ReviewArchives of endocrinology and metabolism
Androgen insensitivity syndrome: a review.
Review in Archives of endocrinology and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 176 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
- Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions.Journal of endocrinological investigation · 2026Article
- Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal ManagementJournal of clinical research in pediatric endocrinology · 2026Article
- Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.Orphanet journal of rare diseases · 2026Article
- Testosterone treatment for micropenis in partial androgen insensitivity syndrome.JCEM case reports · 2026Article
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 2026Article
- Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.Asian journal of andrology · 2026Article
- Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation.Clinical case reports · 2026Article
- A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome.BMC medical genomics · 2026Article
- Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.Radiology case reports · 2026Article
- Acromegaly and Morris Syndrome: Description of a Clinical CaseEndocrine, metabolic & immune disorders drug targets · 2026Article
- Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.Human mutation · 2026Article
- Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.Case reports in genetics · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- 46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.Endocrine journal · 2025Review
- How Many Angels Can Dance on the Head of a Pin?Archives of sexual behavior · 2025Article
- Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.Reports (MDPI) · 2025Article
- Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.Journal of endocrinological investigation · 2025Article
- Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
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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.