Raras
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Síndrome de condrodisplasia-desenvolvimento sexual diferente
ORPHA:1422CID-10 · Q87.1CID-11 · LD24.0YOMIM 600092DOENÇA RARA

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.

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Introdução

O que você precisa saber de cara

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
8 sintomas
🦴
Ossos e articulações
7 sintomas
👁️
Olhos
5 sintomas
📏
Crescimento
3 sintomas
😀
Face
1 sintomas
💪
Músculos
1 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

100%prev.
Baixa estatura grave
Muito frequente (99-80%)
100%prev.
Micromelia
Muito frequente (99-80%)
100%prev.
Hipoplasia da íris
Frequente (79-30%)
100%prev.
Tórax estreito
Muito frequente (99-80%)
100%prev.
Microcefalia
Muito frequente (99-80%)
100%prev.
Falange curta do dedo
Muito frequente (99-80%)
38sintomas
Muito frequente (21)
Frequente (16)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 características clínicas mais associadas, ordenadas por frequência.

Baixa estatura graveSevere short stature
Muito frequente (99-80%)100%
Micromelia
Muito frequente (99-80%)100%
Hipoplasia da írisHypoplasia of the iris
Frequente (79-30%)100%
Tórax estreitoNarrow chest
Muito frequente (99-80%)100%
MicrocefaliaMicrocephaly
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026189 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

HHATProtein-cysteine N-palmitoyltransferase HHATDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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:

LOCALIZAÇÃO

Endoplasmic reticulum membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (1)
Hedgehog ligand biogenesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Tireoide
4.9 TPM
Glândula adrenal
4.8 TPM
Cervix Endocervix
4.4 TPM
Próstata
3.9 TPM
Glândula salivar
3.8 TPM
OUTRAS DOENÇAS (1)
chondrodysplasia-pseudohermaphroditism syndrome
HGNC:18270UniProt:Q5VTY9

Variantes genéticas (ClinVar)

33 variantes patogênicas registradas no ClinVar.

🧬 HHAT: NM_018194.6(HHAT):c.567G>A (p.Trp189Ter) ()
🧬 HHAT: NM_018194.6(HHAT):c.727_728dup (p.Leu244fs) ()
🧬 HHAT: NM_018194.6(HHAT):c.112C>T (p.Gln38Ter) ()
🧬 HHAT: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 HHAT: NM_018194.6(HHAT):c.302G>T (p.Gly101Val) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience2026

Impulse control disorders (ICDs), such as excessive gambling, compulsive sexual behavior, binge eating, compulsive shopping as well as punding, and the dopamine dysregulation syndrome, may arise as a debilitating neuropsychiatric complication in Parkinson's disease (PD). Although the pathophysiology is not fully understood, it likely involves mesolimbic dopaminergic overstimulation combined with disease-related vulnerabilities in reward, motivation, and inhibitory control networks. This narrative review summarizes evidence on the neuropsychological, affective, and behavioral traits associated with ICDs in PD, with a particular focus on epidemiology/clinical manifestations, neurobiological and pharmacological mechanisms, as well as prevention and management strategies. ICDs can affect up to 40% of PD patients and are strongly associated with dopamine agonist exposure, younger age of onset, premorbid personality traits, and neuropsychiatric comorbidities. Neuropsychological findings reveal abnormalities in several domains, including reflection impulsivity, temporal discounting, novelty seeking, risk processing, and inhibitory control, while mood disorders, sleep dysfunction, apathy, and anxiety further influence vulnerability and worsen behavioral dysregulation. Although general awareness for development of ICDs has been raised, they still represent a significant burden for patients and their family members and are a predictor of functional decline and lower quality of life. Management includes dopamine agonist withdrawal whenever possible, the cessation of fast acting dopaminergic agents and treatment of neuropsychiatric comorbidities. In selected cases, deep brain stimulation or continuous dopaminergic delivery should be considered, particularly in those experiencing persistent worsening of motor symptoms despite appropriate adjustment of dopaminergic medication.

