ArticleEBioMedicine2018
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.
Article in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 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
- 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
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- The hippo pathway: a molecular bridge between environmental cues and pace of life.BMC ecology and evolution · 2025Review
- Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.International journal of reproductive biomedicine · 2023Article
- Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.Molecular human reproduction · 2023Article
- Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study.Journal of personalized medicine · 2022Article
- The challenges of androgen insensitivity syndrome.Archives of medical science : AMS · 2022Article
- Two Compact Cas9 Ortholog-Based Cytosine Base Editors Expand the DNA Targeting Scope and ApplicationsFrontiers in cell and developmental biology · 2022Article
- [A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics].Problemy endokrinologii · 2021Article
- Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome.EBioMedicine · 2018Article
- Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply.EBioMedicine · 2018Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPAIS exhibits a complex spectrum of phenotypes and pubertal outcomes. The paucity of reliable prognostic indicators can confound management decisions including sex-of-rearing. We assessed whether external masculinisation score (EMS) at birth or functional assays correlates with pubertal outcome in PAIS patients and whether the EMS is helpful in sex assignment.
methodsWe collected pubertal outcome data for 27 male-assigned PAIS patients, all with confirmed androgen receptor (AR) mutations, including two previously uncharacterized variants (I899F; Y916C). Patients were grouped as follows; EMS at birth <5 and ≥ 5 (EMS in normal males is 12; median EMS in PAIS is 4·7) and pubertal outcomes compared.
findingsOnly 6/9 patients (67%) with EMS <5 underwent spontaneous onset of puberty, versus all 18 patients with EMS ≥5 (p = .03). Only 1/6 patients (17%) with EMS <5 developed adult genitalia reaching Tanner stage 4 or 5, versus 11/13 (85%) with EMS ≥5 (p = 0·01). There was no significant difference between the two groups of patients in being prescribed androgen replacement, who reached adult testicular volume ≥ 15 ml, pubic hair Tanner stage 4 or 5, above average adult height, had gynaecomastia, and mastectomy. No correlation was observed between EMS and in vitro AR function.
interpretationIn PAIS with AR mutation, birth EMS is a simple predictor of spontaneous pubertal onset and satisfactory adult genitalia. This provides useful information when discussing the likely options for management at puberty. FUND: European Commission Framework 7 Programme, NIHR Cambridge Biomedical Research Centre, BBSRC DTP.
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