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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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.
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 1 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 — 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
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
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.
Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
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.
Ovarian-Specific FOXL2 Protein Expression in Testes from Patients with Complete Androgen Insensitivity Syndrome and Undescended Testes.
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.
Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
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
Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.
Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology.
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.
Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
📚 EuropePMC317 artigos no totalmostrando 200
Clinical 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 gynecologyPrimary 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 differentiationGenetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
Asian journal of andrologyGonadal 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 pediatricsComprehensive 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 endocrinologyGender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.
Journal of Indian Association of Pediatric SurgeonsWhat'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 metabolismA 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 pediatricsSexual 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)Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.
Journal of medical case reportsRedefining Vaginal Agenesis Management: A Comprehensive Review.
CureusExpanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
The application of clinical geneticsComplexities of complete androgen insensitivity syndrome: insights from a case report and literature review.
The Journal of international medical researchDilemmas 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)Psychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.
The Journal of clinical endocrinology and metabolism[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 geneticsA Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.
Biomedicines[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsDetection 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.
MedicineComplete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review.
Frontiers in pediatricsIn Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Journal of obstetrics and gynaecology of IndiaMagnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.
Abdominal radiology (New York)A case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia.
Hernia : the journal of hernias and abdominal wall surgeryRare 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 endocrinologyComplete 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 & diseaseInduction 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 ObstetricsA Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.
CureusAn extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
Nagoya journal of medical scienceA 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 reportsCase Report: Surgery and genetic analysis of a complete androgen insensitivity syndrome family with testicular malignant tumors.
Frontiers in geneticsAn 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 researchPotential 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 endocrinologyPersistence of foetal testicular features in patients with defective androgen signalling.
European journal of endocrinologyChallenges 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)[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 LiegeCharacterization 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 & dynamicsCohort profile: pathways to care among people with disorders of sex development (DSD).
BMJ openClinical 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 Obstetrics[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 urologyCase Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.
Reproductive sciences (Thousand Oaks, Calif.)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[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 SinicaeEvaluating complete androgen insensitivity syndrome with a multimodal sonography system.
Quantitative imaging in medicine and surgeryMetabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome.
EndocrineWhole 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 gynecologySexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function.
The journal of sexual medicineComplete 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 sciencesAge 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.
AndrologiaClinical, 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 differentiationComplete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaOne 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 diseasesCase Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome.
Frontiers in endocrinologyA novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.
Human genome variationThe radiologist's role in assessing differences of sex development.
Pediatric radiologyPhysical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development.
Journal of the Endocrine SocietyGeneration 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 researchDisorders of sex development and female reproductive capacity: A literature review.
Systems biology in reproductive medicineTestosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
Endocrinology, diabetes & metabolism case reportsDilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome.
BMJ case reports18-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 EndocrinologyComplete 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 EndocrinologyComplete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report.
Journal of medical case reportsComplete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.
Annals of pediatric endocrinology & metabolismUsing molecular genetics in complete androgen insensitivity syndrome: toward a more personalized medicine approach.
Fertility and sterilityComplete androgen insensitivity syndrome with intra-abdominal seminoma in a phenotypic female: A rare presentation.
Journal of cancer research and therapeuticsIndividualized 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 urologyLaparoscopic 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 differentiationClinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
Fertility and sterilityComplete Androgen Insensitivity Syndrome: From Bench to Bed.
International journal of molecular sciencesMolecular basis of androgen insensitivity syndromes.
Molecular and cellular endocrinologyParticipant- and Clinician-Reported Long-Term Outcomes After Surgery in Individuals with Complete Androgen Insensitivity Syndrome.
Journal of pediatric and adolescent gynecologyGender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
Journal of pediatric urologyComplete androgen insensitivity syndrome (CAIS) and eating disorders: a case report.
Eating and weight disorders : EWDThird gender - the clinical image of Morris syndrome.
Endokrynologia PolskaBilateral 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 reportsThe 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)Molecular mechanisms underlying AMH elevation in hyperoestrogenic states in males.
Scientific reportsRisk of gonadal neoplasia in patients with disorders/differences of sex development.
Cancer epidemiologyTwo cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS).
Journal of pediatric surgery case reportsGender Dysphoria: A Review Investigating the Relationship Between Genetic Influences and Brain Development.
Adolescent health, medicine and therapeuticsUltrasonography for inguinal hernia led to the diagnosis of complete androgen insensitivity syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyCongenital uterovaginal abnormalities, it's embryogenesis, surgical management and clinical implications.
Obstetrics & gynecology scienceComputational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases.
Scientific reportsBreast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
The Journal of clinical endocrinology and metabolismAndrogen Insensitivity Syndrome: A rare genetic disorder.
