When Genetics Meet Hormones: Infertility and Normogonadotropic Hypogonadism From Robertsonian Translocation (14;21)

Infertility is a common issue among couples of reproductive age, and male patients may be affected by a variety of underlying conditions, with Robertsonian translocations representing a relatively rare cause. This case report presents a 46-year-old infertile man diagnosed with normogonadotropic hypogonadism caused by a balanced Robertsonian translocation 45, XY, t(14;21) (q10;q10). The patient reported unprotected sexual intercourse for a year and a half without achieving pregnancy. Physical examination revealed infantile body habitus, bilateral gynecomastia, scarce facial and pubic hair, decreased penile length, and atrophic testicles. Spermatobioscopy showed hypospermia and azoospermia, while testicular Doppler ultrasound revealed bilateral testicular atrophy. Hormonal profile indicated low serum total testosterone with low-normal follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. Bone densitometry revealed osteopenia. Genetic analysis confirmed the presence of the Robertsonian translocation. This case highlights the importance of including cytogenetic analysis in the diagnostic workup of men with infertility, particularly those with azoospermia and hypogonadism. Robertsonian translocations can disrupt spermatogenesis and contribute to hormonal alterations, even in phenotypically normal patients. Early diagnosis facilitates appropriate counseling regarding reproductive options and management of hypogonadism to prevent metabolic complications and improve quality of life.