#2

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.

European heart journal2026 Mar 13

For individuals with suspected chronic coronary syndrome, the 2024 ESC guidelines recommend use of a structured estimate of the probability of obstructive coronary artery disease (CAD). This 'risk factor-weighted clinical likelihood' (RF-CL) model is recommended as the initial step after history taking and combines age, sex, symptom characteristics, and five clinical risk factors, with coronary calcification data, if available. The resulting numerical estimate indicates an initial 'pre-test probability' of obstructive CAD, that has been calibrated to provide improved accuracy compared with previous models. It can help triage patients for appropriate testing and identify individuals with a very low likelihood of obstructive CAD, for whom deferral of further diagnostic tests should be considered. Designed to assess the likelihood of obstructive CAD, the RF-CL model is not designed to predict ischaemia, which may occur in the absence of obstructive coronary disease and could account for patient symptoms. The score is easy and quick to use, with extensive external validation in contemporary populations including European, North American, and Asian cohorts. However, some have questioned the practical application of the RF-CL tool, citing challenges with the specificity and clarity of patient symptoms, definition and weighting of risk factors, as well as the other 'enrichment factors' that can enhance the likelihood. The RF-CL model is quantitative up to 45% and then becomes semi-quantitative/qualitative. For patients considered very high likelihood, with an estimated score > 85%, invasive coronary angiography is recommended, although how this score may be reached is not entirely clear. The RF-CL model undoubtedly improves the prediction of obstructive CAD and can 'de-risk' a significant number of symptomatic patients safely, reducing unnecessary testing. In the development and application of such a probability estimate, there is a need to strike a good balance between simplicity and usefulness, vs increased sensitivity at the expense of greater complexity. Here, the two sides of this Great Debate are presented, to help the reader better evaluate the practical usefulness of the new RF-CL assessment in predicting the probability of obstructive CAD.

#3

Gender, diversity, and inclusion in phenotypic and genetic characterization of acute coronary syndromes: rationale and design of the prospective multicentre GEDI-ACS registry.

European heart journal open2026 Mar

Despite an overall decline in cardiovascular mortality in recent years and advances in diagnosis and treatment, acute coronary syndromes (ACS) remain a leading cause of morbidity and mortality among women worldwide. Sex-specific risk factors and mechanisms remain under-recognized and complicate early diagnosis and management. The GEDI-ACS registry (PNRR-MCNT2-2023-12377431; NCT06441942) is a prospective, multicentre, non-randomized clinical study aiming to identify the phenotypic and genetic profiles of women with ACS. The study is enrolling 100 consecutive women presenting with ACS (ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction, or unstable angina) in Northern and Southern Italy. In these patients, comprehensive clinical, imaging, biochemical, and molecular phenotyping (including whole exome sequencing, transcriptomics, proteomics, and metabolomics) will be performed. Data on socioeconomic status, health literacy, and awareness of cardiovascular risk factors will be collected through standardized questionnaires. Follow-up, scheduled at 1 and 12 months, will assess clinical outcomes, quality of life, adherence to therapies, and lifestyle modifications. The GEDI-ACS registry will provide novel insights into the sex-specific profile of ACS by integrating clinical, genetic, molecular, and socioeconomic data from female patients. The results may support the development of personalized interventions that account for gender diversity.