International journal of surgery case reportsDisorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.
Journal of endocrinological investigationClinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
Reproductive biology and endocrinology : RB&EA young girl with right ovarian torsion and left ovarian ectopy.
Italian journal of pediatrics17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.
Journal of endocrinological investigationMental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.
Journal of health psychologyConservative Management of Vaginal Hypoplasia.
Journal of clinical research in pediatric endocrinologyComplete Androgen Insensitivity Syndrome: Dilemmas for Further Management after Gonadectomy.
Journal of human reproductive sciencesConcurrent 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[Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender].
Ugeskrift for laegerInduced Lactation in a Mother Through Surrogacy With Complete Androgen Insensitivity Syndrome (CAIS).
Journal of human lactation : official journal of International Lactation Consultant AssociationDisorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley.
Indian journal of endocrinology and metabolismThe XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome.
Comprehensive child and adolescent nursingNovel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.
International journal of molecular sciencesA shared decision-making tool for individuals living with complete androgen insensitivity syndrome.
Seminars in pediatric surgeryBone 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 endocrinologyMalignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report.
JNMA; journal of the Nepal Medical AssociationDiagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.
Journal of medical case reportsFeatures 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 biologyInitial assessment of a child with suspected disorder of sex development.
JPMA. The Journal of the Pakistan Medical AssociationGenetic 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 ResearchDifferent Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS).
International journal of environmental research and public healthA 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 GynaecologyComplete Androgen Insensitivity Syndrome: Successful Laparoscopic Management.
Journal of obstetrics and gynaecology of India[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 geneticsSex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region.
Journal of pediatric endocrinology & metabolism : JPEMLaparoscopic Bilateral Gonadectomy and Inguinal Hernia Repair with Mesh for Complete Androgen Insensitivity Syndrome: A Case Report.
Journal of pediatric and adolescent gynecologyGonadoblastoma 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)Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics.
SteroidsNovel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism.
Frontiers in endocrinologyTwo Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.
Annals of pediatric endocrinology & metabolismThe Sexual Differentiation of the Human Brain: Role of Sex Hormones Versus Sex Chromosomes.
Current topics in behavioral neurosciencesSexual Experience before Treatment for Vaginal Agenesis: A Retrospective Review of 137 Women.
Journal of pediatric and adolescent gynecologyUterus 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 reproductionIntegrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Endocrine connectionsNew mutation causing androgen insensitivity syndrome - a case report and review of literature.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyLate 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, CzechoslovakiaLiving 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 internationalManagement of Gonads in Adults with Androgen Insensitivity: An International Survey.
Hormone research in paediatricsComplete 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 differentiationChildhood 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 behaviorComplete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report.
MedicineOestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.
The lancet. Diabetes & endocrinologyFunctional 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 differentiationA challenging case of primary amenorrhoea.
BMJ case reportsSex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development.
The Journal of clinical endocrinology and metabolismCognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.
PsychoneuroendocrinologyComplete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene.
SteroidsIdentification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome.
Clinical geneticsPrenatal testosterone and theory of mind development: Findings from disorders of sex development.
PsychoneuroendocrinologyAberrant breast tissue in complete androgen insensitivity syndrome.
Clinical and experimental dermatologyMental 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 behaviorPrenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome.
Fetal and pediatric pathologyMismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.
Endocrine journalClinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.
Journal of geneticsIncreased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.
Journal of psychosomatic researchA rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome.
Asian journal of andrologyRefractory diversion neovaginitis in a sigmoid-colon-derived neovagina: clinical and histopathological considerations.
Frontline gastroenterology[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 sciencesFemale with 46, XY karyotype.
Obstetrics & gynecology scienceA recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
The Journal of steroid biochemistry and molecular biology[The Wish for a Child in the Case of (Permanent) Infertility: Development of the "German Questionnaire on Attitudes Toward Motherhood"].
Psychotherapie, Psychosomatik, medizinische PsychologieGonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationUpdate 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 differentiationBone 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 differentiationComplete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy.
Gynecology and minimally invasive therapyAR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
Science China. Life sciencesHormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic.
Endocrine connectionsIs the Second to Fourth Digit Ratio (2D:4D) a Biomarker of Sex-Steroids Activity?
Pediatric endocrinology reviews : PERGonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationBone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.
Clinical endocrinologyFemale phenotype with male karyotype: a clinical enigma.
BMJ case reportsHeterozygous 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 differentiationAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Insensibilidade aos androgênios completa.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Insensibilidade aos androgênios completa
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- 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.
- Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
- 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
- Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
- Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.
- Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99429(Orphanet)
- MONDO:0021023(MONDO)
- GARD:10597(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
