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Síndrome de insensibilidade aos androgênios
ORPHA:754CID-10 · E34.5CID-11 · LD2A.4OMIM 300068DOENÇA RARA

A Síndrome de Insensibilidade aos Andrógenos (SIA) é uma condição do desenvolvimento sexual (DDS) que afeta pessoas com cromossomos 46,XY (geneticamente homens). Ela se manifesta com genitália externa feminina, genitália ambígua (não claramente masculina nem feminina) ou falhas variadas no desenvolvimento de características masculinas, devido à ausência ou resposta parcial do corpo aos hormônios masculinos (andrógenos) em níveis adequados para a idade. Ela se divide em duas formas clínicas principais: a SIA completa (SIAC) e a SIA parcial (SIAP).

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Insensibilidade aos Andrógenos (SIA) é uma condição do desenvolvimento sexual (DDS) que afeta pessoas com cromossomos 46,XY (geneticamente homens). Ela se manifesta com genitália externa feminina, genitália ambígua (não claramente masculina nem feminina) ou falhas variadas no desenvolvimento de características masculinas, devido à ausência ou resposta parcial do corpo aos hormônios masculinos (andrógenos) em níveis adequados para a idade. Ela se divide em duas formas clínicas principais: a SIA completa (SIAC) e a SIA parcial (SIAP).

Pesquisas ativas
2 ensaios
3 total registrados no ClinicalTrials.gov
Publicações científicas
1.305 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E34.5
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

📏
Crescimento
7 sintomas
🧬
Pele e cabelo
6 sintomas
🦴
Ossos e articulações
2 sintomas
🧠
Neurológico
2 sintomas
🫘
Rins
1 sintomas
🫃
Digestivo
1 sintomas

+ 35 sintomas em outras categorias

Características mais comuns

Nível anormal de hormônio folículo-estimulante circulante
HP:0001419
Anormalidade do colo do útero
Alta estatura
Anormalidade de crescimento
Pelos pubianos esparsos
54sintomas
Sem dados (54)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.

Nível anormal de hormônio folículo-estimulante circulanteAbnormal circulating follicle-stimulating hormone level
HP:0001419
Anormalidade do colo do úteroAbnormality of the uterine cervix
Alta estaturaTall stature
Anormalidade de crescimentoGrowth abnormality

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.305PubMed
Últimos 10 anos200publicações
Pico202346 papers
Linha do tempo
2026Hoje · 2026🧪 2021Primeiro ensaio clínico📈 2023Ano de pico
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: X-linked recessive.

ARAndrogen receptorDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Tran

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (6)
RUNX2 regulates osteoblast differentiationActivated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligandNuclear Receptor transcription pathwaySUMOylation of intracellular receptors
MECANISMO DE DOENÇA

Androgen insensitivity syndrome

An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.

OUTRAS DOENÇAS (7)
Kennedy diseasehypospadias 1, X-linkedandrogen insensitivity syndromepartial androgen insensitivity syndrome
HGNC:644UniProt:P10275

Variantes genéticas (ClinVar)

569 variantes patogênicas registradas no ClinVar.

🧬 AR: NM_000044.6(AR):c.2591T>G (p.Leu864Arg) ()
🧬 AR: NM_000044.6(AR):c.2168T>C (p.Leu723Ser) ()
🧬 AR: NM_000044.6(AR):c.2073C>A (p.Asp691Glu) ()
🧬 AR: NM_000044.6(AR):c.2329_2333dup (p.Lys778fs) ()
🧬 AR: NM_000044.6(AR):c.1487del (p.Asp496fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 52 variantes classificadas pelo ClinVar.

