Previously Unrecognized Congenital Hypogonadotropic Hypogonadism in an 89-Year-Old Man: A Case Report

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder typically recognized during adolescence because of absent or incomplete pubertal development. We report the case of an 89-year-old man admitted for an ischemic stroke whose physical examination revealed a high-pitched voice, markedly sparse facial and axillary hair, bilateral gynecomastia, a markedly reduced penile size clinically suggestive of micropenis, and nonpalpable testes in the scrotum. Hormonal evaluation showed a total testosterone concentration below 7.00 ng/dL, luteinizing hormone below 0.07 IU/L, and follicle-stimulating hormone of 0.83 IU/L, consistent with severe central hypogonadism. Ultrasonography demonstrated both testes within the inguinal canals with reduced testicular size. Magnetic resonance imaging (MRI) of the sellar region showed no structural hypothalamic-pituitary abnormality. Although advanced age and acute systemic illness may have contributed to further functional suppression of the hypothalamic-pituitary-gonadal axis, these factors could not account for the developmental genital abnormalities. Integration of the phenotypic, biochemical, and imaging findings supported a clinical diagnosis of previously unrecognized CHH. This case illustrates an exceptionally late recognition of CHH and highlights the diagnostic value of developmental phenotypic features in identifying a congenital disorder that may remain unrecognized for decades.