionsCurrent insights into monitoring of congenital adrenal hyperplasia.
Frontiers in endocrinologyClitoroplasty with corporoplasty in feminizing genitoplasty: Multicenter evaluation of sensory and cosmetic outcomes.
Journal of pediatric urologyStudy on the reference intervals of six androgen "backdoor pathway" steroids in healthy Chinese adults.
Clinica chimica acta; international journal of clinical chemistryA Rare Cause of False-Positive 18 F FDG Uptake in Testicular Adrenal Rest Tumors Mimicking Malignancy in a Patient With Congenital Adrenal Hyperplasia : A Complete Metabolic Response on FDG PET/CT Following Treatment.
Clinical nuclear medicineClinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia.
Frontiers in endocrinologyAutomated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Frontiers in endocrinologyA Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary Syndrome.
The journal of obstetrics and gynaecology researchClinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Frontiers in geneticsQuality of Life in Children With Congenital Adrenal Hyperplasia: A Tertiary-Center Case-Control Study.
Clinical endocrinologyDecreased Gross Motor, Working Memory, and Adaptive Behavior in Children with Congenital Adrenal Hyperplasia.
Hormone research in paediatricsACTH and renin in 529 healthy youths: associations to sex, puberty and contraceptives.
Endocrine connectionsHemodynamic and microvascular abnormalities in P450 oxidoreductase deficiency: evidence for COX-dependent dysfunction.
European journal of endocrinologyClinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders.
Diagnostics (Basel, Switzerland)Congenital adrenal hyperplasia with bilateral testicular adrenal rest tumors: a case description emphasizing early ultrasound detection.
Quantitative imaging in medicine and surgeryClitoroplasty and urogenital sinus mobilization in females with congenital adrenal hyperplasia: A case report with focused literature discussion.
Journal of gynecology obstetrics and human reproductionTwo Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus.
Cureus[Non-classic lipoid adrenal hyperplasia: clinical cases report].
Problemy endokrinologii[Salivary steroid profile investigation by high performance liquid chromatography-tandem mass spectrometry in children with congenital adrenal hyperplasia].
Problemy endokrinologiiNewborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.
Journal of tropical pediatricsTesticular adrenal rest tumors and congenital adrenal hyperplasia.
Medicina clinicaAdrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency.
Diagnostics (Basel, Switzerland)Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.
Indian journal of pediatricsImproving diagnosis-specific knowledge of people with differences of sex development (DSD): Evaluation of the two-day Empower-DSD training course in Germany.
Patient education and counselingEarly androgens and development of social personality traits: Evidence from classical congenital adrenal hyperplasia.
Hormones and behaviorProstatic development and verumontanum in a 46,XX karyotype : An embryological paradox redefining diagnostic algorithm for testicular DSD.
Urology case reportsGenetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
European journal of human genetics : EJHGAn isotope dilution-liquid chromatography tandem mass spectrometry-based candidate reference measurement procedure for the quantification of dehydroepiandrosterone in human serum and plasma.
Clinical chemistry and laboratory medicineApproach to Disorders of Sex Development in the Genomic Era.
Indian journal of pediatricsAdrenocortical Carcinoma With Right Atrial Extension in a Three-Year-Old Child: A Case Report.
CureusAndrogen production in adrenocortical H295R cells is regulated by thyroid hormone T3 without reciprocal thyroid axis modulation in pediatric CAH.
The Journal of steroid biochemistry and molecular biologyContemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study.
European journal of endocrinologyA novel 2D and 3D model for primary adrenocortical carcinoma of advanced and metastasized stage co-secreting cortisol, aldosterone, testosterone, 18-oxocortisol and 18-hydroxycortisol.
Endocrine-related cancerFetal Ovarian Cyst Associated With Disorders of Sex Development: A Case Report.
CureusLate-Onset NR0B1-Related Adrenal Hypoplasia Congenita Presenting With Primary Adrenal Insufficiency and Pubertal Delay.
CureusStAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.
Case reports in endocrinologyContinuous subcutaneous hydrocortisone infusion in pediatric primary adrenal insufficiency: a cohort study.
Endocrine connectionsCase Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
Frontiers in endocrinologyRobinow Syndrome Mimicking Congenital Adrenal Hyperplasia.