26
18
8
Patogênica (50.0%)
VUS (34.6%)
Benigna (15.4%)
VARIANTES MAIS SIGNIFICATIVAS
AR: NM_000044.6(AR):c.610G>T (p.Glu204Ter) [Pathogenic]
AR: NM_000044.6(AR):c.154_220del (p.Ala52fs) [Pathogenic]
AR: NM_000044.6(AR):c.2612C>G (p.Ala871Gly) [Likely pathogenic]
AR: NM_000044.6(AR):c.1095C>A (p.Tyr365Ter) [Pathogenic]
AR: NM_000044.6(AR):c.2270A>G (p.Asn757Ser) [Pathogenic/Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de insensibilidade aos androgênios

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

3 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
527 papers (10 anos)
#1

Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.

Journal of minimal access surgery2026 Mar 19

Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disorder in which individuals with a 46,XY karyotype exhibit a phenotypically female appearance due to end-organ resistance to androgens. We present a 21-year-old phenotypic female with left groin pain and a palpable right labial mass. Clinical findings included normal breast development, scant pubic and axillary hair, primary amenorrhea, clitoromegaly resembling a microphallus and bifid scrotum-like labia. Imaging revealed a left inguinal undescended testis with hernia and a right testis in the right labia majora, with absent uterus and ovaries. Karyotyping confirmed a 46,XY genotype. After multidisciplinary counselling, the patient chose to retain female gender identity and initiate lifelong oestrogen therapy. Laparoscopic transabdominal pre-peritoneal (TAPP) hernia repair with synchronous bilateral orchidectomy was performed. Recovery was uneventful with excellent cosmesis. This is the first reported case of PAIS managed with combined laparoscopic TAPP hernia repair and bilateral orchidectomy, underscoring the importance of individualised gender-affirming management and the versatility of minimally invasive surgery.

#2

Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.

Clinical endocrinology2026 Mar 08

46,XY differences in sex development (DSD) comprise a heterogeneous group of conditions. Molecular diagnosis guides management by giving insights into the pathophysiology of sex development, reproduction, tumour formation and extragenital issues. Children with 46,XY DSD from a tertiary hospital in India underwent comprehensive assessment and stepwise genetic testing. Targeted testing for SRD5A2 and AR was performed in cases with suspected 5α-reductase type 2 (5αR2) deficiency/androgen insensitivity syndrome (AIS). For all other patients, and those without variants in SRD5A2 or AR on Sanger sequencing, NGS using a targeted 155-gene panel was performed. Longitudinal clinical data was also collated. One hundred and forty-seven children with 46,XY DSD with a median (interquartile range) age of 3.8 (1.4, 10.6) years were enrolled. Provisional clinical diagnoses were 5αR2 deficiency/AIS (n = 83, 56.5%), gonadal dysgenesis (n = 31, 21%), testosterone biosynthetic defect (n = 11, 7.5%) and others (n = 22, 15%) based on clinical, biochemical and radiological assessment. Sequential single gene testing for SRD5A2 and AR performed in 75 patients with a clinical diagnosis of 5αR2 deficiency/AIS identified pathogenic/likely pathogenic variants in 44 subjects. NGS in the remaining 103 children revealed pathogenic/likely pathogenic variants in 20 subjects across 12 genes, with NR5A1 being the most frequent (7/103). Four subjects had variants of uncertain significance (VUS) deemed possibly pathogenic due to good genotype-phenotype correlation. Overall, 68/147 (46%) achieved a molecular diagnosis in this cohort. Sanger sequencing followed by NGS could provide molecular diagnosis in 46% of this Indian cohort with 46,XY DSD. SRD5A2, AR and NR5A1 were the most frequently implicated genes.

#3

Androgen insensitivity syndrome: Presentation, diagnosis, and management.

The Nurse practitioner2026 Mar 01

Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. It occurs in a complete form, producing a 46,XY female with female genitalia but no internal female reproductive organs; a partial form, producing a 46,XY newborn with genitalia intermediate between the classic male and female types; and a mild form, producing a 46,XY male with male genitalia but oligospermia. This review examines the pathophysiology, presentation, diagnosis, and management of AIS. Its goal is to prepare the advanced practice registered nurse to recognize AIS, facilitate its diagnosis, and contribute to the multidisciplinary team needed for effective management.

