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).
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).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 35 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.
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
NucleusCytoplasm
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.
Variantes genéticas (ClinVar)
569 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 52 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de insensibilidade aos androgênios
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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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
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.
Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.
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.
Androgen insensitivity syndrome: Presentation, diagnosis, and management.
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.
Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.
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.
Evolution of Gonadal Management in Complete Androgen Insensitivity Syndrome: A 25-Year Retrospective Cohort Study from a Dedicated Differences of Sex Development Service.
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
Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.
Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology.
Nile tilapia skin graft as a new treatment for vaginal agenesis in androgen insensitivity syndrome: a case series.
High-resolution functional mapping of androgen receptor variants.
Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.
📚 EuropePMC728 artigos no totalmostrando 200
Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
Journal of minimal access surgeryClinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.
Clinical endocrinologyAndrogen insensitivity syndrome: Presentation, diagnosis, and management.
The Nurse practitionerClinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.
Cancer reports (Hoboken, N.J.)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 gynecologyMinimally Invasive Sigmoid Colon Vaginoplasty: Step-by-Step Surgical Technique.
Diseases of the colon and rectumPrimary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
CureusOvarian-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 differentiationClinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.
Asian journal of andrologyThe Heretic King: Possible Diagnoses of Pharaoh Akhenaten.
CureusGenetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
Asian journal of andrology"Rare but Not Forgotten Five Cases of Swyer Syndrome": Case Series and Literature Review.
Journal of obstetrics and gynaecology of IndiaCase Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.
Frontiers in surgeryNuclear myosin VI cooperates with actin to promote transcriptional cluster formation at androgen receptors.
The Journal of biological chemistryGonadal Tissue Cryopreservation for a Girl with Complete Androgen Insensitivity Syndrome.
Journal of pediatric and adolescent gynecologyRare intraoperative findings during the management of pediatric inguinal pathologies: a decade of experience.
Frontiers in pediatricsPartial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.
Reports (MDPI)Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.
World journal of diabetesComprehensive androgen-dependent transcriptome analysis in human genital tissue.
BMC genomicsComplete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.
Radiology case reportsThe Sexual Health and Well-being of Individuals With Complete Androgen Insensitivity Syndrome (CAIS).
Journal of pediatric and adolescent gynecologyA 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)Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management.
Journal of clinical research in pediatric endocrinologyMolecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.
Frontiers in endocrinologyFamilial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.
Urology case reportsScreening for gonadal malignancy in androgen insensitivity syndrome: A systematic review.
Journal of pediatric urologyIdentifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.
The American journal of case reportsVaried presentation of female external genitalia - a record analysis.
Acta chirurgiae plasticaeGender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.
Journal of Indian Association of Pediatric SurgeonsDiagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).
Clinical endocrinologyWhat's in a name: Imaging nomenclature in variations of sex development.
Journal of pediatric urologyA Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.
Current issues in molecular biologyComplete Androgen Insensitivity Syndrome in a Phenotypic Female: The Role of Frozen Section in Assisting Diagnosis.
CureusTestis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.
The Journal of clinical endocrinology and metabolismApproach to the Patient With a Difference of Sexual Development.
The Journal of clinical endocrinology and metabolismExperience with pediatric and adult cases of ambiguous genitalia reconstructed with a single stage feminizing genitoplasty procedure.
Acta chirurgiae plasticaeA 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 research46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.
Endocrine journalSerial evaluation of gonads of complete androgen insensitivity syndrome from birth to puberty: Is gonadectomy necessary?
Urology case reportsSpatial ability, episodic memory, and emotion recognition in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.
Hormones and behaviorFamilial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.
EndocrineExon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report.
Frontiers in pediatricsAndrogen insensitivity and the evolving genetic heterogeneity.
Best practice & research. Clinical endocrinology & metabolismLuteinizing Hormone Regulates Testosterone Production, Leydig Cell Proliferation, Differentiation, and Circadian Rhythm During Spermatogenesis.
International journal of molecular sciencesSexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.
Journal of endocrinological investigationComplete Androgen Insensitivity Syndrome: Role of Imaging for Diagnosis.
