{ "schemaVersion": 2, "eyebrow": "Pediatric Endocrinology", "title": "Androgen Insensitivity Syndrome", "summary": "Diagnose androgen insensitivity syndrome by confirming a 46,XY DSD, excluding impaired testosterone synthesis, and identifying androgen receptor dysfunction. Management requires phenotype-specific counseling, coordinated DSD expertise, individualized gonadal decision-making, hormone planning, and lifelong attention to bone, sexual, reproductive, and psychosocial health.", "seoDescription": "Clinical diagnosis and management of complete, partial, and mild androgen insensitivity syndrome in 46,XY differences of sex development.", "clinicalQuestion": "How should physicians confirm androgen insensitivity syndrome and tailor longitudinal management across complete, partial, and mild phenotypes?", "specialty": "Pediatric endocrinology", "audience": "U.S. physicians and medical trainees", "tags": [ "androgen insensitivity syndrome", "complete androgen insensitivity syndrome", "partial androgen insensitivity syndrome", "46,XY DSD", "AR gene", "gonadectomy" ], "keyTakeaways": [ "Suspect AIS in a 46,XY individual with undermasculinization, then establish the phenotype with examination, hormone assessment, exclusion of testosterone-synthesis defects, and AR-focused molecular testing. [11][13][16]", "CAIS commonly presents with a typical female phenotype, primary amenorrhea, or inguinal gonads; PAIS commonly presents with variable genital atypia at birth and may later cause gynecomastia or fertility concerns. [1][6][14]", "An AR pathogenic variant supports AIS, but a negative molecular result does not exclude PAIS; androgen-binding studies on genital skin biopsy can be considered when the phenotype remains convincing. [13]", "Gonadal management, pubertal hormone planning, genital procedures, fertility counseling, and psychosocial support should be individualized through an experienced multidisciplinary DSD team. [4][5][13][21]", "After gonadectomy, plan sex-steroid replacement and monitor bone health; patients with retained gonads also require longitudinal surveillance and shared decision-making about the timing of surgery. [5][8][13][22]" ], "sections": [ { "id": "clinical-entry-points", "eyebrow": "Recognition", "heading": "Identify the presentation that warrants an AIS workup", "intro": "The phenotype directs the initial DSD pathway and urgency of exclusionary testing.", "paragraphs": [ "Enter an AIS diagnostic pathway for a newborn with 46,XY undermasculinization or genital atypia, an adolescent with primary amenorrhea and absent or limited Müllerian structures, or an adult with gynecomastia, infertility, or otherwise unexplained androgen resistance. AIS spans complete, partial, and mild phenotypes according to residual androgen receptor activity. [1][11][13][14]", "In a phenotypic female with primary amenorrhea, an inguinal mass should prompt pelvic and inguinal imaging to identify testes and assess for Müllerian structures while obtaining chromosome analysis. CAIS is characterized by a typical female phenotype in an individual with XY chromosomes; primary amenorrhea and inguinal swelling are high-yield clinical prompts. [1][14]", "In a newborn with ambiguous genitalia, do not label PAIS from appearance alone. Parallel evaluation must exclude alternative 46,XY DSD mechanisms, particularly defects in testosterone synthesis, before attributing undermasculinization to androgen resistance. [11][13][17]" ], "bullets": [ "CAIS pattern: typical female external phenotype, XY karyotype, absent uterus, and undescended testes. [1][11][14]", "PAIS pattern: variable undervirilization, including hypospadias, chordee, small phallus, bifid scrotum, or cryptorchidism; later gynecomastia is a relevant pubertal clue. [6][12][14]", "MAIS pattern: predominantly male external phenotype with gynecomastia, infertility, or both, often recognized during puberty or adulthood. [11][14]" ], "subsections": [], "table": { "caption": "Phenotypic patterns that guide the initial AIS differential and next test. [11][13][14]", "columns": [ "Clinical setting", "Pattern supporting AIS", "Immediate diagnostic next step" ], "rows": [ [ "Newborn with genital atypia", "46,XY undermasculinization with hypospadias, chordee, small phallus, bifid scrotum, or undescended testes suggests PAIS but is not specific. [6][11][12]", "Obtain chromosome analysis, hormone evaluation, and targeted assessment