Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer–Vinson Syndrome

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin-releasing hormone (GnRH). Here, we present a case of a 25-year-old male with a known history of Plummer-Vinson syndrome and celiac disease, who presented with the chief complaints of easy fatigability, shortness of breath on exertion, difficulty in swallowing, and no secondary sexual characteristics. Physical examination revealed a pale, thin, and lean male appearing significantly younger than his chronological age with notable findings of microgenitalia, absence of facial and axillary hair, decreased muscle mass, and no deepening of voice. His workup for delayed puberty, including hormonal studies, indicated hypogonadotropic hypogonadism, whereas Genetic testing confirmed a normal male karyotype. U/S scrotum showed bilateral atrophic testes. However, Neuroimaging studies revealed a normal olfactory bulb, no findings of agenesis, and hypoplasia of the olfactory sulcus. Thus, our findings in this case were consistent with and favor the diagnosis of congenital hypogonadotropic hypogonadism, also known as Idiopathic hypogonadotropic hypogonadism. It can be misdiagnosed as functional hypogonadotropic hypogonadism or simple constitutional delay of growth and puberty, especially in the presence of chronic illness. Thus, clinicians should consider CHH as one of the differential diagnoses and adopt a multidisciplinary approach when evaluating patients with delayed puberty. Timely and accurate diagnosis is crucial to initiate appropriate hormonal therapy and prevent long-term complications such as infertility and osteoporosis.