#4

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

Neuroscience and biobehavioral reviews2026 Mar 09

Sex-chromosome dosage and pubertal hormone exposure exert powerful but temporally distinct influences on human brain development, yet their interaction has rarely been formalized within a unified mechanistic framework. Variation in X-chromosome dosage provides a unique opportunity to dissociate early organizational constraints from later modulatory processes shaping cognitive circuits. Here, we synthesize genetic, neuroimaging, neuroendocrine, and neuropsychological evidence to propose a hierarchical gene-hormone-circuit framework of cognitive development. Using Turner syndrome as a biologically constrained model system, we argue that haploinsufficiency of X-linked genes escaping inactivation imposes early, front-loaded constraints on cortical patterning and parietal-frontoparietal connectivity, establishing a neural scaffold that persists across development. Pubertal estrogen signaling subsequently acts as a modulatory influence, refining prefrontal and fronto-limbic circuits that retain plasticity into adolescence, but operating within the limits imposed by earlier gene-dosage-defined architecture. Importantly, this framework departs from prior models by explicitly distinguishing organizational constraints from modulatory influences across developmental timescales. The interaction of these processes yields a domain-specific neurobehavioral organization characterized by persistent visuospatial and executive vulnerabilities alongside variable socio-emotional outcomes. By explicitly integrating sex-chromosome dosage effects with hormone-dependent circuit tuning, this framework advances a generalizable model of hierarchical constraint and modulation in brain development, offering mechanistic insight into sex-linked variation in cognitive and affective circuit maturation and generating testable predictions for future longitudinal neurogenetic and neuroimaging studies.

#5

Epidemiologic transition of biliary tract cancers in an endemic region of Korea: insights from a regional cancer center cohort.

BMC gastroenterology2026 Mar 04

Biliary tract cancers (BTCs) in East Asia have traditionally been linked to inflammation-related etiologies. However, metabolic risk factors are increasingly contributing to BTC development. Temporal trends in BTC epidemiology remain underexplored in the Korean population. This study aimed to review 13-year trends in BTCs, focusing on metabolic and inflammatory comorbidities, in a southeastern Korean cancer center historically characterized by a high incidence of inflammation-related BTCs. This retrospective observational study analyzed 2,001 patients diagnosed with BTC at a southeastern Korean cancer center between 2009 and 2021. Data on general demographics (age, sex, smoking, alcohol), metabolic factors (hypertension, body mass index (BMI) ≥ 25 kg/m2, diabetes mellitus, hyperlipidemia), and inflammatory conditions (viral hepatitis, liver cirrhosis, bile duct stone, liver fluke infection) were collected from electronic medical records. Annual trends in clinical and demographic variables were evaluated using the Cochran-Armitage trend test. The cohort comprised 680 patients with gallbladder cancers and 586 patients with intrahepatic, 367 patients with perihilar, and 368 patients with distal cholangiocarcinomas. Gallbladder cancer was more common in females, whereas intrahepatic and distal cholangiocarcinomas were more prevalent in males. Over 13 years, the prevalence of hypertension and BMI ≥ 25 kg/m2 significantly increased (both p < 0.001). The prevalence of diabetes mellitus remained stable at approximately 26%. Although the proportion of patients with inflammatory factors increased from 38.9% to 49.7%, this trend was not statistically significant (p = 0.646). These findings indicate an ongoing epidemiological transition in BTC risk profiles in Korea, with metabolic factors, such as hypertension and obesity, playing an increasingly prominent role.

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Food &amp; function
2026

Measurement properties of the Inflammatory Rasch-built Overall Disability Scale (I-RODS) in patients with Guillain-Barré syndrome.

Journal of neurology
2026

Development and validation of a nomogram for early prediction of post-stroke shoulder-hand syndrome: a retrospective cohort study.

Frontiers in neuroscience
2026

Predicting neonatal respiratory distress syndrome in late preterm infants.

BMC pregnancy and childbirth
2026

Association Between Occupational Physical Work Exposure and Wild-Type Transthyretin Cardiomyopathy.

JACC. Advances
2026

Epidemiology of rehabilitation practices for inpatients with nephrotic syndrome: a retrospective cohort study using an administrative database.

Clinical and experimental nephrology
2026

Androgen insensitivity syndrome: Presentation, diagnosis, and management.

The Nurse practitioner
2026

Effect of Hormone Replacement Therapy on Liver and Cardiometabolic Outcomes in Peri-Menopausal MASLD.

Liver international : official journal of the International Association for the Study of the Liver
2026

Early detection and risk stratification of insulin resistance in children and adolescents with excess weight: a sdLDL/oxLDL-Based model.