for impaired testosterone synthesis; proceed to AR testing when androgen resistance remains likely. [11][13][16]" ], [ "Adolescent with primary amenorrhea", "Typical female phenotype with XY chromosomes and absent Müllerian structures is compatible with CAIS. [1][11][14]", "Image pelvis and inguinal canals for gonads; obtain chromosome analysis, hormone testing, and AR molecular testing. [11][13][19]" ], [ "Male adult with infertility or gynecomastia", "Mild androgen resistance can present with gynecomastia, infertility, or both despite a predominantly male phenotype. [11][14]", "Assess androgen status and semen-related reproductive concerns, exclude other endocrine causes, and obtain AR-focused molecular evaluation when clinical findings support MAIS. [11][13]" ] ] } }, { "id": "confirm-diagnosis", "eyebrow": "Diagnostic confirmation", "heading": "Confirm androgen resistance and exclude competing 46,XY DSD diagnoses", "intro": "AIS is an integrated clinical, biochemical, cytogenetic, and molecular diagnosis.", "paragraphs": [ "Confirm a 46,XY karyotype, document external genital phenotype and gonadal location, obtain hormone testing appropriate to age and pubertal stage, and exclude testosterone-synthesis defects. The diagnosis of CAIS or PAIS rests on this combined assessment rather than any single hormone result or genital finding. [11][13]", "Order molecular testing of the X-linked AR gene when CAIS or PAIS is suspected. AR pathogenic variants cause impaired androgen receptor function and support the diagnosis; testing is specifically recommended in suspected complete or partial androgen insensitivity. [11][16][20]", "Interpret an identified AR variant in the context of phenotype because androgen receptor function and clinical expression vary substantially, particularly in PAIS. If AR sequencing does not identify an explanatory variant but clinical and biochemical findings continue to favor PAIS, consider a genital-skin biopsy for androgen-binding studies at a specialized center. [2][13]", "Use imaging to establish the presence and location of gonads and to assess internal reproductive anatomy. Imaging informs counseling about gonad retention or removal and operative planning, but does not replace molecular and endocrine characterization. [13][15][22]" ], "bullets": [ "Document family history consistent with X-linked inheritance, but do not exclude AIS when there is no family history because de novo AR variants occur. [7][20]", "For PAIS with congenital urogenital anomalies, define anatomy before reconstructive decisions; repeated hypospadias repairs can be followed by recurrent infections and other longitudinal complications. [12]", "Avoid assuming that all 46,XY DSD with absent Müllerian structures is AIS; impaired testosterone synthesis must be excluded before confirming androgen resistance. [11][13]" ], "subsections": [ { "heading": "When to involve specialized DSD expertise", "paragraphs": [ "Refer at diagnosis to a multidisciplinary DSD team that can include endocrinology, urology, gynecology, clinical genetics, psychology, and psychiatry. This is especially important before irreversible genital or gonadal procedures, when phenotype and genotype conflict, or when fertility and gender-related counseling are needed. [13][21]" ], "bullets": [] } ], "table": { "caption": "Core diagnostic components for suspected AIS. [11][13][16]", "columns": [ "Component", "What it establishes", "Decision consequence" ], "rows": [ [ "Chromosome analysis", "Confirms a 46,XY DSD framework in suspected AIS. [11][13]", "Moves evaluation toward androgen action and steroidogenic pathways rather than isolated Müllerian anomalies. [11][13]" ], [ "Age-appropriate hormone evaluation", "Assesses androgen production and supports exclusion of testosterone-synthesis defects. [11][13]", "A defect in testosterone synthesis redirects diagnosis away from primary androgen receptor resistance. [11][13]" ], [ "AR molecular testing", "Identifies a pathogenic AR variant that supports CAIS, PAIS, or MAIS. [11][16][20]", "Enables diagnostic clarification and genetic counseling. [13][20]" ], [ "Pelvic and gonadal imaging", "Defines gonadal location and internal reproductive anatomy. [13][15]", "Supports counseling and procedural planning for retained or removed gonads. [13][22]" ], [ "Genital-skin androgen-binding assay", "May demonstrate defective androgen binding when molecular testing