Authors
Julia Martinkova, Andrea Gregorova, Marketa Wayhelova, Jana Soukalova, Miroslava Balascakova, Anna Krepelova
Published in
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. Aug 25, 2026. Epub Aug 25, 2026.
Abstract
Complete androgen insensitivity syndrome (CAIS) is one of the most prevalent conditions of disorders/differences of sex development (DSD), with an X-linked recessive inheritance. A hemizygous pathogenic variant in the AR gene causes the condition.
We present a five-generation Czech family with several CAIS-positive relatives. The proband is a 27-year-old female patient with a 46,XY karyotype, who exhibits the typical CAIS phenotype. This includes female external genitalia, the absence of uterus, a blind-ending vagina, undescended testes, and almost missing axillary and pubic hair.
We identified a novel pathogenic, hemizygous NM_000044.4(AR):c.-66_220del p.? variant using Sanger DNA sequencing with specifically designed primers. This AR deletion was 286 bp in length and initiated in the 5'-UTR, terminating within the polymorphic CAG repeats in exon 1 of the AR gene. The AR variant removed the original initiation codon ATG, resulting in a shortened AR transcript with an unknown effect on the translation.
We describe a unique AR deletion identified in a 46,XY female patient with CAIS. The variant segregates in the large CAIS family; it was detected in five affected relatives, while the four remaining family members were asymptomatic carriers.
PMID:
42655957
Bibliographic data and abstract were imported from PubMed on 27 Aug 2026.
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