Clinical and experimental medicine
2026

Neutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.

Frontiers in medicine
2026

Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.

bioRxiv : the preprint server for biology
2026

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.

Epilepsy currents
2026

Vitamin D deficiency in polycystic ovary syndrome: a retrospective study integrating Mendelian randomization.

Clinical and experimental reproductive medicine
2026

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

Cancer reports (Hoboken, N.J.)
2026

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Autism research : official journal of the International Society for Autism Research
2026

Yinhuo Decoction attenuates depression-like behaviors and promotes M2 microglia polarization by regulating PI3K/Akt/NF-κB signaling pathway in a murine model of menopausal depression.

Journal of ethnopharmacology
2026

Three-Dimensional Morphological Evaluation of the Maxillary Sinus in Individuals With Cleft Lip and Palate and Skeletal Malocclusion.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2026

Female Underweight/Undernutrition Syndrome (FUS): An Emerging Health Concept in Premenopausal Women - Secondary Publication (English Translation of the Japanese Statement).

The journal of obstetrics and gynaecology research
2026

The association between serum copper levels and hyperuricemia in adolescents: an observational study.

European journal of medical research
2026

Serum PCBs, OCPs, PBDEs and PCAs: Associations with metabolic syndrome risk factors in the Flemish Gut Flora Project cohort.

Environmental research
2026

Sexual Dimorphism in the Development of Cardiometabolic Syndrome.

Handbook of experimental pharmacology
2026

Incidence proportion of complex regional pain syndrome (CRPS) after distal radius fracture: a population-based register study.

Acta orthopaedica
2026

Association between reproductive span and postmenopausal metabolic syndrome: a cross-sectional study in China.

Menopause (New York, N.Y.)
2026

5α-Reductase Isoenzymes: From Neurosteroid Biosynthesis to Neuropsychiatric Outcomes.

NeuroSci
2026

[Menopausal hormone therapy in patients with cardiovascular and metabolic diseases: an interdisciplinary Delphi consensus among Russian gynecologists, cardiologists, endocrinologists, gerontologists and geriatricians, phlebologists, and clinical pharmacologists].

Terapevticheskii arkhiv
2026

Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.

European journal of obstetrics, gynecology, and reproductive biology
2026

AC Appropriateness Criteria® Female Infertility.

Journal of the American College of Radiology : JACR
2026

Long-Term Cardiovascular and Noncardiovascular Mortality After Acute Coronary Syndrome: A Nationwide Competing-Risks Analysis of 1.56 Million Patients.

Journal of the American College of Cardiology
2026

Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.

Clinical genetics
2026

Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.

JACC. CardioOncology
2026

Diet, nutrition, and hormone therapy for prostate cancer: a systematic review with implications for future interventions.

JNCI cancer spectrum
2026

Incidence of meningioma in women with a history of combined oral contraceptive pill use and polycystic ovary syndrome.

Women's health (London, England)
2026

Dysregulation of Endothelial cell markers in polycystic ovary syndrome.

Scientific reports
2026

Machine learning-predicted insulin resistance is a risk factor for 12 types of cancer.

Nature communications
2026

Genetic risk of chronic pain conditions associated with risk of suicide death through an integrative analysis of EHR and genomics data.

Translational psychiatry
2026

Evolution of Gonadal Management in Complete Androgen Insensitivity Syndrome: A 25-Year Retrospective Cohort Study from a Dedicated Differences of Sex Development Service.

Journal of pediatric and adolescent gynecology
2026

Moving geroscience forward in China: proceedings of the first international exchange forum of the Chinese Geriatrics Society.

The journals of gerontology. Series A, Biological sciences and medical sciences
2026

The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment.

Human reproduction (Oxford, England)
2026

Gender- and sex-dependent variations in heart failure and cardiomyopathies: a review of the literature.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Human Milk and Infant Gut Microbiome in Association With Infant Fecal Metabolome and Child Blood Pressure.