#4

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

Cancer reports (Hoboken, N.J.)2026 Feb

Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance and disorders of sex development (DSD) in 46, XY individuals. It is classified into three phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS). CAIS is characterized by normal external female genitalia, primary amenorrhea, and a 46, XY karyotype. While the risk of germ cell tumors (GCTs) in CAIS is generally low due to rapid germ cell depletion from absent AR responsiveness, GCTs still occur in adulthood, and clinical data on such cases remain limited-especially regarding detailed genetic profiling and long-term management outcomes. This study presents two adult CAIS patients with GCTs, managed at one tertiary hospital in Beijing, China, between 2020 and 2022. Both patients were raised as females and presented with primary amenorrhea: CASE 1: A 43-year-old married woman with a 5-year history of abdominal distension and 5-month history of impaired bowel movements. Preoperative imaging revealed bilateral pelvic masses (left: 7.7 × 6.4 cm; right: 2.2 × 2.0 cm), and laboratory tests showed elevated testosterone, LH, FSH, AFP, and β-HCG. She underwent 3-dimensional laparoscopic pelvic lumpectomy; histopathology confirmed left seminoma and right testicular tissue dysplasia. Whole exome sequencing (WES) identified four AR gene mutations (c.171_191del, c.255_257del, c.1368_1369insGGC, c.T2723C). CASE 2: A 31-year-old unmarried woman with a history of bilateral inguinal hernia repair (age 2) and prior right pelvic lumpectomy (1 year 8 months prior, with histopathology confirming seminoma). She presented for management of a residual left pelvic mass (3.4 × 2.0 cm). Laboratory tests showed elevated testosterone, LH, and FSH; AFP and β-HCG were normal. She underwent three-dimensional laparoscopic left pelvic lumpectomy; histopathology confirmed intratubular germ cell neoplasia. WES identified three AR gene mutations (c.171_179del, c.255_257del, c.G2495A). The two cases highlight the importance of integrating clinical, imaging, hormonal, and genetic data for diagnosing CAIS with GCTs. WES effectively identified multiple AR mutations, which may contribute to the severe CAIS phenotype and GCT development. Postoperative follow-up (12-24 months) showed no tumor recurrence, and hormone replacement therapy maintained normal secondary sexual characteristics. These findings improve understanding of rare CAIS-GCT comorbidity and support optimized diagnostic and management strategies.

#5

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 gynecology2026 Feb 15

Prophylactic gonadectomy has been historically recommended postpubertally for individuals with complete androgen insensitivity syndrome (CAIS) to mitigate gonadal malignancy risk. It is recognized that a proportion of individuals with CAIS choose to live with the risk of malignancy rather than undergo gonadectomy and subsequent long-term hormone treatment. This retrospective study included all new postpubertal patients with CAIS seen between 2000 and 2025 at a single UK differences of sex development center. Demographic characteristics, presentation, histopathology, gonadal surveillance, and psychological data were reviewed. Descriptive statistics were used, with temporal trends analyzed using linear and logistic regression. This study included 187 patients diagnosed with CAIS, of whom 89/187 (47.6%) had genetic testing identifying a mutation affecting their androgen receptor gene. At review, 28/187 (15.0%) retained their gonads, with a significant increase in gonadal retention over time (P = .002). In the last 5 years, 76.5% opted for retention. Among the 28 individuals who chose to retain their gonads, 24/28 (85%) had a psychological review, with themes explored including identity, secrecy, repression of CAIS, health-related anxiety, and negative health care experiences. Of the group who had undergone gonadectomy (159/187, 85%), the median age at surgery was 17 years (IQR = 6-19), with a temporal trend toward increasing age at time of gonadectomy over time (P < .001). Of those with a confirmed androgen receptor mutation (n = 89) who underwent gonadectomy (40/89, 44.9%), histopathology was available in 40/89 (44.9%): malignancy was found in 1 (4.0%), precursor lesions in 4 (10.0%), and benign gonadal lesions in 22 (55%), most commonly Sertoli adenoma (18/40, 45%). An increasing proportion of individuals with CAIS are choosing to retain their gonads rather than have postpubertal gonadectomy. Malignancy incidence in this cohort was low, consistent with recent literature. Further work should explore decision-making factors and how gonadal function and malignancy risk in CAIS change through adulthood.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC728 artigos no totalmostrando 200

