A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens

Ganbayar Batmunkh; Purevtogtokh Myagmartseren; Tuul Bayarsaikhan; Tserendagva Dalkh; Munkhtuya Tumurkhuu

doi:10.18502/jfrh.v15i4.7895

Ganbayar Batmunkh Division of Medical Genetics, National Center of Maternal and Child Health, Ulaanbaatar, Mongolia
Purevtogtokh Myagmartseren Infertility clinic, National Center of Maternal and Child Health, Ulaanbaatar, Mongolia
Tuul Bayarsaikhan Division of Medical Genetics, National Center of Maternal and Child Health, Ulaanbaatar, Mongolia
Tserendagva Dalkh International School of Mongolian Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar, Mongolia
Munkhtuya Tumurkhuu Department of Chemistry, North Carolina State University, North Carolina, USA

DOI: https://doi.org/10.18502/jfrh.v15i4.7895

Keywords: Chromosomal Aberrations; Male Infertility; Magnetic Resonance Imaging; Sexual Development; 46, XX Testicular Disorders of Sex Development

Abstract

Objective: This study aimed to investigate the cause of primary infertility in a rare case with unilateral absence of vas deferens.

Case report: A 35-year-old man was presented to the Infertility Clinic at the National Center of Maternal and Child Health (NCMCH) with an eight-year history of primary infertility. Clinical examination showed a normal intelligence with a coarse facial appearance and small testicles. Hormonal tests detected elevated levels of prolactin (PRL), follicle stimulating hormone (FSH), and luteinizing hormone (LH), and low levels of testosterone. Chromosomal analysis with fluorescence in situ hybridization (FISH) revealed a 46XX with SRY (sex-determining region Y) positive karyotype with translocation of the SRY gene (46XX der(X)t(X:Y)(p11.1:p11.3)(SRY+)). Magnetic resonance imaging (MRI) revealed bilateral seminal vesicles atrophy and agenesis of the vas deferens on the right side, which is rarely found in 46, XX male syndrome.

Conclusion: Although 46XX testicular disorder of sexual development (DSD) cases are rare, multiple aspects of the clinical examinations are important to make an accurate diagnosis and to provide proper genetic counseling and guidance to patients in their long-term management.