Abstract
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).
Highlights
Androgens play a role in sex differentiation and the development of male sexual characteristics
The N-terminal domain NTD is encoded by exon 1 and is the largest domain in the androgen receptor (AR), comprising more than half of the receptor, while the DNA binding domain (DBD) is encoded by exons 2–3 and the ligand binding domain (LBD) by exons 4–81
For CAIS presenting in infancy, gonadectomy may be performed with puberty induction, as there is a potential risk of gonadal tumor[2]
Summary
Androgens play a role in sex differentiation and the development of male sexual characteristics. Pathogenic variants in the AR gene cause AIS (OMIM 300068) characterized by complete or partial resistance to the biological actions of androgens in an individual with XY karyotype with normal testes and production of ageappropriate androgen concentrations. CAIS often presents in infancy as an inguinal hernia or labial swelling containing a testis in an apparently normal female or may present as a mismatch between prenatal sex prediction (XY) and phenotype at birth (female)[2]. The diagnosis of CAIS is usually based on clinical presentation and laboratory findings.
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