is nondiagnostic in a convincing PAIS phenotype. [13]", "Reserve for specialized evaluation after inconclusive AR molecular testing. [13]" ] ] } }, { "id": "phenotype-directed-management", "eyebrow": "Management", "heading": "Match management to complete, partial, or mild androgen insensitivity", "intro": "Treatment decisions should follow anatomy, developmental stage, patient goals, and anticipated androgen responsiveness.", "paragraphs": [ "For CAIS, counsel about gonadal management, anticipated spontaneous pubertal feminization from aromatization of testicular androgens, sexual function, vaginal length concerns when present, and the consequences of gonadectomy for lifelong sex-steroid replacement. Bilateral gonadectomy has historically been used to reduce later gonadal tumor risk, but timing should be individualized rather than treated as automatic at diagnosis. [4][5][13][22]", "For PAIS, management must not be extrapolated from CAIS. The range of genital development, pubertal virilization, gynecomastia, gonadal position, urogenital anatomy, gender-related goals, and potential androgen responsiveness should determine whether observation, endocrine treatment planning, gonadal surgery, or genital reconstruction is considered. [2][8][12][13]", "For MAIS, focus on the presenting complication—gynecomastia, infertility, or both—and assess for hypogonadism and treatment adherence where testosterone replacement is used. Men with 46,XY DSD who have irregular testosterone replacement or androgen insensitivity warrant cardiometabolic monitoring. [8][11][14]", "Do not pursue genital surgery solely because a diagnosis is established. In PAIS, define anatomy, expected function, and patient or family goals in an experienced DSD setting; repeated hypospadias repairs can create long-term infection and surgical morbidity. [12][13][21]" ], "bullets": [ "CAIS: discuss retention versus removal of testes, operative implications of intra-abdominal or inguinal gonads, and post-gonadectomy hormone replacement before scheduling surgery. [4][5][13][22]", "PAIS: reassess at puberty for breast development, growth, virilization, gynecomastia-related distress, and genital or urinary complications. [2][12][13]", "MAIS: evaluate fertility-related concerns and gynecomastia in addition to endocrine status; adult recognition is common. [11][14]" ], "subsections": [ { "heading": "Gonadal decisions", "paragraphs": [ "Discuss gonadectomy as a risk-benefit decision incorporating gonadal location, tumor concern, pubertal hormone production, need for replacement therapy after removal, and the individual's preferences. Contemporary DSD care emphasizes shared decision-making and longitudinal reassessment rather than a uniform surgical timetable. [4][5][13][21]" ], "bullets": [ "If gonads are retained, maintain follow-up through a DSD team and revisit symptoms, imaging findings, and the patient's preferences over time. [5][13]", "If gonadectomy is performed, transition promptly to an individualized sex-steroid replacement plan and bone-health monitoring. [13][22]" ] } ], "table": { "caption": "Phenotype-directed management priorities in AIS. [8][12][13][22]", "columns": [ "Phenotype", "Primary management problem", "Practical next action" ], "rows": [ [ "CAIS", "Timing of gonadal removal versus retention, followed by hormone replacement needs if gonads are removed. [4][5][13]", "Conduct shared counseling with endocrinology, gynecology or urology, genetics, and psychosocial support; document a follow-up plan whether gonads are retained or removed. [13][21][22]" ], [ "PAIS", "Variable genital anatomy, pubertal response, gynecomastia, gonadal position, and potential fertility concerns. [2][12][13]", "Individualize endocrine, urologic, and psychosocial planning; reassess developmental goals and complications at puberty. [8][12][13]" ], [ "MAIS", "Gynecomastia, infertility, and possible hypogonadism-related care in a male phenotype. [8][11][14]", "Evaluate endocrine and reproductive concerns, then monitor cardiometabolic health when hypogonadism or testosterone-replacement issues are present. [8]" ] ] } }, { "id": "longitudinal-care", "eyebrow": "Follow-up", "heading": "Monitor endocrine, skeletal, reproductive, and psychosocial consequences over time", "intro": "AIS requires planned transition from pediatric to adult DSD care rather than episodic treatment.", "paragraphs": [ "At each developmental