JAMA network open
2026

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

JCEM case reports
2026

Influence of Chronic Kidney Disease on Platelet Reactivity Response to Clopidogrel and Ticagrelor.

International journal of molecular sciences
2026

MTHFR and MTRR Polymorphisms Predict Sex-Dependent Psychotic Symptom Improvements, Not Metabolic Changes.

International journal of molecular sciences
2026

Placenta-mediated Pregnancy Complications and Their Association With Maternal Cardiovascular Disease Risk Factors Postpartum: A Systematic Review.

The Canadian journal of cardiology
2026

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.

Saudi journal of medicine &amp; medical sciences
2026

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Molecular syndromology
2026

Development and Validation of an Early Diagnostic Prediction Model for Acute Coronary Syndrome in Patients with Chest Pain.

Kardiologiia
2026

Metabolic dysfunction-associated steatotic liver disease linked to antiretroviral exposure in cohort of people with HIV.

AIDS (London, England)
2026

Latent transition analysis for longitudinal studies of post-acute infection syndromes.

Nature communications
2026

Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2026

Nocturnal emissions or wet dreams: modern evidence from a systematic scoping review.

Sexual medicine reviews
2026

Alpha oscillations are dysrhythmic in Fragile X syndrome.

bioRxiv : the preprint server for biology
2026

Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.

Cureus
2026

Immunogenic relationship mapping supports a minimal-set trivalent vaccine strategy for broad sarbecovirus protection.

Signal transduction and targeted therapy
2026

Reproductive 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 practice
2026

Sex and menopause-based differences in presentation of early Lyme disease: A prospective cohort study.

Clinical and experimental medicine
2026

Multivariate Trajectories of Eating Disorder Symptoms and Weight Status in 10- to 17-Year-Old Children and Adolescents.

The International journal of eating disorders
2026

Sex specific effects of a high fat diet on metabolism, cognition, and pathology in the Tg-SwDI mouse model of Alzheimer's disease.

Journal of neuroinflammation
2026

Identifying sex-specific predictors of frailty in Korean community-dwelling older adults using interpretable machine learning.

BMC geriatrics
2026

Clinical Presentation and Management of Swyer Syndrome: A Case Report.

Cureus
2026

Association of Physical Frailty With Serum Growth Differentiation Factor-15 and Cognitive Decline: A Cross-Sectional Study.

Geriatrics &amp; gerontology international
2026

Development of a non-genetic risk prediction model for allopurinol-induced severe cutaneous adverse drug reactions: a multicenter retrospective observational study.

Clinical rheumatology
2026

The new toolbox for reducing painful sex in menopause.

Current opinion in obstetrics &amp; gynecology
2026

Analysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.

BMC pediatrics
2026

Effect of Bioptron light therapy on dryness of eyes in postmenopausal women: a randomized controlled trial.

Lasers in medical science
2026

Self-efficacy and quality of life mediate self-reported mental health outcomes in visual snow syndrome.

Scientific reports
2026

Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.

Biological psychiatry
2026

Ovarian-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 differentiation
2026

Neurologic Complications of Pregnancy and Menopause.

Continuum (Minneapolis, Minn.)
2026

Acute Coronary Syndromes in Premenopausal Women: A Scientific Statement From the American Heart Association.

Circulation
2026

The role of metabolic syndrome in osteoarthritis development: Is obesity the key driver?

Osteoarthritis and cartilage open
2026

Analysis of risk factors for hypoproteinemia after total hip arthroplasty and construction of a nomogram: A retrospective study.

Medicine
2026

A review of estrogens used in menopausal hormone therapy.

Current opinion in obstetrics &amp; gynecology
2026

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Pediatric neurology
2026

The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2025

Impact of Contrast Volume Used After Percutaneous Coronary Procedures in Patients at Risk for Contrast-Induced Nephropathy.

Arquivos brasileiros de cardiologia
2026

Myocardial injury in patients with acute ischemic stroke: Prevalence and types of triggers of myocardial demand ischemia.

