Endocrine Abstracts

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.

Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClinic after a osteoporoticleft hip fracture.

He had a previous osteoporotic right hip fractureat 43 years-old and epilepsy, hypothyroidism, esophagitis, dyslipidemia and cognitive deficit.

Central obesity, reduced facial and body hair, poor muscle development, gynecomastia and testicular atrophy were observed.

The analytical evaluation showed normal thyroid function, P1NP 70.8 ng/ml, 25(OH)D 18.1 ng/ml, FSH18.7 U/l, LH 14.8 U/l,total testosterone 46.6 ng/dl. A karyotype study revealed a 48, XXYY syndrome.

He was started on intravenous zoledronic acid, intramuscular testosterone and oral calcium and vitamin D supplementation.

Conclusion: The 48 XXYY Syndrome,previously considered as a variant of Klinefelter syndrome, is nowadays described as a distinct clinical and genetic entity, as the medical problems and more complex psychological and neurodevelopmental involvement are usually present. The hypogonadism may also predispose these patients to osteoporosis and fragility fractures.