transition, review pubertal progression, gonadal status, sex-steroid exposure, gynecomastia or virilization concerns, genital or urinary symptoms, sexual function, fertility goals, and mental health. Long-term follow-up is particularly important in PAIS because clinical issues can emerge from infancy through adulthood. [12][13]", "After gonadectomy, monitor adequacy of hormone replacement and skeletal health because loss of endogenous testicular hormone production changes long-term bone risk. Bone mineral density has been specifically studied in CAIS in relation to intact testes, gonadectomy timing, and hormone replacement. [5][9][13]", "Offer genetic counseling to affected individuals and families because AIS is an X-linked condition caused by AR variants. Molecular confirmation improves counseling regarding inheritance and enables targeted testing options in relatives when appropriate. [13][20][24]", "Integrate psychology or psychiatry into care when distress, gender-related concerns, sexual-function concerns, stigma, or treatment decision conflict is present. DSD consensus guidance identifies psychosocial support and peer or parent support as important components of longitudinal care. [13][21]" ], "bullets": [ "After gonadectomy: confirm an individualized sex-steroid replacement plan and arrange skeletal follow-up. [9][13][22]", "During PAIS follow-up: monitor secondary sexual characteristics, growth, breast development, urogenital symptoms, and the effects of prior genital procedures. [12]", "In adults with androgen insensitivity or irregular testosterone replacement: include cardiometabolic health in surveillance. [8]", "Before transfer to adult care: provide a written diagnosis, genotype when known, gonadal history, operative reports, hormone plan, and named adult DSD clinicians. [13][21]" ], "subsections": [], "table": { "caption": "Longitudinal review domains in AIS. [5][8][9][12][13]", "columns": [ "Follow-up domain", "Who needs it", "Actionable review" ], "rows": [ [ "Pubertal and hormone assessment", "All phenotypes, especially PAIS and patients after gonadectomy. [12][13]", "Review pubertal progression and adequacy or adherence of prescribed sex-steroid therapy. [8][13]" ], [ "Bone health", "CAIS after gonadectomy and patients receiving hormone replacement. [5][9][13]", "Assess skeletal health in relation to gonadal status and hormone replacement. [5][9]" ], [ "Gonadal status", "Patients with retained testes or prior gonadal surgery. [4][5][13]", "Revisit tumor-risk counseling, symptoms, imaging context, and preferences regarding continued retention or surgery. [4][5][13]" ], [ "Urogenital and sexual health", "Primarily PAIS with congenital urogenital anomalies or prior reconstruction; CAIS with vaginal concerns. [12][22]", "Assess recurrent infections, surgical sequelae, sexual-function concerns, and need for gynecologic or urologic intervention. [12][22]" ], [ "Psychosocial care", "All patients and families. [13][21]", "Screen for distress and connect the patient with experienced mental-health and peer-support resources. [13][21]" ] ] } } ], "faq": [], "references": [ { "number": 1, "title": "Androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60071-3/fulltext", "authors": "www.thelancet.com", "host": "www.thelancet.com" }, { "number": 2, "title": "Use of clinical and functional androgen receptor indices", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/article/S2352-3964(18)30406-7/fulltext", "authors": "www.thelancet.com", "host": "www.thelancet.com" }, { "number": 3, "title": "Predicting puberty in partial androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/article/S2352-3964(18)30406-7/pdf", "authors": "www.thelancet.com", "host": "www.thelancet.com" }, { "number": 4, "title": "Supplemental Materials for Androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60071-3/supplemental", "authors": "www.thelancet.com", "host": "www.thelancet.com" }, { "number": 5, "title": "Caring for individuals with a difference of sex development (DSD): a Consensus Statement | Nature Reviews Endocrinology", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41574-018-0010-8", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 6, "title": "A Gender Assessment Team: experience with 250 patients over a period of 25 years | Genetics in Medicine", "detail": "www.nature.com", "url": "https://www.nature.com/articles/gim200758", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 