Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

ABSTRACT:

Objective

To conduct longitudinal precision clinical phenotyping and management planning of 45,X/46,XY mosaicism case, including in-depth documentation of notable deviations at the male accessory glands level, monitoring and timely handling of potential comorbidities.

Design

Case report.

Subject

A 29-year-old phenotypically male patient of European origin presenting for andrological evaluation due to sudden enlargement of the right hemiscrotum.

Results

We report a 29-year-old phenotypically male patient with 45,X/46,XY mosaicism and syndromic features, short stature (152 cm), inguinal hernia, azoospermia, moderate testicular hypotrophy (10 mL and 8 mL by orchidometer), distal hypospadias, and autoimmune thyroiditis. The patient presented normal intelligence quo

SUBMITTER: Tjagur S 

PROVIDER: S-EPMC12905614 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature