Condrodisplasia - transtorno do desenvolvimento sexual é uma condição extremamente rara, relatada em apenas dois irmãos até hoje (uma das gestações foi interrompida). Ela é caracterizada por: 1. **Disgenesia gonadal completa 46,XY**: A pessoa possui os cromossomos XY (geralmente masculinos), mas os órgãos sexuais (gônadas) não se desenvolvem por completo. Isso se manifesta como: * Genitais externos femininos normais. * Ausência de desenvolvimento na puberdade. * Ausência da primeira menstruação (amenorreia primária). * Um desequilíbrio hormonal (hipogonadismo hipergonadotrófico), onde o corpo tenta estimular as gônadas sem sucesso. 2. **Nanismo grave com condrodisplasia generalizada**: Um crescimento muito abaixo do normal, com problemas generalizados na formação dos ossos e cartilagens. Isso inclui: * Tórax em forma de sino. * Membros (braços e pernas) anormalmente curtos (micromelia). * Dedos curtos (braquidactilia). No irmão que sobreviveu, outras características relatadas foram: problemas nos olhos, como íris (a parte colorida do olho) subdesenvolvidas, miopia (dificuldade para enxergar de longe) e coloboma dos discos ópticos (um defeito na formação do nervo que liga o olho ao cérebro); traços faciais incomuns, como olhos fundos, cantos dos olhos inclinados para cima, pálpebras inchadas, orelhas e boca grandes, e mandíbula ligeiramente projetada para frente (prognatismo leve); músculos subdesenvolvidos (hipoplasia muscular); deficiência intelectual leve; e microcefalia grave (cabeça muito pequena) com hipoplasia do verme cerebelar (subdesenvolvimento de uma parte do cerebelo, área do cérebro responsável pela coordenação). Sugere-se que a condição seja herdada geneticamente de forma autossômica recessiva.
Introdução
O que você precisa saber de cara
Condrodisplasia - transtorno do desenvolvimento sexual é uma condição extremamente rara, relatada em apenas dois irmãos até hoje (uma das gestações foi interrompida). Ela é caracterizada por: 1. **Disgenesia gonadal completa 46,XY**: A pessoa possui os cromossomos XY (geralmente masculinos), mas os órgãos sexuais (gônadas) não se desenvolvem por completo. Isso se manifesta como: * Genitais externos femininos normais. * Ausência de desenvolvimento na puberdade. * Ausência da primeira menstruação (amenorreia primária). * Um desequilíbrio hormonal (hipogonadismo hipergonadotrófico), onde o corpo tenta estimular as gônadas sem sucesso. 2. **Nanismo grave com condrodisplasia generalizada**: Um crescimento muito abaixo do normal, com problemas generalizados na formação dos ossos e cartilagens. Isso inclui: * Tórax em forma de sino. * Membros (braços e pernas) anormalmente curtos (micromelia). * Dedos curtos (braquidactilia). No irmão que sobreviveu, outras características relatadas foram: problemas nos olhos, como íris (a parte colorida do olho) subdesenvolvidas, miopia (dificuldade para enxergar de longe) e coloboma dos discos ópticos (um defeito na formação do nervo que liga o olho ao cérebro); traços faciais incomuns, como olhos fundos, cantos dos olhos inclinados para cima, pálpebras inchadas, orelhas e boca grandes, e mandíbula ligeiramente projetada para frente (prognatismo leve); músculos subdesenvolvidos (hipoplasia muscular); deficiência intelectual leve; e microcefalia grave (cabeça muito pequena) com hipoplasia do verme cerebelar (subdesenvolvimento de uma parte do cerebelo, área do cérebro responsável pela coordenação). Sugere-se que a condição seja herdada geneticamente de forma autossômica recessiva.
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
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (PubMed:18534984, PubMed:24784881, PubMed:31875564). It also catalyzes N-terminal palmitoylation of DHH (PubMed:24784881). Promotes the transfer of palmitoyl-CoA from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane, where SHH palmitoylation occurs (PubMed:31875564). It is an essential factor for proper embryonic development and testicular organogenesis (PubMed:
Endoplasmic reticulum membraneGolgi apparatus membrane
Nivelon-Nivelon-Mabille syndrome
An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present.
Variantes genéticas (ClinVar)
33 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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)
🇧🇷 Atendimento SUS — Síndrome de condrodisplasia-desenvolvimento sexual diferente
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Signal transduction and targeted therapyReproductive factors, insulin resistance surrogate indices, and circadian syndrome among middle-aged and elderly women a mediation analysis using two-national cohorts.
Diabetes research and clinical practiceSex and menopause-based differences in presentation of early Lyme disease: A prospective cohort study.
