SRY-Positive 46-XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report

Abstract

Introduction Disorders of sex development (DSD) are defined as situations where chromosome structure, gonads, or anatomical structure are incompatible with each other. One of these groups of disease, 46XX testicular DSD, was first reported in 1964 (1). The prevalence of 46XX testicular DSD is estimated to be 1 in 20,000 male births (2). Although pubic hair development and penis length post-puberty are normal, these patients have infertility associated with azoospermia (3). 46XX testicular DSD is diagnosed by evaluating clinical, endocrinological, and cytogenetic test results. The most important treatment method, testosterone replacement therapy, is necessary to improve sexual characteristics and sexual desire. In this report, we aimed to document a case of 46XX testicular DSD, who presented with complaints of small testes. 46XX testicular disorder of sex development (DSD) is a rare condition characterized by sexual differentiation disorder with testicular insufficiency. Normal sex development often complicates the diagnosis of this ailment in adults. Patients are usually diagnosed incidentally during infertility research. In this article, we aimed to highlight the hormonal, molecular, and cytogenetic results of an adult male patient diagnosed with 46XX testicular DSD suffering from hypergonadotropic hypogonadism.