Genetics & Molecular Medicine

Genetics & Molecular Medicine

Open Access
ISSN: 2689-1077
Case Report

Normosmic Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, and Testicular Microlithiasis as Presentation of 45XY Robertsonian Translocation

Authors: Eric Baghdasaryan, Robert Turner, Osheen Abnous, Yadira Valles-Ayoub*, Michael Robinson

DOI: 10.33425/2689-1077.1022


Abstract

Male hypogonadism is characterized by the failure of the testes to produce normal levels of testosterone, sperm, or both. It can manifest as either primary hypogonadism (testicular dysfunction) or secondary hypogonadism (hypothalamic pituitary dysfunction). Testosterone is critical for the development of male physical characteristics and plays an essential role in maintaining muscle mass, bone density, sexual function, and overall mood and energy levels. Hypogonadism, either primary or secondary, can present in various stages of life with different associated symptoms. Most commonly prepubertal age males present with delayed puberty, whereas adult males present with symptoms of decreased libido, erectile dysfunction, fatigue, overall lack of energy and infertility. This report describes a case of hypogonadotropic hypogonadism, testicular microlithiasis, and pituitary hypoplasia associated with a 13;14 Robertsonian translocation, an uncommon and incompletely understood etiology of hormonal dysfunction and infertility.

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Citation: Eric Baghdasaryan, Robert Turner, Osheen Abnous, et al. Normosmic Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, and Testicular Microlithiasis as Presentation of 45XY Robertsonian Translocation. 2024; 6(1). DOI: 10.33425/2689-1077.1022
Editor-in-Chief
Ahmed Hamed Al-Amri
Ahmed Hamed Al-Amri
National Genetics Center | Royal Hospital

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