2026

Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.

Journal of minimal access surgery
2026

Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.

Clinical endocrinology
2026

Androgen insensitivity syndrome: Presentation, diagnosis, and management.

The Nurse practitioner
2026

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

Cancer reports (Hoboken, N.J.)
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

Minimally Invasive Sigmoid Colon Vaginoplasty: Step-by-Step Surgical Technique.

Diseases of the colon and rectum
2026

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

Cureus
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

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

Asian journal of andrology
2025

The Heretic King: Possible Diagnoses of Pharaoh Akhenaten.

Cureus
2026

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

Asian journal of andrology
2025

"Rare but Not Forgotten Five Cases of Swyer Syndrome": Case Series and Literature Review.

Journal of obstetrics and gynaecology of India
2025

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

Frontiers in surgery
2026

Nuclear myosin VI cooperates with actin to promote transcriptional cluster formation at androgen receptors.

The Journal of biological chemistry
2025

Gonadal Tissue Cryopreservation for a Girl with Complete Androgen Insensitivity Syndrome.

Journal of pediatric and adolescent gynecology
2025

Rare intraoperative findings during the management of pediatric inguinal pathologies: a decade of experience.

Frontiers in pediatrics
2025

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Reports (MDPI)
2025

Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.

World journal of diabetes
2025

Comprehensive androgen-dependent transcriptome analysis in human genital tissue.

BMC genomics
2026

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.

Radiology case reports
2026

The Sexual Health and Well-being of Individuals With Complete Androgen Insensitivity Syndrome (CAIS).

Journal of pediatric and adolescent gynecology
2025

A case of bilateral oophorectomy in a 40-day-old female due to a misdiagnosis of complete androgen insensitivity syndrome.

Annals of medicine and surgery (2012)
2025

Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management.

Journal of clinical research in pediatric endocrinology
2025

Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.

Frontiers in endocrinology
2025

Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.

Urology case reports
2026

Screening for gonadal malignancy in androgen insensitivity syndrome: A systematic review.

Journal of pediatric urology
2025

Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.

The American journal of case reports
2025

Varied presentation of female external genitalia - a record analysis.

Acta chirurgiae plasticae
2025

Gender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.

Journal of Indian Association of Pediatric Surgeons
2025

Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).

Clinical endocrinology
2025

What's in a name: Imaging nomenclature in variations of sex development.

Journal of pediatric urology
2025

A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.

Current issues in molecular biology
2025

Complete Androgen Insensitivity Syndrome in a Phenotypic Female: The Role of Frozen Section in Assisting Diagnosis.

Cureus
2026

Testis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.

The Journal of clinical endocrinology and metabolism
2025

Approach to the Patient With a Difference of Sexual Development.

The Journal of clinical endocrinology and metabolism
2025

Experience with pediatric and adult cases of ambiguous genitalia reconstructed with a single stage feminizing genitoplasty procedure.

Acta chirurgiae plasticae
2025

A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.

The Journal of international medical research
2025

46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.

Endocrine journal
2025

Serial evaluation of gonads of complete androgen insensitivity syndrome from birth to puberty: Is gonadectomy necessary?

Urology case reports
2025

Spatial ability, episodic memory, and emotion recognition in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.

Hormones and behavior
2025

Familial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.

Endocrine
2025

Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report.

