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

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.