7, "title": "A novel de novo androgen receptor nonsense mutation in ...", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41439-021-00167-5", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 8, "title": "Management of 46,XY Differences/Disorders of Sex ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/edrv/article/40/6/1547/5540927", "authors": "academic.oup.com", "host": "academic.oup.com" }, { "number": 9, "title": "Bone density and skeletal turnover in complete androgen ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/jes/article-pdf/10/8/bvag136/68584302/bvag136.pdf", "authors": "academic.oup.com", "host": "academic.oup.com" }, { "number": 10, "title": "Analysis of genetic and clinical characteristics of androgen ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/ejendo/article/191/1/87/7700821", "authors": "academic.oup.com", "host": "academic.oup.com" }, { "number": 11, "title": "Androgen Insensitivity Syndrome - 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NCBI - NIH", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/gtr/all/tests?term=300068%5Bmim%5D", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov" }, { "number": 21, "title": "Consensus statement on management of intersex disorders - PMC", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC2082839", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov" }, { "number": 22, "title": "Disorders of Sexual Development in Adult Women - PMC - NIH", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC5119649", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov" }, { "number": 23, "title": "Complete Androgen Insensitivity Syndrome - PMC - NIH", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC8624150", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov" }, { "number": 24, "title": "Clinical outcomes and genotype-phenotype correlations in ...", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC10556439", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov" } ], "editorialNote": "Prepared from cited clinical literature using Astra's research workflow. Verify recommendations against current guidance and patient-specific factors.", "citations": [ { "number": 1, "title": "Androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60071-3/fulltext", "authors": "www.thelancet.com", "host": "www.thelancet.com", "snippet": "by IA Hughes · 2012 · Cited by 831 — Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY", "score": 0.5973971 }, { "number": 2, "title": "Use of clinical and functional androgen receptor indices", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/article/S2352-3964(18)30406-7/fulltext", "authors": "www.thelancet.com", "host": "www.thelancet.com", "snippet": "by N Lek · 2018 · Cited by 24 — Androgen insensitivity syndrome (AIS) is the most common cause of undermasculinisation in XY males with a disorder of sex development (DSD)", "score": 0.5402697 }, { "number": 3, "title": "Predicting puberty in partial androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/article/S2352-3964(18)30406-7/pdf", "authors": "www.thelancet.com", "host": "www.thelancet.com", "snippet": "by N Lek · 2018 · Cited by 24 — Androgen insensitivity syndrome (AIS) is the most common cause of undermasculinisation in XY males with a disorder of sex development (DSD)", "score": 0.53502613 }, { "number": 4, "title": "Supplemental Materials for Androgen insensitivity syndrome", "detail": "www.thelancet.com", "url": "https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60071-3/supplemental", "authors": "www.thelancet.com", "host": "www.thelancet.com", "snippet": "by IA Hughes · 2012 · Cited by 831 — Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life,", "score": 0.71496695 }, { "number": 5, "title": "Caring for individuals with a difference of sex development (DSD): a Consensus Statement | Nature Reviews Endocrinology", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41574-018-0010-8", "authors": "www.nature.com", "host": "www.nature.com", "snippet": "Article \n CAS \n PubMed \n Google Scholar\n78. Looijenga, L. H. et al. Gonadal tumours and DSD. Best Pract. Res. Clin. Endocrinol. Metab. 24, 291–310 (2010).