Bone mass, gonadal function and biochemical assessment in young men with trisomy 21

Abstract

Objective: The objective of the study was to find out whether biochemical and hormonal profile of sexual function and mineral metabolism are related to low bone mass in young men with Down syndrome.

Study design: Eleven young men with trisomy 21 (mean age 26.45 years) and 12 healthy university students of similar age, participated in the study. The bone mineral density (BMD) of the lumbar vertebrae was measured in posteroanterior (PA) projection. Sexual development was assessed by clinical examination. The levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone, dehydroepiandrosterone sulfate (DHEA-S), 17-OH progesterone and parathormone (PTH) were measured accordingly by radioimmunoassay. Serum calcium (Ca) and phosphate (P) as well as fasting urinary Ca and hydroxyproline (OHP) were also measured.

Results: BMD in DS patients was significantly lower (P<0.001) compared to their control counterparts. No significant differences were observed in mean concentrations of FSH, testosterone and DHEA-S, while LH and 17-OH progesterone levels were significantly higher in DS compared to control group (P<0.01 and <0.05, respectively). Serum Ca and P and urine Ca/Creat ratio did not differ between groups. OHP/Creat ratio was significantly higher in DS patients. PTH levels were extremely low (1pmol/l) in two patients.

Conclusions: The findings of this study show decreased bone mass in subjects with DS. Factors, possibly related to low bone mass, are some degree of hypogonadim, hypotonia, low muscular strength and immobility. The findings suggest further research on the biochemistry and endocrinology of bone metabolism in patients with trisomy 21.