Raras
Buscar doenças, sintomas, genes...
Insensibilidade aos androgênios completa
ORPHA:99429CID-10 · E34.5CID-11 · LD2A.4DOENÇA RARA

A Síndrome de Insensibilidade Completa aos Andrógenos (SICA) é uma forma da Síndrome de Insensibilidade aos Andrógenos (SIA), uma condição do desenvolvimento sexual (DDS). Ela se caracteriza por uma pessoa que, geneticamente, tem o padrão 46,XY, mas apresenta genitália externa feminina. Além disso, ela tem os testículos desenvolvidos normalmente, porém eles não desceram para o local habitual, e seu corpo não responde aos níveis de andrógenos (hormônios masculinos) esperados para a idade.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Insensibilidade Completa aos Andrógenos (SICA) é uma forma da Síndrome de Insensibilidade aos Andrógenos (SIA), uma condição do desenvolvimento sexual (DDS). Ela se caracteriza por uma pessoa que, geneticamente, tem o padrão 46,XY, mas apresenta genitália externa feminina. Além disso, ela tem os testículos desenvolvidos normalmente, porém eles não desceram para o local habitual, e seu corpo não responde aos níveis de andrógenos (hormônios masculinos) esperados para a idade.

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

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.83
Worldwide
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E34.5
Você se identifica com essa condição?
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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

🧬
Pele e cabelo
4 sintomas
🧠
Neurológico
2 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
1 sintomas
🫘
Rins
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

90%prev.
Vagina cega
Muito frequente (99-80%)
90%prev.
Aumento do nível sérico de testosterona
Muito frequente (99-80%)
90%prev.
Morfologia anormal da genitália interna feminina
Muito frequente (99-80%)
90%prev.
Aumento do estradiol sérico
Muito frequente (99-80%)
90%prev.
Aplasia/Hipoplasia da tuba uterina
Muito frequente (99-80%)
90%prev.
Alta estatura
Muito frequente (99-80%)
25sintomas
Muito frequente (13)
Frequente (7)
Ocasional (2)
Muito raro (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Vagina cegaBlind vagina
Muito frequente (99-80%)90%
Aumento do nível sérico de testosteronaIncreased serum testosterone level
Muito frequente (99-80%)90%
Morfologia anormal da genitália interna femininaAbnormal morphology of female internal genitalia
Muito frequente (99-80%)90%
Aumento do estradiol séricoIncreased serum estradiol
Muito frequente (99-80%)90%
Aplasia/Hipoplasia da tuba uterinaAplasia/Hypoplasia of the fallopian tube
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico552PubMed
Últimos 10 anos200publicações
Pico202130 papers
Linha do tempo
2026Hoje · 2026🧪 2021Primeiro ensaio clínico📈 2021Ano 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 1 variantes classificadas pelo ClinVar.

1
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
AR: NM_000044.6(AR):c.1095C>A (p.Tyr365Ter) [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 — Insensibilidade aos androgênios completa

🗺️

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
257 papers (10 anos)
#1

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.

#2

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.

#3

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

Cureus2026 Jan

Complete androgen insensitivity syndrome (CAIS) is an uncommon disorder of sexual differentiation in which a genetically male (46,XY) individual presents with a typical female phenotype due to androgen receptor resistance. We report the case of an 18-year-old phenotypic female with primary amenorrhea and lower abdominal pain. Clinical assessment showed normal breast development with markedly reduced body and pubic hair. Hormonal studies revealed elevated LH and testosterone levels. Imaging confirmed the absence of Müllerian structures, and karyotyping demonstrated a 46,XY pattern. Bilateral laparoscopic orchidectomy was carried out, followed by estrogen therapy and psychological support. This case highlights the clinical clues essential for the early diagnosis of CAIS and underscores the need for empathetic counselling and coordinated multidisciplinary care.

