Diagnosis of Male Central Hypogonadism During Childhood

Abstract The diagnosis of male central (or hypogonadotropic) hypogonadism, typically based on low luteinizing hormone (LH) and testosterone levels, is challenging during childhood since both hormones are physiologically from the sixth month until onset puberty. Conversely, follicle-stimulating (FSH) anti-Müllerian (AMH), which show higher circulating levels infancy childhood, not used as biomarkers for condition. We report case a 7-year-old boy with history bilateral cryptorchidism who showed repeatedly FSH AMH serum prepuberty. Unfortunately, could be ascertained he presented delayed puberty at age 14 years. A gonadotropin-releasing (GnRH) test impaired LH response. By then, his growth bone mineralization were partially impaired. Gene panel sequencing identified variant in exon 15 FGFR1, affecting tyrosine kinase domain receptor, involved GnRH neuron migration olfactory bulb morphogenesis. Testosterone replacement was started, resulted development secondary sexual characteristics partial improvement mineral density. This illustrates difficulty making hypogonadism boys classical criteria, how assessment may helpful if it suspected before puberty, confirm using next-generation sequencing. possibility an early useful timely start therapy, to avoid delays that affect health well psychosocial adjustment.