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

## TL;DR

A 46-year-old man with infertility and hormonal issues was found to have a rare genetic condition called Robertsonian translocation, which can affect fertility and hormone levels.

## Contribution

This case report highlights the role of Robertsonian translocation in causing infertility and normogonadotropic hypogonadism, emphasizing the need for genetic testing in such cases.

## Key findings

- A balanced Robertsonian translocation (14;21) was identified as the cause of normogonadotropic hypogonadism and infertility in a 46-year-old man.
- The patient exhibited low testosterone, azoospermia, and testicular atrophy, along with gynecomastia and osteopenia.
- The case underscores the importance of cytogenetic analysis in diagnosing infertility linked to genetic abnormalities.

## Abstract

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.