#4

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 differentiation2026

The transcription factors Forkhead box L2 (FOXL2) and SRY-box transcription factor 9 (SOX9), among others, are required for embryonic ovarian and testicular differentiation, respectively. In patients with complete androgen insensitivity syndrome (CAIS), the testes are usually undescended and may show histological changes similar to those sometimes seen in patients with undescended testes (UDT). The aim of this study was to explore the expression of FOXL2 and SOX9 in testes from patients with CAIS and UDT. Immunohistochemical staining with FOXL2 and SOX9 was performed on samples from 13 patients with CAIS and 20 with UDT. In addition to nuclear SOX9 expression in intratubular Sertoli cells, FOXL2 expression was present in stromal cells in 8 of 9 patients with CAIS and in 1 of 20 with UDT. Moreover, FOXL2 expression was found in the rete testis in three of nine samples that included this region. Expression of the ovarian-specific marker FOXL2 in regions of the testes of patients with CAIS and UDT has not previously been documented and suggests partial activation of the female pathway within these testes. Further research is needed, including FOXL2 protein expression studies in larger series and molecular studies, e.g., transcriptome analysis, to understand the pathophysiology and clinical significance of these novel findings.

#5

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

Asian journal of andrology2026 Mar 01

Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor ( AR ) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus. The aim of this study was to investigate the relationship between genotype and phenotype, surgical treatments, and complications of AIS patients. We retrospectively evaluated the medical records of patients who were diagnosed with AIS after genetic testing and underwent initial surgery at Beijing Children's Hospital, Capital Medical University (Beijing, China), from August 2007 to August 2023. A total of 46 patients were included in this study. Four novel variants, p.Y572S, p.L57dup, p.L882del, and p.V888A, were identified. AR variants are concentrated in the ligand-binding domain (LBD) region (60.9%) and are predominantly missense mutations (78.3%). There was no significant difference in the phenotypes between the LBD group and the non-LBD group ( P > 0.05). Nonsense or frameshift mutations may accompany more severe phenotypes or complete androgen insensitivity syndrome (CAIS; P = 0.011). For CAIS patients with inguinal hernias, we recommend that hernia ligation surgery should be performed during childhood and that gonadectomy should be considered during adolescence or postadolescence. Preoperative hormone stimulation (PHS) had a positive effect on penile growth ( P = 0.0014). Compared with patients with severe hypospadias, those patients with partial androgen insensitivity syndrome (PAIS) experience fewer complications from urethroplasty. If the conditions for a one-stage operation are not adequately met, it is advisable to perform staged surgery.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC317 artigos no totalmostrando 200

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

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

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

Asian journal of andrology
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

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

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

Journal of Indian Association of Pediatric Surgeons
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

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

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

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

Journal of medical case reports
2024

Redefining Vaginal Agenesis Management: A Comprehensive Review.

Cureus
2024

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

The application of clinical genetics
2024

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

The Journal of international medical research
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)
2025

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

The Journal of clinical endocrinology and metabolism
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

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

Biomedicines
2024

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

Zhonghua er ke za zhi = Chinese journal of pediatrics
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

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

Frontiers in pediatrics
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

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

Abdominal radiology (New York)
2024

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

Hernia : the journal of hernias and abdominal wall surgery
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

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
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

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

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

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

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

Frontiers in genetics
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

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

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

European journal of endocrinology
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

[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

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

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

BMJ open
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

[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

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

Reproductive sciences (Thousand Oaks, Calif.)
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

Evaluating complete androgen insensitivity syndrome with a multimodal sonography system.

Quantitative imaging in medicine and surgery
2022

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

Endocrine
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

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

The journal of sexual medicine
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

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
2022

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2021

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria.

Orphanet journal of rare diseases
2021

Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome.

Frontiers in endocrinology
2021

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

Human genome variation
2022

The radiologist's role in assessing differences of sex development.

Pediatric radiology
2021

Physical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development.

Journal of the Endocrine Society
2021

Generation of two human induced pluripotent stem cell lines from a patient with complete androgen insensitivity syndrome with a hemizygous single nucleotide variant in the androgen receptor (AR) gene.

Stem cell research
2021

Disorders of sex development and female reproductive capacity: A literature review.

Systems biology in reproductive medicine
2021

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.

Endocrinology, diabetes &amp; metabolism case reports
2021

Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome.

BMJ case reports
2021

18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) - case report.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2021

Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2021

Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report.

Journal of medical case reports
2021

Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.

Annals of pediatric endocrinology &amp; metabolism
2021

Using molecular genetics in complete androgen insensitivity syndrome: toward a more personalized medicine approach.