European stroke journal
2025

Association Between Sleep Duration and Related Risk Factors with Metabolic Syndrome: A Systematic Review and Meta-analysis.

International journal of preventive medicine
2026

Effects of 12-week aquatic HIIT on blood pressure lipid profile and BaPWV in postmenopausal women with different ACE genotypes.

Scientific reports
2026

Disrupted brain angiogenesis and blood-brain barrier function underlie cognitive deficits in offspring of preeclampsia-like pregnancies.

The Journal of physiology
2026

Geometric Microstructural Characteristics of White Matter Differentiate Patients With Facial Dyskinesias and Palsy.

CNS neuroscience &amp; therapeutics
2026

Serum Concentrations of Cytokines in Patients With Restless Legs Syndrome.

Journal of sleep research
2026

Gastrointestinal Diagnostic Coding After Spinal Cord Injury: Health Behavior Correlates and Implications for Neurogenic Bowel Management in a Nationwide Claim-Based Cohort.

Journal of clinical medicine
2026

Targeting CRHR1 Signaling in Experimental Infantile Epileptic Spasms Syndrome: Evidence for Route-Dependent Efficacy.

Children (Basel, Switzerland)
2026

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 sciences
2025

Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.

Genes
2026

Sex-Based Differences in Intraocular Pressure During Head-Down Tilt in a Spaceflight Analog Model.

Aerospace medicine and human performance
2026

Paramagnetic Rim Lesions and Development of Clinical MS in Radiologically Isolated Syndrome.

JAMA neurology
2025

Amelioration of polycystic ovarian morphology by Tokishakuyakusan in a PCOS rat model: association with bone morphogenetic protein 4.

Frontiers in endocrinology
2026

Pancreatic cancer risk and survival in patients with Lynch syndrome: a nationwide Dutch cohort study.

EClinicalMedicine
2025

Coexistence of Adult-Onset Still's Disease and Graves' Disease: Coincidence or Continuum?

Cureus
2026

[Optical Coherent Tomography: A Tool for Non-Invasive Biopsy in Women's Health].

Harefuah
2026

Altered auditory seed-based functional connectivity in other specified schizophrenia spectrum and other psychotic disorder compared to schizophrenia spectrum disorders.

Schizophrenia (Heidelberg, Germany)
2026

Triglyceride-glucose index and cardiovascular disease by cardiovascular-kidney-metabolic syndrome and socioeconomic status among postmenopausal women.

Atherosclerosis
2026

Improving 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 counseling
2026

Systemic inflammation response index and Parkinson's disease risk: A cross-sectional study.

Medicine
2026

Association 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 Surgery
2026

A Hemizygous <italic>MED12</italic> Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.

Hormone research in paediatrics
2026

[Consensus document on healthy lifestyles].

Nutricion hospitalaria
2026

Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing.

Journal of community genetics
2025

Adherence to antiretroviral therapy among female sex workers in Kampala, Uganda.

Journal of public health in Africa
2026

Validation of a new Japanese classification for predicting severe bronchopulmonary dysplasia in preterm infants.

Clinical and experimental pediatrics
2026

[Progress in research of prevalence of HIV/AIDS and influencing factors in transgender women].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
2026

An 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 medicine
2026

From menarche to menopause: estrogenic influences on stroke-related depression in women.

Frontiers in neuroendocrinology
2026

The impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2025

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 sciences
2026

Sex- and brain region-specific gene expression in Alzheimer's disease.

Journal of Alzheimer's disease : JAD
2026

Overexpression 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 communications
2026

Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.

Asian journal of andrology
2026

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.

Clinical genetics
2026

Prediction of exposure to pollutants and hormones on the risk of polycystic ovarian syndrome.

Journal of ovarian research
2026

Non-Invasive Break-Up Time in the Beijing Adult Dry Eye Cohort Study (ADEC): A Cross-Sectional Baseline Analysis.