The Indian journal of radiology & imagingGendered interests and behavior in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.
Hormones and behaviorThe clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.
Orphanet journal of rare diseasesCan Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.
Frontiers in bioscience (Scholar edition)Genital masculinizing reconstruction for untreated intersex individuals in adulthood: a case report.
Translational andrology and urologyComplete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.
Journal of medical case reportsNext-Generation Sequencing Infertility Panel in Turkey: First Results.
Balkan journal of medical genetics : BJMGMolecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.
Frontiers in pediatricsRedefining Vaginal Agenesis Management: A Comprehensive Review.
CureusA case of testicular leiomyoma in androgen insensitivity syndrome: exploring malignancy controversies.
Oxford medical case reportsNovel and recurrent genetic variants associated with male and female infertility.
Journal of applied geneticsSingle-Port Laparoscopic Bilateral Orchiectomy Via Total Extraperitoneal Approach in Androgen Insensitivity Syndrome.
Journal of minimally invasive gynecologyExpanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
The application of clinical geneticsMcIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.
Clinical case reportsComplexities of complete androgen insensitivity syndrome: insights from a case report and literature review.
The Journal of international medical researchPsychiatric Aspects of Differences of Sex Development: Uncertainty in Our Knowledge.
The Journal of clinical endocrinology and metabolismMolecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome.
Endocrine connectionsDilemmas of adult woman with 46,XY disorders of sexual development: A case report.
International journal of surgery case reportsChallenges in laparoscopic gonadectomy for complete androgen insensitivity syndrome with nonpalpable inguinal glands.
International journal of surgery case reportsComplete 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)Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.
BMC medical genomicsPsychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.
The Journal of clinical endocrinology and metabolismUnanticipated diagnosis of Swyer syndrome: a case report.
Annals of medicine and surgery (2012)[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 geneticsStructural perspectives on the androgen receptor, the elusive shape-shifter.
SteroidsGynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.
The Journal of clinical endocrinology and metabolismA Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.
BiomedicinesTumour masquerading juvenile angiofibroma in a female; unveiling glomangiopericytoma-a rare sinonasal histopathology.
BMJ case reports[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsRecommendations for 46,XY Disorders/Differences of Sex Development Across Two Decades: Insights from North American Pediatric Endocrinologists and Urologists.
Archives of sexual behaviorLINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
Scientific reportsAndrogen receptor post-translational modifications and their implications for pathology.
Biochemical Society transactionsMicrophallus early management in infancy saves adulthood sensual life: A comprehensive review.
World journal of clinical pediatricsAnalysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.
European journal of endocrinologyA 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.
Acta endocrinologica (Bucharest, Romania : 2005)Hydropathic AF-2 variants in the androgen receptor gene among androgen insensitivity patients.
AndrologyDetection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases.
Indian journal of endocrinology and metabolismPure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.
MedicineClinical and genetic characteristics of disorders of sex development in Sudanese patients.
African journal of reproductive healthComplete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review.
Frontiers in pediatrics[Expert consensus on the diagnosis and treatment of androgen insensitivity syndrome in children (2024)].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Current status and challenges in the diagnosis and treatment of androgen insensitivity syndrome in Chinese children].
Zhonghua er ke za zhi = Chinese journal of pediatricsClinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.
Indian journal of pediatricsPreimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.
The application of clinical geneticsIn Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Journal of obstetrics and gynaecology of IndiaLong-term outcome of gender assignment in individuals with 46, XY DSD assigned female sex in multicultural society.
Journal of pediatric urologyMagnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.
Abdominal radiology (New York)The role of pre- and postnatal investigations in suspected isolated hypospadias.
Journal of gynecology obstetrics and human reproductionA case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia.
Hernia : the journal of hernias and abdominal wall surgeryMYRF 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 EndocrinologyA case of mild partial androgen insensitivity syndrome in a juvenile boy.
The Journal of international medical researchRare Case of Complete Androgen Insensitivity Syndrome.
CureusAdult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy.
