Hypogonadotropic Hypogonadism in a Central Obesity Patient with 46, XY, t(1; 10)(q42; q24)

Hypogonadotropic hypogonadism (HH) is characterized by absent or insufficient secretion of GnRH and/or pituitary gonadotropins, which consequently leads to testicular dysfunction. HH is commonly associated with obesity, particularly in specific genetic syndromes, and its etiology appears heterogeneous and remains far from fully understood. This report describes the case of a 31-year-old male with HH and central obesity, who has a karyotype of 46, XY, t(1; 10)(q42; q24). He demonstrated a good pituitary response to GnRH as well as a robust testicular reserve in both the GnRH stimulation test and the hCG stimulation test. Notably, he exhibited no lifestyle risk factors for obesity or comorbidities likely contributing to his condition. The SCD1 gene, located at 10q24.31, promotes the synthesis of fatty acids, and its abnormality may play a significant role in the pathogenesis of obesity. We propose that the translocation between chromosome 1q42 and chromosome 10q24 may disrupt the function of SCD1 at chromosome 10q24, resulting in the mutually reinforcing relationship between obesity and HH in this patient.