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Article

Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction.

Archives of disease in childhood - 1 Apr 2014

Lek Ngee, Miles Harriet, Bunch Trevor, Pilfold-Wilkie Vickie, Tadokoro-Cuccaro Rieko, Davies John, Ong Ken K, Hughes Ieuan A

Abstract excerpt

OBJECTIVE: The diagnosis of partial androgen insensitivity syndrome (PAIS) should be reserved for infants with a pathogenic androgen receptor gene (AR) mutation. However, only about 20% of infants with a clinical phenotype akin to PAIS have an AR mutation. We aimed to identify clinical features associated with the presence of an AR mutation. METHODS: The external masculinisation score (EMS; normal=12), birth...

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PMID: 24366239
DOI: 10.1136/archdischild-2013-305338

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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