ReviewJournal of endocrinological investigation2023
Androgen insensitivity syndrome: a review.
Review in Journal of endocrinological investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Network meta-analysis of different preoperative hormone therapies for improving postoperative complications in pediatric hypospadias.Frontiers in endocrinology · 2026Pooled it
- Androgen insensitivity syndrome: A case report.Medicine · 2026Article
- A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series.Clinical case reports · 2026Article
- Androgen signaling is dispensable for fetal testis formation: decoupling testis organogenesis from fetal masculinization programming.Molecular human reproduction · 2026Review
- Central precocious puberty in partial androgen insensitivity syndrome: a 9-year follow-up.JCEM case reports · 2026Article
- A Familial X-Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice-Site Variant.Animal genetics · 2026Article
- Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.Asian journal of andrology · 2026Article
- Adrenarche as a regulator of sensitivity to early adversity.Journal of neuroendocrinology · 2026Review
- Integrative Transcriptomic Analysis and Preliminary Peripheral Blood Evaluation IdentifyInternational journal of general medicine · 2026Article
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.World journal of diabetes · 2025Review
- Erectile dysfunction among the young male population: A cross-sectional study.The Journal of international medical research · 2025Article
- Psychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.The Journal of clinical endocrinology and metabolism · 2025Article
- A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.Current issues in molecular biology · 2025Article
- Luteinizing Hormone Regulates Testosterone Production, Leydig Cell Proliferation, Differentiation, and Circadian Rhythm During Spermatogenesis.International journal of molecular sciences · 2025Review
- Attitudes toward uterus transplantation. An option for motherhood?Acta obstetricia et gynecologica Scandinavica · 2025Article
- Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report.Frontiers in pediatrics · 2025Article
- Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.Frontiers in endocrinology · 2025Review
- Sertoli cells as a hub in testicular development and male reproductive.Frontiers in cell and developmental biology · 2025Review
- An XY Female.European journal of case reports in internal medicine · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeAndrogen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes.
methodsWe performed a literature review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
resultsAIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). Laboratory tests showing elevated LH and testosterone levels despite mild or absent virilization may be helpful, but diagnosis can be achieved only after genetic testing (karyotype examination and androgen receptor sequencing). The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management.
conclusionsFor the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.
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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.