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Article

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2020

Jiang Xuanyu, Teng Yanling, Chen Xin, Liang Nana, Li Zhuo, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Androgen insensitivity syndrome (AIS) is the most common type of 46, XY disorders of sex development (DSD), with a wide range of clinical heterogeneity, from male infertility, hypospadias to completely normal female external genitalia. Mutation of the androgen receptor (AR) gene on the X chromosome (Xq11.2q12) is the main cause of AIS. METHODS: By phenotype evaluation, hormone test, ultrasound scan...

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Identifiers

PMID: 32229106
DOI: 10.1016/j.cca.2020.03.036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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