A phenotypical male with 46,XX karyotype: A rare case report
Year: 2025
Type: article
Study design: Case Report
Abstract: The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype. This disorder usually presents with varying degrees of clinical features, ranging from ambiguous to normal male genitalia. The usual presentation in adults is infertility. Here, we describe the clinical, biochemical, and cytological findings of a 28-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD presented with bilateral gynecomastia, erectile dysfunction, loss of libido, and infertility. Biochemical analysis revealed hyper gonadotrophic hypogonadism, and semen analysis showed azoospermia. Chromosomal analysis revealed 46,XX karyotype. Polymerase Chain Reaction (PCR) showed the SRY region translocated to the short arm of the X chromosome. J Assoc Clin Endocrinol Diabetol Bangladesh, January 2024;4(1): 34-38
Authors: Mashfiqul Hasan, Md Rakib-Mia, Md Fariduddin, Mohammed Touhid Noman, Murshed Ahamed Khan
Institution: Bangladesh Medical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408629063