Journal of clinical research in pediatric endocrinologyAndrogen 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 medicineSex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.
International journal of reproductive biomedicineCongenital malformations of the female genital organs.
Ginekologia polskaAndrogen receptor deficiency is associated with reduced aromatase expression in the ventromedial hypothalamus of male cichlids.
Annals of the New York Academy of SciencesComplete androgen insensitivity syndrome diagnosed after inguinal surgery in era of modern technology: a case report.
Annals of medicine and surgery (2012)Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans.
Cell death & diseaseSpindly reason for a pulmonary embolism.
BMJ case reportsUrethral reconstruction using amniotic membrane allograft in hereditary androgen insensitivity syndrome: a case series.
Journal of surgical case reportsInduction of lactation in a patient with complete androgen insensitivity syndrome.
Endocrinology, diabetes & metabolism case reportsEarly 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 ObstetricsAbducens Nerve Palsy and Subretinal Fluid Related to Idiopathic Intracranial Hypertension in Androgen Insensitivity Syndrome: A Case Report.
Korean journal of ophthalmology : KJOEstimation 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 reproductionSerum 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 biologyA Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.
CureusDermatologic care of patients with differences of sex development.
International journal of women's dermatologyAndrogen 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 : BJMGSmall Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
The Journal of clinical endocrinology and metabolismWhole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
PloS oneA Case Report on Ambiguous Genitalia: A Diagnostic, Therapeutic, and Cosmetic Challenge.
CureusAn extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
Nagoya journal of medical scienceZIP9 mediates the effects of DHT on learning, memory and hippocampal synaptic plasticity of male Tfm and APP/PS1 mice.
Frontiers in endocrinologyAndrogen insensitivity syndrome: a review.
Journal of endocrinological investigationMolecular genetics and general management of androgen insensitivity syndrome.
Intractable & rare diseases researchA deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome.
Frontiers in geneticsComplete androgen insensitivity Syndrome: A rare case report.
Asian journal of surgeryProgestin-related breast volume changes in a woman with complete androgen insensitivity syndrome (CAIS).
Endocrinology, diabetes & metabolism case reportsA prime editor efficiently repaired human induced pluripotent stem cells with AR gene mutation (c.2710G > A; p. V904M).
Stem cell researchSmall-Molecule Inhibition of Androgen Receptor Dimerization as a Strategy against Prostate Cancer.
ACS central scienceCase Report: Surgery and genetic analysis of a complete androgen insensitivity syndrome family with testicular malignant tumors.
Frontiers in genetics'Distraction Vaginogenesis': Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats.
Bioengineering (Basel, Switzerland)Formin-mediated nuclear actin at androgen receptors promotes transcription.
NatureA hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance.
Science advancesPubertal 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 differentiationAn Early Case of Complete Androgen Insensitivity Syndrome.
Journal of investigative medicine high impact case reportsComplete androgen insensitivity syndrome: a case report and literature review.
The Journal of international medical researchStudy 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 SocietyPotential 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 EndocrinologyBilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome.
Surgery journal (New York, N.Y.)Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States.
Frontiers in endocrinologyClinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.
Annals of pediatric endocrinology & metabolismPersistence of foetal testicular features in patients with defective androgen signalling.
European journal of endocrinologyNovel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis.
GeneVaginal Reconstruction in Patients with vaginal agenesis: Options and Outcome: A single-center experience.
Pakistan journal of medical sciencesCategorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B.
Frontiers in endocrinologyComprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
Molecular human reproductionChallenges in the Diagnosis of XY Differences of Sexual Development.
Medicina (Kaunas, Lithuania)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)Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.
Urology[Complete androgen insensitivity syndrome: diagnosis and multidisciplinary management].
Revista medica del Instituto Mexicano del Seguro SocialCase 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[Timing of gonadectomy in patients with complete androgen insensitivity syndrome].
Revue medicale de LiegeChallenges Waiting for an Adult with DSD.
Hormone research in paediatricsClinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.
Sao Paulo medical journal = Revista paulista de medicinaDiagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement.
