Publication:

Functional hypogonadotropic hypogonadism in an adolescent male with neurofibromatosis type 1: a case report

Delayed puberty in males may result from permanent or reversible causes of hypogonadotropic hypogonadism. We describe a 16-year-old adolescent male with neurofibromatosis type 1 (NF1) who presented with delayed puberty. Baseline gonadotropins and testosterone levels were low; however, a robust luteinizing hormone response to leuprolide stimulation confirmed preserved pituitary reserve, consistent with functional hypothalamic suppression. The patient had undergone multiple major surgeries and demonstrated NF1-related sphenoid bone abnormalities on imaging. Testosterone therapy was initiated with gradual dose escalation. This case highlights the importance of identifying reversible causes of delayed puberty in adolescents with chronic multisystem disorders.