JCEM case reportsPrevalence of Adrenal Pathology in Children Referred for Premature Pubarche: A 10-Year Retrospective Review in an Indiana Cohort.
Hormone research in paediatricsGenetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Genome medicineRare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Journal of endocrinological investigationCase Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.
Molecular genetics & genomic medicine[Prenatal genetic analysis of a fetus with 21-hydroxylase deficiency due to compound heterozygous variants of CYP21A2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Frontiers in endocrinologyNeonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
International journal of neonatal screeningSevere Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.
Case reports in endocrinologySignificance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report.
CureusCarrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Human genomicsMild Autonomous Cortisol Secretion in Congenital Adrenal Hyperplasia Managed With Mini Back Scope Adrenalectomy.
JCEM case reportsBilateral giant adrenal myelolipomas: a rare complication of classical congenital adrenal hyperplasia.
BMJ case reportsImproved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.
Journal of the Endocrine SocietyFertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review.
Frontiers in endocrinologyBeyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients.
European journal of pediatricsConcomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.
Molecular syndromologyHyperkalemia in the neonatal intensive care unit: actual or pseudohyperkalemia?
Postgraduate medicineImpact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency.
The Journal of clinical endocrinology and metabolismBone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition.
PloS oneAssessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia.
The Turkish journal of pediatricsCrinecerfont: CRF1R Antagonist Approved for Treatment of Congenital Adrenal Hyperplasia.
The Annals of pharmacotherapyRhabdomyolysis: Initial Presentation of Congenital Adrenal Hyperplasia.
Indian journal of pediatricsFinal Heights in Patients with Congenital Adrenal Hyperplasia: a Retrospective Cohort Study.
Journal of preventive medicine and hygieneHigh-Resolution Genetic Analysis in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
The Journal of clinical endocrinology and metabolismWhen Hormones Shape the Mind: Neuropsychiatric Manifestations in a Patient With Congenital Adrenal Hyperplasia and Genital Ambiguity.
CureusPartial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.
Reports (MDPI)Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Orphanet journal of rare diseasesWhat is the need for adrenalectomy in patients with congenital adrenal hyperplasia in the era of CRF1/ACTH inhibitors?
Frontiers in endocrinologyThe Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Clinical endocrinologySilent Threat: A Complex Presentation of Testicular Adrenal Rest Tumors in a Male With Congenital Adrenal Hyperplasia.
Clinical case reportsSingle-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency.
Journal of clinical research in pediatric endocrinologyA novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.
The Journal of clinical endocrinology and metabolism[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsSpontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review.
CureusDepressive and anxiety disorders in children and adolescents with selected endocrine diseases.
Pediatric endocrinology, diabetes, and metabolismTargeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia.
Molecular therapy : the journal of the American Society of Gene TherapyLong-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients.
Journal of ovarian researchA practical approach to diagnosis and treatment in children with primary adrenal insufficiency.
European journal of endocrinologyPubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience.
Journal of pediatric endocrinology & metabolism : JPEMMetabolic complications in a large cohort of Portuguese women with hirsutism-related disorders.
Journal of endocrinological investigationThe Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs).
CureusAn UPLC-MS/MS method for the simultaneous quantification of 6 steroids from the androgen "backdoor pathway" in human plasma.
Clinica chimica acta; international journal of clinical chemistryEnduring prenatal androgen effects on the female brain.
Brain communicationsCaring for Girls With Salt-Wasting Congenital Adrenal Hyperplasia: A Qualitative Study From Central Java, Indonesia.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersAssessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant.
Therapeutic advances in endocrinology and metabolismComprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.
Frontiers in endocrinologyNeonatal presentation of congenital adrenal hyperplasia accompanied by isolated cleft palate: case report.
Oxford medical case reportsCAH due to 11β-hydroxylase deficiency - same same but different!
The Journal of clinical endocrinology and metabolismPerception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey.
Journal of endocrinological investigationMeasurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.
Journal of mass spectrometry and advances in the clinical lab17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.
Translational pediatricsChallenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in Indonesia.
Journal of clinical research in pediatric endocrinologyNovel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.
