Hui Cao, Han Luo, Jiehan Zhang, Qiao Zhang, Huiqing Li, Lulu Chen, Tianshu Zeng, Xiang Hu
JBRA Assist. Reprod. 2025; 29 (4):817-822
Received December 13, 2024
Accepted November 26, 2025
Abstract
Hypogonadotropic hypogonadism (HH) is characterized by absent or inadequate secretion of GnRH and/or pituitary gonadotropins, and consequently induces testicular dysfunction. HH is commonly and closely related to and coincides with obesity, especially in some genetic syndromes, and the etiology seems heterogeneous and remains far from completely clear. Here we reported a 31-year-old male patient characterized by HH and central obesity with 46, XY, t(1; 10)(q42; q24), who had a good pituitary response to GnRH and a good testicular reserve in GnRH stimulation test and hCG stimulation test, respectively. Notably, there seemed to be no lifestyle risk factors for obesity or co-morbidities that were likely to cause obesity in the patient. SCD1 gene, which is located at 10q24.31, promotes the synthesis of fat acids and its abnormality is likely to play an important role in the pathogenesis of obesity. Herein, we put forward that the translocation between chromosome 1q42 and chromosome 10q24 might cause the dysfunction of SCD1 in chromosome 10q24, and lead to the mutually enhancing obesity and HH in the patient.