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Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Sept 2022

Wang Kai, Wang Qi, Chen Jing, Wang Yu, Ma Xue

Abstract excerpt

Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disorder caused by mutations in the androgen receptor (AR) gene. AIS can be divided into partial type (PAIS), mild type (MAIS), and complete type (CAIS) based on the degree of androgen insensitivity. CAIS is characterized by a male genotype and a complete female phenotype. A 10-year-old child presented with a bilateral inguinal mass for 9 years....

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PMID: 35437733
DOI: 10.1007/s43032-022-00944-9

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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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