Human mutationFeminizing genitoplasty-management strategy in a case of congenital adrenal hyperplasia with ambiguous genitalia.
Indian journal of urology : IJU : journal of the Urological Society of IndiaPositive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Journal of pediatric endocrinology & metabolism : JPEMAccurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
European journal of endocrinologyThe Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.
Development & reproductionDelayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
JCEM case reportsDiagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.
Frontiers in endocrinologyRare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.
Annales d'endocrinologieAdvances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers.
European journal of endocrinologyHuman Sexual Polymorphism and Predicted Ranges of Morphological Variation in Human Skeletal Sex Indicators.
American journal of biological anthropologyMale Pattern Androgenetic Alopecia Linked to an Adrenal Tumor: A Case Report.
Skin appendage disordersSTAR/STARD1: A mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Proceedings of the National Academy of Sciences of the United States of AmericaThe Importance of Disease-specific Growth Charts for Children with Congenital Adrenal Hyperplasia.
The Journal of clinical endocrinology and metabolismClinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.
The Journal of clinical endocrinology and metabolismThe Current Treatment Landscape for Congenital Adrenal Hyperplasia.
DrugsUnveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs.
Pediatric researchBone Health in Youth with Congenital Adrenal Hyperplasia: Abdominal and Total Adiposity Is Associated with Bone Mineral Density.
Hormone research in paediatricsPharmacological Characterization of the Novel CRF1 Receptor Antagonist, Thiazolo[4,5-d] Pyrimidine Analog, M43.
BiomoleculesSocial Cognition in Adolescents With Gender Dysphoria and Congenital Adrenal Hyperplasia: A Preliminary Investigation of Biological vs. Experiential Gender Effects.
Journal of clinical research in pediatric endocrinologyOptimizing glucocorticoid therapy in congenital adrenal hyperplasia and analog conditions: the intersection of dose reduction, patient care, and coverage in the US.
Frontiers in endocrinologyUrethral stricture in a 46,XX male with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: A literature review and case report.
Urology case reportsIncreased mortality in primary adrenal insufficiency: a systematic review and meta-analysis.
European journal of endocrinologyNewborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.
Journal of endocrinological investigationGender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.
Journal of Indian Association of Pediatric SurgeonsLabial Adhesions Secondary to Congenital Adrenal Hyperplasia.
UrologyAdolescent hyperandrogenism: diagnostic challenges and therapeutic approaches.
World journal of pediatrics : WJPUnder the hood: vulvar anatomy and pathology with a focus on MRI.
Abdominal radiology (New York)Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.
The Journal of clinical endocrinology and metabolismLongitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.
The Journal of clinical endocrinology and metabolismArterial stiffness and shortened QTc interval are associated with androgen and ACTH levels in classic congenital adrenal hyperplasia.
Frontiers in endocrinologyInherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
Indian journal of endocrinology and metabolismCombination of Si@UiO-66-NH2 paper-based thin film microextraction with direct solid-state spectrofluorimetry for extraction and determination of estradiol in urine.
Analytica chimica actaMineralocorticoid effects of fludrocortisone and hydrocortisone in primary adrenal insufficiency: EU-AIR patient data.
Journal of endocrinological investigationApparent Clitoromegaly in a Newborn: A Case of Congenital Adrenal Hyperplasia.
CureusNavigating Cervical Cancer Risk in a Patient With Classic Congenital Adrenal Hyperplasia (CAH): A Case Report.
CureusLife-Threatening Hyponatremia, Hyperkalemia, and Shock in Infancy: Not Always Congenital Adrenal Hyperplasia.
CureusClinical outcomes and treatment adequacy assessment in congenital adrenal hyperplasia: A Single-Center experience with Long-Term Follow-Up.
EndocrineOrthodontic Management of a Pediatric Patient Affected by Congenital Adrenal Hyperplasia: Case Report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryPhenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.
Endocrine regulationsNonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report.
CureusNewborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia.
Clinics in perinatologyEndocrine Disorders and COVID-19 Severity in Pediatric Populations: A Systematic Review.
CureusA Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
The Journal of clinical endocrinology and metabolismFirst intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked.
Journal of medical geneticsLeptin and adiponectin in children and young persons with congenital adrenal hyperplasia.