Frontiers in pediatrics
2025

Androgen insensitivity and the evolving genetic heterogeneity.

Best practice &amp; research. Clinical endocrinology &amp; metabolism
2025

Luteinizing Hormone Regulates Testosterone Production, Leydig Cell Proliferation, Differentiation, and Circadian Rhythm During Spermatogenesis.

International journal of molecular sciences
2025

Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.

Journal of endocrinological investigation
2025

Complete Androgen Insensitivity Syndrome: Role of Imaging for Diagnosis.

The Indian journal of radiology &amp; imaging
2025

Gendered interests and behavior in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.

Hormones and behavior
2025

The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.

Orphanet journal of rare diseases
2025

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Frontiers in bioscience (Scholar edition)
2025

Genital masculinizing reconstruction for untreated intersex individuals in adulthood: a case report.

Translational andrology and urology
2025

Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.

Journal of medical case reports
2024

Next-Generation Sequencing Infertility Panel in Turkey: First Results.

Balkan journal of medical genetics : BJMG
2025

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.

Frontiers in pediatrics
2024

Redefining Vaginal Agenesis Management: A Comprehensive Review.

Cureus
2025

A case of testicular leiomyoma in androgen insensitivity syndrome: exploring malignancy controversies.

Oxford medical case reports
2025

Novel and recurrent genetic variants associated with male and female infertility.

Journal of applied genetics
2025

Single-Port Laparoscopic Bilateral Orchiectomy Via Total Extraperitoneal Approach in Androgen Insensitivity Syndrome.

Journal of minimally invasive gynecology
2024

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.

The application of clinical genetics
2024

McIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.

Clinical case reports
2024

Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review.

The Journal of international medical research
2025

Psychiatric Aspects of Differences of Sex Development: Uncertainty in Our Knowledge.

The Journal of clinical endocrinology and metabolism
2025

Molecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome.

Endocrine connections
2023

Dilemmas of adult woman with 46,XY disorders of sexual development: A case report.

International journal of surgery case reports
2024

Challenges in laparoscopic gonadectomy for complete androgen insensitivity syndrome with nonpalpable inguinal glands.

International journal of surgery case reports
2024

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.

Diseases (Basel, Switzerland)
2024

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.

BMC medical genomics
2025

Psychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.

The Journal of clinical endocrinology and metabolism
2024

Unanticipated diagnosis of Swyer syndrome: a case report.

Annals of medicine and surgery (2012)
2024

[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Complete androgen insensitivity syndrome due to a novel variant of AR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Structural perspectives on the androgen receptor, the elusive shape-shifter.

Steroids
2025

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

The Journal of clinical endocrinology and metabolism
2024

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Biomedicines
2024

Tumour masquerading juvenile angiofibroma in a female; unveiling glomangiopericytoma-a rare sinonasal histopathology.

BMJ case reports
2024

[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

Recommendations for 46,XY Disorders/Differences of Sex Development Across Two Decades: Insights from North American Pediatric Endocrinologists and Urologists.

Archives of sexual behavior
2024

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.

Scientific reports
2024

Androgen receptor post-translational modifications and their implications for pathology.

Biochemical Society transactions
2024

Microphallus early management in infancy saves adulthood sensual life: A ‎‎comprehensive review.

World journal of clinical pediatrics
2024

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

European journal of endocrinology
2023

A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.

Acta endocrinologica (Bucharest, Romania : 2005)
2025

Hydropathic AF-2 variants in the androgen receptor gene among androgen insensitivity patients.

Andrology
2024

Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases.

Indian journal of endocrinology and metabolism
2024

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.

Medicine
2024

Clinical and genetic characteristics of disorders of sex development in Sudanese patients.

African journal of reproductive health
2024

Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review.

Frontiers in pediatrics
2024

[Expert consensus on the diagnosis and treatment of androgen insensitivity syndrome in children (2024)].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

[Current status and challenges in the diagnosis and treatment of androgen insensitivity syndrome in Chinese children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Indian journal of pediatrics
2024

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

The application of clinical genetics
2024

In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.

Journal of obstetrics and gynaecology of India
2024

Long-term outcome of gender assignment in individuals with 46, XY DSD assigned female sex in multicultural society.

Journal of pediatric urology
2024

Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.

Abdominal radiology (New York)
2024

The role of pre- and postnatal investigations in suspected isolated hypospadias.

Journal of gynecology obstetrics and human reproduction
2024

A case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia.

Hernia : the journal of hernias and abdominal wall surgery
2024

MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2024

A case of mild partial androgen insensitivity syndrome in a juvenile boy.

The Journal of international medical research
2024

Rare Case of Complete Androgen Insensitivity Syndrome.

Cureus
2024

Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy.

Journal of clinical research in pediatric endocrinology
2024

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli-Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review.

Journal of clinical medicine
2023

Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.

International journal of reproductive biomedicine
2024

Congenital malformations of the female genital organs.

Ginekologia polska
2024

Androgen receptor deficiency is associated with reduced aromatase expression in the ventromedial hypothalamus of male cichlids.

Annals of the New York Academy of Sciences
2024

Complete androgen insensitivity syndrome diagnosed after inguinal surgery in era of modern technology: a case report.

Annals of medicine and surgery (2012)
2024

Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans.

Cell death &amp; disease
2024

Spindly reason for a pulmonary embolism.

BMJ case reports
2023

Urethral reconstruction using amniotic membrane allograft in hereditary androgen insensitivity syndrome: a case series.

Journal of surgical case reports
2023

Induction of lactation in a patient with complete androgen insensitivity syndrome.

Endocrinology, diabetes &amp; metabolism case reports
2024

Early diagnosis of androgen insensitivity syndrome with cell-free fetal DNA screening: A case report.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2023

Abducens Nerve Palsy and Subretinal Fluid Related to Idiopathic Intracranial Hypertension in Androgen Insensitivity Syndrome: A Case Report.

Korean journal of ophthalmology : KJO
2023

Estimation of the prevalence of uterine infertility and its different causes in France according to data from a literature review.

Journal of gynecology obstetrics and human reproduction
2023

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.

The Journal of steroid biochemistry and molecular biology
2023

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.

Cureus
2023

Dermatologic care of patients with differences of sex development.

International journal of women's dermatology
2023

Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant.

Balkan journal of medical genetics : BJMG
2023

Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.

The Journal of clinical endocrinology and metabolism
2023

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

PloS one
2023

A Case Report on Ambiguous Genitalia: A Diagnostic, Therapeutic, and Cosmetic Challenge.

Cureus
2023

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.

Nagoya journal of medical science
2023

ZIP9 mediates the effects of DHT on learning, memory and hippocampal synaptic plasticity of male Tfm and APP/PS1 mice.

Frontiers in endocrinology
2023

Androgen insensitivity syndrome: a review.

Journal of endocrinological investigation
2023

Molecular genetics and general management of androgen insensitivity syndrome.

Intractable &amp; rare diseases research
2023

A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome.

Frontiers in genetics
2023

Complete androgen insensitivity Syndrome: A rare case report.

Asian journal of surgery
2023

Progestin-related breast volume changes in a woman with complete androgen insensitivity syndrome (CAIS).

Endocrinology, diabetes &amp; metabolism case reports
2023

A prime editor efficiently repaired human induced pluripotent stem cells with AR gene mutation (c.2710G > A; p. V904M).

Stem cell research
2023

Small-Molecule Inhibition of Androgen Receptor Dimerization as a Strategy against Prostate Cancer.

ACS central science
2023

Case Report: Surgery and genetic analysis of a complete androgen insensitivity syndrome family with testicular malignant tumors.

Frontiers in genetics
2023

'Distraction Vaginogenesis': Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats.