Clinical and experimental medicineMultivariate Trajectories of Eating Disorder Symptoms and Weight Status in 10- to 17-Year-Old Children and Adolescents.
The International journal of eating disordersSex specific effects of a high fat diet on metabolism, cognition, and pathology in the Tg-SwDI mouse model of Alzheimer's disease.
Journal of neuroinflammationIdentifying sex-specific predictors of frailty in Korean community-dwelling older adults using interpretable machine learning.
BMC geriatricsClinical Presentation and Management of Swyer Syndrome: A Case Report.
CureusAssociation of Physical Frailty With Serum Growth Differentiation Factor-15 and Cognitive Decline: A Cross-Sectional Study.
Geriatrics & gerontology internationalDevelopment of a non-genetic risk prediction model for allopurinol-induced severe cutaneous adverse drug reactions: a multicenter retrospective observational study.
Clinical rheumatologyThe new toolbox for reducing painful sex in menopause.
Current opinion in obstetrics & gynecologyAnalysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.
BMC pediatricsEffect of Bioptron light therapy on dryness of eyes in postmenopausal women: a randomized controlled trial.
Lasers in medical scienceSelf-efficacy and quality of life mediate self-reported mental health outcomes in visual snow syndrome.
Scientific reportsLoss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.
Biological psychiatryOvarian-Specific FOXL2 Protein Expression in Testes from Patients with Complete Androgen Insensitivity Syndrome and Undescended Testes.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationNeurologic Complications of Pregnancy and Menopause.
Continuum (Minneapolis, Minn.)Acute Coronary Syndromes in Premenopausal Women: A Scientific Statement From the American Heart Association.
CirculationThe role of metabolic syndrome in osteoarthritis development: Is obesity the key driver?
Osteoarthritis and cartilage openAnalysis of risk factors for hypoproteinemia after total hip arthroplasty and construction of a nomogram: A retrospective study.
MedicineA review of estrogens used in menopausal hormone therapy.
Current opinion in obstetrics & gynecologyDevelopmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.
Pediatric neurologyThe genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
Best practice & research. Clinical obstetrics & gynaecologyImpact of Contrast Volume Used After Percutaneous Coronary Procedures in Patients at Risk for Contrast-Induced Nephropathy.
Arquivos brasileiros de cardiologiaMyocardial injury in patients with acute ischemic stroke: Prevalence and types of triggers of myocardial demand ischemia.
European stroke journalAssociation Between Sleep Duration and Related Risk Factors with Metabolic Syndrome: A Systematic Review and Meta-analysis.
International journal of preventive medicineEffects of 12-week aquatic HIIT on blood pressure lipid profile and BaPWV in postmenopausal women with different ACE genotypes.
Scientific reportsDisrupted brain angiogenesis and blood-brain barrier function underlie cognitive deficits in offspring of preeclampsia-like pregnancies.
The Journal of physiologyGeometric Microstructural Characteristics of White Matter Differentiate Patients With Facial Dyskinesias and Palsy.
CNS neuroscience & therapeuticsSerum Concentrations of Cytokines in Patients With Restless Legs Syndrome.
Journal of sleep researchGastrointestinal Diagnostic Coding After Spinal Cord Injury: Health Behavior Correlates and Implications for Neurogenic Bowel Management in a Nationwide Claim-Based Cohort.
Journal of clinical medicineTargeting CRHR1 Signaling in Experimental Infantile Epileptic Spasms Syndrome: Evidence for Route-Dependent Efficacy.
Children (Basel, Switzerland)46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.
International journal of molecular sciencesGenetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.
GenesSex-Based Differences in Intraocular Pressure During Head-Down Tilt in a Spaceflight Analog Model.
Aerospace medicine and human performanceParamagnetic Rim Lesions and Development of Clinical MS in Radiologically Isolated Syndrome.
JAMA neurologyAmelioration of polycystic ovarian morphology by Tokishakuyakusan in a PCOS rat model: association with bone morphogenetic protein 4.
Frontiers in endocrinologyPancreatic cancer risk and survival in patients with Lynch syndrome: a nationwide Dutch cohort study.
EClinicalMedicineCoexistence of Adult-Onset Still's Disease and Graves' Disease: Coincidence or Continuum?
Cureus[Optical Coherent Tomography: A Tool for Non-Invasive Biopsy in Women's Health].
HarefuahAltered auditory seed-based functional connectivity in other specified schizophrenia spectrum and other psychotic disorder compared to schizophrenia spectrum disorders.
Schizophrenia (Heidelberg, Germany)Triglyceride-glucose index and cardiovascular disease by cardiovascular-kidney-metabolic syndrome and socioeconomic status among postmenopausal women.
AtherosclerosisImproving 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 counselingSystemic inflammation response index and Parkinson's disease risk: A cross-sectional study.