\n\n Article \n PubMed \n Google Scholar\n79. Ezaki, J. et al. Gonadal tumor in Frasier syndrome: a review and classification. Cancer", "score": 0.56258565 }, { "number": 6, "title": "A Gender Assessment Team: experience with 250 patients over a period of 25 years | Genetics in Medicine", "detail": "www.nature.com", "url": "https://www.nature.com/articles/gim200758", "authors": "www.nature.com", "host": "www.nature.com", "snippet": ". Accessed November 22, 2004.\") Most pediatricians are familiar with 21-OHD, as affected female infants are virilized at birth, the majority have salt-wasting with hyponatremia and hyperkalemia, and they may present in adrenal crisis.2 We routinely test for the common mutations in the CYP21A2 gene i", "score": 0.41534993 }, { "number": 7, "title": "A novel de novo androgen receptor nonsense mutation in ...", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41439-021-00167-5", "authors": "www.nature.com", "host": "www.nature.com", "snippet": "by KS Poon · 2021 · Cited by 4 — This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).", "score": 0.3070052 }, { "number": 8, "title": "Management of 46,XY Differences/Disorders of Sex ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/edrv/article/40/6/1547/5540927", "authors": "academic.oup.com", "host": "academic.oup.com", "snippet": "by AB Wisniewski · 2019 · Cited by 198 — As men with 46,XY DSD may experience hypogonadism due to irregular T replacement or androgen insensitivity, careful monitoring of cardiometabolic health is", "score": 0.3977518 }, { "number": 9, "title": "Bone density and skeletal turnover in complete androgen ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/jes/article-pdf/10/8/bvag136/68584302/bvag136.pdf", "authors": "academic.oup.com", "host": "academic.oup.com", "snippet": "by M Jovanovic · 2026 — Changes in bone min- eral density after orchidectomy and hormone replacement therapy in individuals with androgen insensitivity syndrome.", "score": 0.36874714 }, { "number": 10, "title": "Analysis of genetic and clinical characteristics of androgen ...", "detail": "academic.oup.com", "url": "https://academic.oup.com/ejendo/article/191/1/87/7700821", "authors": "academic.oup.com", "host": "academic.oup.com", "snippet": "by Z Yuan · 2024 · Cited by 7 — Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46,XY disorders caused by", "score": 0.2834024 }, { "number": 11, "title": "Androgen Insensitivity Syndrome - StatPearls - NCBI Bookshelf", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/books/NBK542206", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "Androgen insensitivity syndrome is a difference in sex development caused by impaired androgen receptor function in individuals with a 46, XY karyotype. Clinical presentation ranges from complete androgen insensitivity syndrome with a typical female phenotype to partial androgen insensitivity syndro", "score": 0.72489023 }, { "number": 12, "title": "Central precocious puberty in partial androgen insensitivity syndrome: a 9-year follow-up", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13171438", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "In summary, most patients with DSD present either in the neonatal period with ambiguous genitalia or later at puberty with delayed or abnormal development, with few distinguishable features during childhood. For individuals with PAIS, clinical challenges vary across life stages: ambiguous genitalia ", "score": 0.68318754 }, { "number": 13, "title": "Androgen Insensitivity Syndrome - GeneReviews - NCBI - NIH", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/books/NBK1429", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "## Management\n\n### Evaluations Following Initial Diagnosis\n\nTo establish the extent of disease and the needs of an individual diagnosed with androgen insensitivity syndrome, a complete evaluation by specialists in disorders of sex development (DSDs), which can include specialists in endocrinology, u", "score": 0.6803909 }, { "number": 14, "title": "The challenges of androgen insensitivity syndrome - PMC", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC9266792", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "characteristics are consistent with the degree of androgen receptor sensitivity to the androgen stimulation . Complete, partial, and mild androgen insensitivity syndromes fall into the generic category of 46XY disorder of sex development. [...] In conclusion, androgen insensitivity syndrome is a fre", "score": 0.6533265 }, { "number": 