European journal of endocrinologyHepatic metabolism of 11-oxygenated androgens in humans: an integrated in vivo and ex vivo approach.
European journal of endocrinologySteroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision.
Biology open21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Archives of disease in childhoodElevation of corticosterone and 17OH progesterone in extremely preterm infants and clinical implications.
Pediatric researchA Scoping Review of Literature Exploring the Healthcare Transition of Individuals with Congenital Adrenal Hyperplasia.
Hormone research in paediatricsThe options for delayed surgery - Is there evidence available for delayed genitoplasty in differences/disorders of sex development?
Best practice & research. Clinical endocrinology & metabolismManagement of Giant Bilateral Adrenal Myelolipomas in Congenital Adrenal Hyperplasia.
JCEM case reportsMetabolic phenotype in non-aldosterone producing adrenal adenomas with co-existent polycystic ovary syndrome: a joint Ens@t project.
EndocrineHow should glucocorticoid and mineralocorticoid replacement be optimised in a young patient with classic 21-hydroxylase congenital adrenal hyperplasia?
Internal medicine journalThree misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report.
MedicineA Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the CYP21A2 Gene.
International journal of molecular sciencesIntegration of Adjunctive Therapy for Congenital Adrenal Hyperplasia.
Children (Basel, Switzerland)Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.
CPT: pharmacometrics & systems pharmacologyAlteration of Cytokine/Chemokine Transcript Levels in the Placenta of Humanized Mouse Models Treated Prenatally With Dexamethasone.
Birth defects researchNon-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.
EndocrineLongitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report.
AJP reportsElective Reconstruction for Children With Congenital Adrenal Hyperplasia: Evaluating Association of Familial Characteristics.
The Journal of surgical researchEnhancing primary newborn screening efficiency for congenital adrenal hyperplasia with LC-MS/MS/MS.
Clinica chimica acta; international journal of clinical chemistryExpanded Steroid Profiling Identifies Novel Newborn Screening Markers for Congenital Adrenal Hyperplasia.
The Journal of clinical endocrinology and metabolismLong-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.
Frontiers in pediatricsA Neonate Presenting with Severe Dehydration: A Rare Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.
JNMA; journal of the Nepal Medical AssociationAdrenocortical organoids: A promising tool for modelling human physiology and translational research.
Presse medicale (Paris, France : 1983)A Case of Secondary Pseudohypoaldosteronism in a Neonate not Due to Urinary Tract Issues.
Journal of clinical research in pediatric endocrinologyHigh precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Scientific reportsTesticular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia.
Journal of pediatric endocrinology & metabolism : JPEMCase Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.
Frontiers in pediatricsThe Role of MRI Findings in the Treatment of Testicular Adrenal Rest Tumors in a Child With Salt-Wasting Congenital Adrenal Hyperplasia: A Case Report.
CureusHistopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia.
IJU case reportsImpact of dual-release hydrocortisone on disease control and metabolism in congenital adrenal hyperplasia: a retrospective cohort study.
EndocrineApproach to the Patient With a Difference of Sexual Development.
The Journal of clinical endocrinology and metabolismPrevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.
Journal of the Endocrine SocietyPGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report.
International journal of fertility & sterilityLong-term outcomes in patients with congenital adrenal hyperplasia treated with hydrocortisone modified-release hard capsules.
European journal of endocrinologyExploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC-A Narrative Review.
International journal of molecular sciencesGrowth Assessment and Nutritional Status in Children with Congenital Adrenal Hyperplasia-A Cross-Sectional Study from a Vietnamese Tertiary Pediatric Center.
Diagnostics (Basel, Switzerland)Experience with pediatric and adult cases of ambiguous genitalia reconstructed with a single stage feminizing genitoplasty procedure.
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A doença é causada por alterações genéticas em enzimas essenciais para a síntese de hormônios nas glândulas suprarrenais. O quadro apresenta transmissão de herança autossômica recessiva e está ligado a genes como CYP21A2, CYP11B1 e STAR.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Hiperplasia suprarrenal congênita. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hiperplasia-suprarrenal-congenita
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hiperplasia suprarrenal congênita
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Alvos terapêuticos
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