MedicineAssociation between cranial morphology and dysgnathias in adolescents and adults: A prospective case-control study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryA Hemizygous <italic>MED12</italic> Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.
Hormone research in paediatrics[Consensus document on healthy lifestyles].
Nutricion hospitalariaGenetic counselors' perspectives on the expanded use of non-invasive prenatal testing.
Journal of community geneticsAdherence to antiretroviral therapy among female sex workers in Kampala, Uganda.
Journal of public health in AfricaValidation of a new Japanese classification for predicting severe bronchopulmonary dysplasia in preterm infants.
Clinical and experimental pediatrics[Progress in research of prevalence of HIV/AIDS and influencing factors in transgender women].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhiAn 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 medicineFrom menarche to menopause: estrogenic influences on stroke-related depression in women.
Frontiers in neuroendocrinologyThe impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.
Alzheimer's & dementia (Amsterdam, Netherlands)Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.
Journal of human reproductive sciencesSex- and brain region-specific gene expression in Alzheimer's disease.
Journal of Alzheimer's disease : JADOverexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Acta neuropathologica communicationsClinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.
Asian journal of andrologyUnraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.
Clinical geneticsPrediction of exposure to pollutants and hormones on the risk of polycystic ovarian syndrome.
Journal of ovarian researchNon-Invasive Break-Up Time in the Beijing Adult Dry Eye Cohort Study (ADEC): A Cross-Sectional Baseline Analysis.
Journal of epidemiology and global healthNeurogenic priapism in spinal cord injury and degenerative spinal pathology: a narrative review.
Sexual medicine reviewsDevelopment of Cardiovascular Risk Equations in People with Overweight or Obesity and Established Cardiovascular Disease Without Diabetes Based on the SELECT Trial.
PharmacoEconomicsAssessment of Electrolyte Imbalances as an Early Manifestation of Refeeding Syndrome in Critically Ill Patients Receiving Total Parenteral Nutrition at a Tertiary Hospital in Mexico City.
CureusAssociation Between Abnormal DNA Methylation and Altered Transcriptome in Muscle Five Years After Critical Illness.
Journal of cachexia, sarcopenia and muscle[Association between employment type and employee lifestyle among individuals under the same health insurance society].
[Nihon koshu eisei zasshi] Japanese journal of public healthAge- and BMI-stratified assessment of serum anti-Müllerian hormone as a biomarker for polycystic ovary syndrome diagnosis in Chinese women.
BMC endocrine disordersExploring the mechanism link between endocrine disrupting chemicals and metabolic diseases: Observational and GWAS evidence.
Ecotoxicology and environmental safetyIndirect Associations of Perceived Stress and Sleep Quality in the Relationship Between Andropause Symptoms and Quality of Life Among Middle-Aged Men: A Cross-Sectional Study.
American journal of men's healthENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe.
European journal of endocrinologySexual Dysfunction and Hypoactive Sexual Desire in Women Living With HIV in Ceará, Brazil: A Cross-Sectional Study.
The Journal of the Association of Nurses in AIDS Care : JANACA Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot.
Clinical case reportsFertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.
Human reproduction (Oxford, England)Beyond malignancy: Unravelling the Enigma of Meigs syndrome in ovarian fibroma.
Tropical doctorIdentification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome.
Molecular genetics & genomic medicineGut Microbiome Dysbiosis is Associated With Human T-Lymphotropic Virus Type 1 (HTLV-1) Infection and Disease Progression to HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis: A Cross-Sectional Study.
Smart medicineIngenol-Mediated SIRT1-LXRα Signaling Reduces Lipid Accumulation and Alleviates Postmenopausal Liver Damage.
Phytotherapy research : PTRInvestigating epigenetic biomarkers of age, sex, and disease in captive South African cheetahs (Acinonyx jubatus jubatus).
PloS oneA study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome.
Orphanet journal of rare diseasesInapparent maternal ZIKV infection impacts fetal brain development and postnatal behavior.
PLoS pathogensFetal Ovarian Cyst Associated With Disorders of Sex Development: A Case Report.
CureusStandardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.
The journal of sexual medicineMayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Neuropsychological aspects of impulse control disorders in Parkinson's disease.
- Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.
- Gender, diversity, and inclusion in phenotypic and genetic characterization of acute coronary syndromes: rationale and design of the prospective multicentre GEDI-ACS registry.
- A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
- Epidemiologic transition of biliary tract cancers in an endemic region of Korea: insights from a regional cancer center cohort.
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.
- Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
- An interconnected data infrastructure to support large-scale rare disease research.
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
- Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1422(Orphanet)
- OMIM OMIM:600092(OMIM)
- MONDO:0010814(MONDO)
- GARD:16565(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q27674741(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