Journal of epidemiology and global health
2026

Neurogenic priapism in spinal cord injury and degenerative spinal pathology: a narrative review.

Sexual medicine reviews
2026

Development of Cardiovascular Risk Equations in People with Overweight or Obesity and Established Cardiovascular Disease Without Diabetes Based on the SELECT Trial.

PharmacoEconomics
2026

Assessment 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.

Cureus
2026

Association Between Abnormal DNA Methylation and Altered Transcriptome in Muscle Five Years After Critical Illness.

Journal of cachexia, sarcopenia and muscle
2026

[Association between employment type and employee lifestyle among individuals under the same health insurance society].

[Nihon koshu eisei zasshi] Japanese journal of public health
2026

Age- and BMI-stratified assessment of serum anti-Müllerian hormone as a biomarker for polycystic ovary syndrome diagnosis in Chinese women.

BMC endocrine disorders
2026

Exploring the mechanism link between endocrine disrupting chemicals and metabolic diseases: Observational and GWAS evidence.

Ecotoxicology and environmental safety
2026

Indirect 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 health
2026

ENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe.

European journal of endocrinology
2026

Sexual 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 : JANAC
2026

A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot.

Clinical case reports
2026

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

Human reproduction (Oxford, England)
2026

Beyond malignancy: Unravelling the Enigma of Meigs syndrome in ovarian fibroma.

Tropical doctor
2026

Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome.

Molecular genetics &amp; genomic medicine
2026

Gut 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 medicine
2026

Ingenol-Mediated SIRT1-LXRα Signaling Reduces Lipid Accumulation and Alleviates Postmenopausal Liver Damage.

Phytotherapy research : PTR
2026

Investigating epigenetic biomarkers of age, sex, and disease in captive South African cheetahs (Acinonyx jubatus jubatus).

PloS one
2026

A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome.

Orphanet journal of rare diseases
2026

Inapparent maternal ZIKV infection impacts fetal brain development and postnatal behavior.

PLoS pathogens
2026

Fetal Ovarian Cyst Associated With Disorders of Sex Development: A Case Report.

Cureus
2026

Standardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.

The journal of sexual medicine
2026

Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.

Diagnostics (Basel, Switzerland)

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Neuropsychological aspects of impulse control disorders in Parkinson's disease.
    Frontiers in aging neuroscience· 2026· PMID 41878312mais citado
  2. 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.
    European heart journal· 2026· PMID 41823519mais citado
  3. Gender, diversity, and inclusion in phenotypic and genetic characterization of acute coronary syndromes: rationale and design of the prospective multicentre GEDI-ACS registry.
    European heart journal open· 2026· PMID 41822004mais citado
  4. A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
    Neuroscience and biobehavioral reviews· 2026· PMID 41812715mais citado
  5. Epidemiologic transition of biliary tract cancers in an endemic region of Korea: insights from a regional cancer center cohort.
    BMC gastroenterology· 2026· PMID 41781899mais citado
  6. Genetic diagnosis of Jordanian patients with glycogen storage diseases.
    Orphanet J Rare Dis· 2025· PMID 41044641recente
  7. Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
    Orphanet J Rare Dis· 2025· PMID 40200352recente
  8. An interconnected data infrastructure to support large-scale rare disease research.
    Gigascience· 2024· PMID 39302238recente
  9. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
    Orphanet J Rare Dis· 2024· PMID 39135054recente
  10. Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
    Orphanet J Rare Dis· 2019· PMID 31747956recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1422(Orphanet)
  2. OMIM OMIM:600092(OMIM)
  3. MONDO:0010814(MONDO)
  4. GARD:16565(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Síndrome de condrodisplasia-desenvolvimento sexual diferente
Compêndio · Raras BR

Síndrome de condrodisplasia-desenvolvimento sexual diferente

ORPHA:1422 · MONDO:0010814
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.1 · Síndromes com malformações congênitas associadas predominantemente com nanismo
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1838654
Wikidata
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