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

Bharani Anand Ramalingam; Parvathy S.

doi:10.18203/2349-3291.ijcp20260108

Authors

Bharani Anand Ramalingam Department of Paediatrics, Meitra Hospital, Kozhikode, Kerala, India
Parvathy S. Department of Paediatrics, Meitra Hospital, Kozhikode, Kerala, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20260108

Keywords:

Delayed puberty, Hypogonadotropic hypogonadism, Neurofibromatosis type 1, GnRH stimulation test, Testosterone therapy

Abstract

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.

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