Article

A novel variant in the 5’ UTR of the androgen receptor gene without coding region alterations in three patients with complete androgen insensitivity syndrome

2025-12-01

Abstract excerpt

<title>Abstract</title> <p> A syndrome-causing androgen receptor ( <italic>AR)</italic> gene variant is identified in > 95% of 46,XY individuals with a female phenotype due to complete androgen insensitivity syndrome (CAIS). Here, we describe three patients (two adults, 37 and 32 years of age, and a 14-year-old teenager) with CAIS harboring a new 5’UTR variant of <italic>AR</italic> . Sanger sequencing of th...

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Literature Corpus work: 1a5bd234-dbeb-567f-8885-60a36c855836
DOI: 10.21203/rs.3.rs-8151404/v1

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