Gonadal function in young women with Down syndrome.

Objective: Investigations suggest an increased incidence of gonadal dysfunction in patients with Down syndrome. New features, Alzheimer disease and osteoporosis emerge in these individuals. Therefore, hormonal investigation in persons with Down syndrome is pursued.

Methods: Thirteen females with trisomy 21 (23.65 +/- 3.23 years old) participated in the study. Ultrasound studies were performed to explore the internal genitals. Blood samples were taken for the determination of follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), prolactin (PRL), dehydroepiandrosterone sulfate (DHEA-S), testosterone (T) and 17-hydroxyprogesterone (17-OHP).

Results: The patients were at stage V of sexual development. Ultrasonography demonstrated normal uterine and ovarian size and endometrial thickness as well. The ovaries of all patients contained follicles of normal distribution and various sizes. The mean concentrations of FSH, DHEA-S and E2 were normal. The level of PRL was significantly higher than that of the controls, but within the normal lab range. The levels of LH, T and 17-OHP were significantly elevated, compared to those of the control group (P < 0.05, P < 0.01, P < 0.001, respectively).

Conclusions: Our data produce new information on the gonadal function of Down syndrome women. Specific studies on pituitary-gonadal and pituitary-adrenal axis function are needed.