Bioengineering (Basel, Switzerland)
2023

Formin-mediated nuclear actin at androgen receptors promotes transcription.

Nature
2023

A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance.

Science advances
2023

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2023

An Early Case of Complete Androgen Insensitivity Syndrome.

Journal of investigative medicine high impact case reports
2023

Complete androgen insensitivity syndrome: a case report and literature review.

The Journal of international medical research
2023

Study of novel androgen receptor V770 variant in androgen insensitivity syndrome patients reveals the transitional state of the androgen receptor ligand binding domain homodimer.

Protein science : a publication of the Protein Society
2023

Potential risk of inguinal hernia in complete androgen insensitivity syndrome.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2023

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome.

Surgery journal (New York, N.Y.)
2022

Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States.

Frontiers in endocrinology
2023

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.

Annals of pediatric endocrinology &amp; metabolism
2023

Persistence of foetal testicular features in patients with defective androgen signalling.

European journal of endocrinology
2023

Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis.

Gene
2023

Vaginal Reconstruction in Patients with vaginal agenesis: Options and Outcome: A single-center experience.

Pakistan journal of medical sciences
2022

Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B.

Frontiers in endocrinology
2023

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

Molecular human reproduction
2022

Challenges in the Diagnosis of XY Differences of Sexual Development.

Medicina (Kaunas, Lithuania)
2022

Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea.

Children (Basel, Switzerland)
2023

Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.

Urology
2023

[Complete androgen insensitivity syndrome: diagnosis and multidisciplinary management].

Revista medica del Instituto Mexicano del Seguro Social
2022

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing.

Frontiers in genetics
2022

[Timing of gonadectomy in patients with complete androgen insensitivity syndrome].

Revue medicale de Liege
2023

Challenges Waiting for an Adult with DSD.

Hormone research in paediatrics
2022

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.

Sao Paulo medical journal = Revista paulista de medicina
2023

Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2023

Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study.

Journal of biomolecular structure &amp; dynamics
2022

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.

Annals of human biology
2022

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Frontiers in genetics
2022

Three-dimensional Printer Molds for Vaginal Agenesis: An Individualized Approach as Conservative Treatment.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2022

Cohort profile: pathways to care among people with disorders of sex development (DSD).

BMJ open
2022

A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development.

Health psychology and behavioral medicine
2022

Simulating androgen receptor selection in designer yeast.

Synthetic and systems biotechnology
2023

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

Journal of endocrinological investigation
2022

Complete androgen insensitivity syndrome - rare case of malignancy of dysgenetic gonads.

Ceska gynekologie
2023

Surgical disorders in pediatric and adolescent gynecology: Vaginal and uterine anomalies.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2022

Total corpora mobilization for penile reconstruction.

International braz j urol : official journal of the Brazilian Society of Urology
2022

[A case of complete androgen insensitivity syndrome with special family history and its genetic analysis].

Zhonghua nan ke xue = National journal of andrology
2022

Attitudes toward fertility-related care and education of adolescents and young adults with differences of sex development: Informing future care models.

Journal of pediatric urology
2022

Mild Androgen Insensitivity Syndrome: The Current Landscape.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2022

Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study.

Journal of personalized medicine
2022

Evaluation of the Interaction of Sex Hormones and Cardiovascular Function and Health.

Current heart failure reports
2022

Management of Retained Intraabdominal Gonads in Complete Androgen Insensitivity.

Urology
2022

Allosteric interactions prime androgen receptor dimerization and activation.

Molecular cell
2023

Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome.

Genes &amp; genomics
2022

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.

Reproductive sciences (Thousand Oaks, Calif.)
2022

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.

European journal of endocrinology
2022

Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.

