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Article

Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome.

Bioscience reports - 29 May 2020

Cheng Yiping, Sun Yan, Ji Yiming, Jiang Dongqing, Teng Guoxin, Zhou Xiaoming, Zhou Xinli, Li Guimei, Xu Chao

Abstract excerpt

Androgen insensitivity syndrome (AIS; OMIM 300068) is the most frequent cause of 46, XY disorders of sex development (DSD). However, the correlation between genotype and phenotype has not been determined. We conducted a systematic analysis of the clinical characteristics, hormone levels, ultrasonography data and histopathology of a 46, XY Chinese patient with AIS. The family was followed up for nearly 8 years. We...

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Identifiers

PMID: 32338288
DOI: 10.1042/BSR20200616
PMCID: PMC7953519

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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