ReviewInternational journal of environmental research and public health2019
Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS).
Review in International journal of environmental research and public health, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.European journal of endocrinology · 2022Guideline
- Article
- MRI analysis of androgen insensitivity syndrome.BMC medical imaging · 2026Article
- Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal ManagementJournal of clinical research in pediatric endocrinology · 2026Article
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 2026Article
- Testosterone treatment for micropenis in partial androgen insensitivity syndrome.JCEM case reports · 2026Article
- Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation.Clinical case reports · 2026Article
- Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.Asian journal of andrology · 2026Article
- Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.Cancer reports (Hoboken, N.J.) · 2026Article
- Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.Case reports in genetics · 2026Article
- Case Report: Familial complete androgen insensitivity syndrome across four sisters from childhood to adulthood - a hemizygous AR p.Trp742Leu variant and a 14-year failure to initiate familial cascade evaluation.Frontiers in endocrinology · 2026Article
- X chromosome inactivation, X-linked disorders, and cancer.Frontiers in genetics · 2026Review
- Be alert to hypertension caused by 17α-hydroxylase deficiency: two case reports in young patients.Therapeutic advances in endocrinology and metabolism · 2026Article
- Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.Frontiers in pediatrics · 2026Article
- A case of bilateral oophorectomy in a 40-day-old female due to a misdiagnosis of complete androgen insensitivity syndrome.Annals of medicine and surgery (2012) · 2025Article
- A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.The Journal of international medical research · 2025Article
- Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.Journal of medical case reports · 2025Review
- Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.Frontiers in endocrinology · 2025Review
- Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review.The Journal of international medical research · 2024Review
- Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.