Fertility and sterility
2021

Complete androgen insensitivity syndrome with intra-abdominal seminoma in a phenotypic female: A rare presentation.

Journal of cancer research and therapeutics
2021

Individualized care for patients with intersex (differences of sex development): part 4/5.Considering the Ifs, Whens, and Whats regarding sexual-reproductive system surgery.

Journal of pediatric urology
2020

Laparoscopic Repositioning of Gonads from the Labia Majora or Inguinal Canal into the Abdominal Cavity in Pediatric Complete Androgen Insensitivity Syndrome Patients with Inguinal Hernia.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.

Fertility and sterility
2021

Complete Androgen Insensitivity Syndrome: From Bench to Bed.

International journal of molecular sciences
2021

Molecular basis of androgen insensitivity syndromes.

Molecular and cellular endocrinology
2021

Participant- and Clinician-Reported Long-Term Outcomes After Surgery in Individuals with Complete Androgen Insensitivity Syndrome.

Journal of pediatric and adolescent gynecology
2021

Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.

Journal of pediatric urology
2021

Complete androgen insensitivity syndrome (CAIS) and eating disorders: a case report.

Eating and weight disorders : EWD
2020

Third gender - the clinical image of Morris syndrome.

Endokrynologia Polska
2020

Bilateral inguinal masses or hernias in a female teenager with delayed menarche: Think of Complete Androgen Insensitivity Syndrome (CAIS), a case report.

International journal of surgery case reports
2020

The LH/FSH ratio is not a sex-dimorphic marker after infancy: data from 6417 healthy individuals and 125 patients with Differences of Sex Development.

Human reproduction (Oxford, England)
2020

Molecular mechanisms underlying AMH elevation in hyperoestrogenic states in males.

Scientific reports
2020

Risk of gonadal neoplasia in patients with disorders/differences of sex development.

Cancer epidemiology
2020

Two cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS).

Journal of pediatric surgery case reports
2020

Gender Dysphoria: A Review Investigating the Relationship Between Genetic Influences and Brain Development.

Adolescent health, medicine and therapeutics
2021

Ultrasonography for inguinal hernia led to the diagnosis of complete androgen insensitivity syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2020

Congenital uterovaginal abnormalities, it's embryogenesis, surgical management and clinical implications.

Obstetrics &amp; gynecology science
2020

Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases.

Scientific reports
2020

Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.

The Journal of clinical endocrinology and metabolism
2020

Androgen Insensitivity Syndrome: A rare genetic disorder.

International journal of surgery case reports
2021

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.

Journal of endocrinological investigation
2020

Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.

Reproductive biology and endocrinology : RB&amp;E
2020

A young girl with right ovarian torsion and left ovarian ectopy.

Italian journal of pediatrics
2020

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.

Journal of endocrinological investigation
2021

Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.

Journal of health psychology
2020

Conservative Management of Vaginal Hypoplasia.

Journal of clinical research in pediatric endocrinology
2019

Complete Androgen Insensitivity Syndrome: Dilemmas for Further Management after Gonadectomy.

Journal of human reproductive sciences
2019

Concurrent bilateral testicular hamartomas and serous borderline tumors in a patient with complete androgen insensitivity syndrome: a case report and review of the literature.

International journal of clinical and experimental pathology
2019

[Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender].

Ugeskrift for laeger
2020

Induced Lactation in a Mother Through Surrogacy With Complete Androgen Insensitivity Syndrome (CAIS).

Journal of human lactation : official journal of International Lactation Consultant Association
2019

Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley.

Indian journal of endocrinology and metabolism
2020

The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome.

Comprehensive child and adolescent nursing
2019

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.

International journal of molecular sciences
2019

A shared decision-making tool for individuals living with complete androgen insensitivity syndrome.

Seminars in pediatric surgery
2019

Bone mineral density, body composition and metabolic profiles in adult women with complete androgen insensitivity syndrome and removed gonads using oral or transdermal estrogens.

European journal of endocrinology
2019

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report.

JNMA; journal of the Nepal Medical Association
2019

Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.

Journal of medical case reports
2019

Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1.

The Journal of steroid biochemistry and molecular biology
2019

Initial assessment of a child with suspected disorder of sex development.

JPMA. The Journal of the Pakistan Medical Association
2021

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia.