Clinica chimica acta; international journal of clinical chemistry
2022

[Androgen Insensitivity Syndrome with Bilateral Cryptorchidism and Seminoma in Tibet:Report of One Case].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2022

[Clinical Characterization of Patients with Ovarian Mass Combined with Dysplasia of Secondary Sexual Characteristics].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2022

Two Compact Cas9 Ortholog-Based Cytosine Base Editors Expand the DNA Targeting Scope and Applications In Vitro and In Vivo.

Frontiers in cell and developmental biology
2022

Evaluating complete androgen insensitivity syndrome with a multimodal sonography system.

Quantitative imaging in medicine and surgery
2022

What Does Androgen Receptor Signaling Pathway in Sertoli Cells During Normal Spermatogenesis Tell Us?

Frontiers in endocrinology
2022

Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome.

Endocrine
2022

Yolk Sac Tumor in an Infant with Androgen Insensitivity Syndrome: A Case Report and Review of the Literature.

International journal of surgical pathology
2022

Sex-specific differences in KCC2 localisation and inhibitory synaptic transmission in the rat hippocampus.

Scientific reports
2022

The T850D Phosphomimetic Mutation in the Androgen Receptor Ligand Binding Domain Enhances Recruitment at Activation Function 2.

International journal of molecular sciences
2022

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study.

Sao Paulo medical journal = Revista paulista de medicina
2022

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.

Journal of clinical research in pediatric endocrinology
2022

Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.

Molecular and cellular endocrinology
2021

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report.

World journal of clinical cases
2022

Uterine Transplantation: Recipient Patient Populations.

Clinical obstetrics and gynecology
2022

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.

Human mutation
2022

Ventral clitoroplasty preserves dorsal nerves in case of partial androgen insensitivity syndrome: 4 years follow-up.

The journal of obstetrics and gynaecology research
2022

Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function.

The journal of sexual medicine
2021

Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.

Frontiers in endocrinology
2021

Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report.

Medicina (Kaunas, Lithuania)
2022

Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female.

Archives of sexual behavior
2021

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

International journal of molecular sciences
2021

[A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics].

Problemy endokrinologii
2022

Differences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome.

Clinical and translational science
2021

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.

Orphanet journal of rare diseases
2022

The role of steroid hormones in the sexual differentiation of the human brain.

Journal of neuroendocrinology
2022

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.

Andrologia
Ver todos os 728 no EuropePMC

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Comunidades

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Doenças relacionadas

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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. Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
    Journal of minimal access surgery· 2026· PMID 41859946mais citado
  2. Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.
    Clinical endocrinology· 2026· PMID 41796107mais citado
  3. Androgen insensitivity syndrome: Presentation, diagnosis, and management.
    The Nurse practitioner· 2026· PMID 41731674mais citado
  4. Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.
    Cancer reports (Hoboken, N.J.)· 2026· PMID 41725111mais citado
  5. 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· PMID 41698569mais citado
  6. Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.
    Case Rep Genet· 2026· PMID 41970947recente
  7. Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology.
    Arch Gynecol Obstet· 2026· PMID 41957233recente
  8. Nile tilapia skin graft as a new treatment for vaginal agenesis in androgen insensitivity syndrome: a case series.
    Eur J Obstet Gynecol Reprod Biol· 2026· PMID 41955831recente
  9. High-resolution functional mapping of androgen receptor variants.
    Nat Biomed Eng· 2026· PMID 41942549recente
  10. Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.
    Biochem Genet· 2026· PMID 41893972recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:754(Orphanet)
  2. OMIM OMIM:300068(OMIM)
  3. MONDO:0019154(MONDO)
  4. GARD:5803(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q512313(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 insensibilidade aos androgênios
Compêndio · Raras BR

Síndrome de insensibilidade aos androgênios

ORPHA:754 · MONDO:0019154
Prevalência
Unknown
Herança
X-linked recessive
CID-10
E34.5 · Síndrome de resistência a andrógenos
CID-11
Ensaios
2 ativos
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0039585
EuropePMC
Wikidata
Wikipedia
Papers 10a
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