15, "title": "Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC12558735", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "(13). As in the diagnosis of other DSD, a targeted and structured approach is suggested in prompt and precise evaluation of CAIS, including clinical, laboratory, imaging, genetic assessment, and sometimes gonadal biopsy (58). [...] clinical manifestations, increased risk of gonadal malignancy, and i", "score": 0.6211049 }, { "number": 16, "title": "Consensus in Guidelines for Evaluation of DSD by the Texas ...", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC2963131", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "by G Douglas · 2010 · Cited by 73 — We recommend screening the androgen receptor gene for mutations, in cases of suspected complete or partial androgen insensitivity.", "score": 0.6194488 }, { "number": 17, "title": "The Newborn With a Suspected Difference of Sex ...", "detail": "publications.aap.org", "url": "https://publications.aap.org/neoreviews/article/27/4/e222/207031/The-Newborn-With-a-Suspected-Difference-of-Sex", "authors": "publications.aap.org", "host": "publications.aap.org", "snippet": "Androgen insensitivity syndrome (AIS) is the most common cause of XY DSD.1–3 AIS is caused by pathogenic variants in the X-linked AR gene,", "score": 0.50886196 }, { "number": 18, "title": "107: Disorders of Sexual Differentiation", "detail": "publications.aap.org", "url": "https://publications.aap.org/aapbooks/book/672/chapter/8116527/Disorders-of-Sexual-Differentiation", "authors": "publications.aap.org", "host": "publications.aap.org", "snippet": "Androgen insensitivity, the most common cause of this disorder, is the result of an abnormality or a reduction in the number of androgen receptors. Not all", "score": 0.459586 }, { "number": 19, "title": "Complete Androgen Insensitivity Syndrome", "detail": "pubmed.ncbi.nlm.nih.gov", "url": "https://pubmed.ncbi.nlm.nih.gov/34833359", "authors": "pubmed.ncbi.nlm.nih.gov", "host": "pubmed.ncbi.nlm.nih.gov", "snippet": "by F Barbagallo · 2021 · Cited by 13 — The case herein reported underlines the importance of an accurate genetic analysis that has to include karyotype and AR gene variant analysis.", "score": 0.61279696 }, { "number": 20, "title": "Genetic Testing Registry (GTR) - NCBI - NIH", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/gtr/all/tests?term=300068%5Bmim%5D", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "Androgen insensitivity, 300068, X-linked recessive; AIS (Complete androgen insensitivity syndrome) (AR gene) (Sequence Analysis-All Coding Exons) (Prenatal).", "score": 0.5634506 }, { "number": 21, "title": "Consensus statement on management of intersex disorders - PMC", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC2082839", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "## Abbreviations\n\nCAH - congenital adrenal hyperplasia\n\nCAIS - complete androgen insensitivity syndrome\n\nDSD - disorders of sex development\n\nESPE - European Society for Paediatric Endocrinology\n\nLWPES - Lawson Wilkins Pediatric Endocrine Society\n\nMGD - mixed gonadal dysgenesis\n\nPAIS - partial androg", "score": 0.5954225 }, { "number": 22, "title": "Disorders of Sexual Development in Adult Women - PMC - NIH", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC5119649", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "by V Gomez-Lobo · 2016 · Cited by 40 — Women with androgen insensitivity syndrome require counseling regarding gonadectomy and hormone replacement therapy, and may require vaginal elongation for", "score": 0.39817297 }, { "number": 23, "title": "Complete Androgen Insensitivity Syndrome - PMC - NIH", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC8624150", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "by F Barbagallo · 2021 · Cited by 13 — The case herein reported underlines the importance of an accurate genetic analysis that has to include karyotype and AR gene variant analysis.", "score": 0.6010557 }, { "number": 24, "title": "Clinical outcomes and genotype-phenotype correlations in ...", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC10556439", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "by N Lee · 2023 · Cited by 4 — Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene.", "score": 0.5521781 } ], "publishedAt": "2026-08-24T17:20:14.593835+00:00", "updatedAt": "2026-08-24T17:20:14.593835+00:00", "readingMinutes": 5, "slug": "androgen-insensitivity-syndrome" }