Journal of investigative surgery : the official journal of the Academy of Surgical Research
2019

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS).

International journal of environmental research and public health
2019

A novel missense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2019

Complete Androgen Insensitivity Syndrome: Successful Laparoscopic Management.

Journal of obstetrics and gynaecology of India
2019

[Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019

Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2019

Laparoscopic Bilateral Gonadectomy and Inguinal Hernia Repair with Mesh for Complete Androgen Insensitivity Syndrome: A Case Report.

Journal of pediatric and adolescent gynecology
2019

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.

Human reproduction (Oxford, England)
2019

Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics.

Steroids
2018

Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism.

Frontiers in endocrinology
2018

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.

Annals of pediatric endocrinology &amp; metabolism
2019

The Sexual Differentiation of the Human Brain: Role of Sex Hormones Versus Sex Chromosomes.

Current topics in behavioral neurosciences
2019

Sexual Experience before Treatment for Vaginal Agenesis: A Retrospective Review of 137 Women.

Journal of pediatric and adolescent gynecology
2019

Uterus transplantation in patients with complete androgen insensitivity syndrome (CAIS): Why CAIS cannot be considered as an indication in France.

Journal of gynecology obstetrics and human reproduction
2018

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Endocrine connections
2019

New mutation causing androgen insensitivity syndrome - a case report and review of literature.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2019

Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2018

Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).

Health care for women international
2018

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

Hormone research in paediatrics
2018

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2018

Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study.

Archives of sexual behavior
2018

Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report.

Medicine
2018

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.

The lancet. Diabetes &amp; endocrinology
2018

Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2018

A challenging case of primary amenorrhoea.

BMJ case reports
2018

Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development.

The Journal of clinical endocrinology and metabolism
2018

Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.

Psychoneuroendocrinology
2018

Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene.

Steroids
2018

Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome.

Clinical genetics
2018

Prenatal testosterone and theory of mind development: Findings from disorders of sex development.

Psychoneuroendocrinology
2018

Aberrant breast tissue in complete androgen insensitivity syndrome.

Clinical and experimental dermatology
2018

Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-α Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome.

Archives of sexual behavior
2017

Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome.

Fetal and pediatric pathology
2018

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.

Endocrine journal
2017

Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.

Journal of genetics
2017

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.

Journal of psychosomatic research
2018

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome.

Asian journal of andrology
2016

Refractory diversion neovaginitis in a sigmoid-colon-derived neovagina: clinical and histopathological considerations.

Frontline gastroenterology
2017

[Complete androgen insensitivity syndrome associated with vesical fistula: a case report and literature review].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2017

Female with 46, XY karyotype.

Obstetrics &amp; gynecology science
2017

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

The Journal of steroid biochemistry and molecular biology
2017

[The Wish for a Child in the Case of (Permanent) Infertility: Development of the "German Questionnaire on Attitudes Toward Motherhood"].

Psychotherapie, Psychosomatik, medizinische Psychologie
2017

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy.

Gynecology and minimally invasive therapy
2017

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

Science China. Life sciences
2017

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic.

Endocrine connections
2017

Is the Second to Fourth Digit Ratio (2D:4D) a Biomarker of Sex-Steroids Activity?

Pediatric endocrinology reviews : PER
2017

Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.

Clinical endocrinology
2017

Female phenotype with male karyotype: a clinical enigma.

BMJ case reports
2017

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
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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. 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
  2. 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
  3. Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
    Cureus· 2026· PMID 41658711mais citado
  4. 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· PMID 41632748mais citado
  5. Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
    Asian journal of andrology· 2026· PMID 41504504mais 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

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99429(Orphanet)
  2. MONDO:0021023(MONDO)
  3. GARD:10597(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q473262(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

Insensibilidade aos androgênios completa
Compêndio · Raras BR

Insensibilidade aos androgênios completa

ORPHA:99429 · MONDO:0021023
Prevalência
1-9 / 1 000 000
Herança
X-linked recessive
CID-10
E34.5 · Síndrome de resistência a andrógenos
CID-11
Ensaios
2 ativos
Início
All ages
Prevalência
0.83 (Worldwide)
MedGen
UMLS
C0936016
EuropePMC
Wikidata
Papers 10a
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