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Article

Clinical and genetic characteristics of patients with complete androgen insensitivity syndrome: an experience from a tertiary care centre of Kashmir Valley.

Endocrine - 3 Aug 2026

Misgar Raiz Ahmad, Ul Isam Mir Sajad, Masoodi Shariq Rashid, Qadir Ajaz, Bhat Imtiyaz Ahmad, Shah Zafar Amin, Bashir Mir Iftikhar, Wani Arshad Iqbal

Abstract excerpt

PURPOSE: Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked disorder caused by pathogenic variants in the androgen receptor (AR) gene, leading to resistance to androgens in individuals with a 46, XY karyotype. MATERIALS AND METHODS: This study aims to describe the clinical and genetic profile of CAIS patients from a tertiary care hospital in northern India. Thirteen consecutive patients with a...

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Source

Identifiers

PMID: 42545618
DOI: 10.1007/s12020-026-04725-1

Genes

AR
CYP11B1
CYP17A1
CYP21A2
HSD17B3
NR5A1
POR
SOX9
SRD5A2
WNT4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Clinical and genetic characteristics of patients with complete androgen insensitivity syndrome: an experience from a tertiary care centre of Kashmir Valley.PMID 42545618Read ↗

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