Journal of pediatric endocrinology & metabolism : JPEMCharacterization 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 & dynamicsSex dimorphism of weight and length at birth: evidence based on disorders of sex development.
Annals of human biologyA 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 geneticsThree-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 ObstetriciaCohort profile: pathways to care among people with disorders of sex development (DSD).
BMJ openA 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 medicineSimulating androgen receptor selection in designer yeast.
Synthetic and systems biotechnologyClinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.
Journal of endocrinological investigationComplete androgen insensitivity syndrome - rare case of malignancy of dysgenetic gonads.
Ceska gynekologieSurgical 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 ObstetricsTotal corpora mobilization for penile reconstruction.
International braz j urol : official journal of the Brazilian Society of Urology[A case of complete androgen insensitivity syndrome with special family history and its genetic analysis].
Zhonghua nan ke xue = National journal of andrologyAttitudes toward fertility-related care and education of adolescents and young adults with differences of sex development: Informing future care models.
Journal of pediatric urologyMild Androgen Insensitivity Syndrome: The Current Landscape.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsGrowth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study.
Journal of personalized medicineEvaluation of the Interaction of Sex Hormones and Cardiovascular Function and Health.
Current heart failure reportsManagement of Retained Intraabdominal Gonads in Complete Androgen Insensitivity.
UrologyAllosteric interactions prime androgen receptor dimerization and activation.
Molecular cellFour novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome.
Genes & genomicsCase Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.
Reproductive sciences (Thousand Oaks, Calif.)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 endocrinologyComplete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.
Clinica chimica acta; international journal of clinical chemistry[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[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 SinicaeTwo Compact Cas9 Ortholog-Based Cytosine Base Editors Expand the DNA Targeting Scope and Applications In Vitro and In Vivo.
Frontiers in cell and developmental biologyEvaluating complete androgen insensitivity syndrome with a multimodal sonography system.
Quantitative imaging in medicine and surgeryWhat Does Androgen Receptor Signaling Pathway in Sertoli Cells During Normal Spermatogenesis Tell Us?
Frontiers in endocrinologyMetabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome.
EndocrineYolk Sac Tumor in an Infant with Androgen Insensitivity Syndrome: A Case Report and Review of the Literature.
International journal of surgical pathologySex-specific differences in KCC2 localisation and inhibitory synaptic transmission in the rat hippocampus.
Scientific reportsThe T850D Phosphomimetic Mutation in the Androgen Receptor Ligand Binding Domain Enhances Recruitment at Activation Function 2.
International journal of molecular sciencesLeydig 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 medicinaMutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Journal of clinical research in pediatric endocrinologyWhole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Molecular and cellular endocrinologyComplete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report.
World journal of clinical casesUterine Transplantation: Recipient Patient Populations.
Clinical obstetrics and gynecologyGenomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Human mutationVentral clitoroplasty preserves dorsal nerves in case of partial androgen insensitivity syndrome: 4 years follow-up.
The journal of obstetrics and gynaecology researchSexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function.
The journal of sexual medicineIdentification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.
Frontiers in endocrinologyComplete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report.
Medicina (Kaunas, Lithuania)Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female.
Archives of sexual behaviorPrimary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
International journal of molecular sciences[A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics].
Problemy endokrinologiiDifferences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome.
Clinical and translational scienceAge at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Orphanet journal of rare diseasesThe role of steroid hormones in the sexual differentiation of the human brain.
Journal of neuroendocrinologyNovel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
- Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development.
- Androgen insensitivity syndrome: Presentation, diagnosis, and management.
- Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.
- Evolution of Gonadal Management in Complete Androgen Insensitivity Syndrome: A 25-Year Retrospective Cohort Study from a Dedicated Differences of Sex Development Service.
- Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.
- Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology.
- Nile tilapia skin graft as a new treatment for vaginal agenesis in androgen insensitivity syndrome: a case series.
- High-resolution functional mapping of androgen receptor variants.
- Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:754(Orphanet)
- OMIM OMIM:300068(OMIM)
- MONDO:0019154(MONDO)
- GARD:5803(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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.
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