Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial.

OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17B-estradiol in young TS women on bone mineral density (BMD), biochemical markers of bone turnover and body composition with the hypothesis of a positive effect of the higher dose. DESIGN: A double-blind 5-year randomized controlled clinical trial. 20 young TS women participated. Inclusion criteria were diagnosis of TS, age 15-25 years and current treatment with 2 mg oral estradiol daily. METHODS: The low-dose (LD) group was administered 2 mg 17B-estradiol/day orally and placebo, the high-dose (HD) group was administered 2 + 2 mg 17B-estradiol/day orally. Main outcome measures were whole body and regional bone mineral density (BMD), lean body mass (LBM), fat mass (FM) measured yearly by DXA scan and resorptive and formative bone markers in serum. RESULTS: BMD, whole body and regional, increased over time with an attenuation toward the end of the study, and bone turnover markers decreased over time, both with no differences between the treatment groups (P = 0.2-0.9). LBM increased significantly more in the HD group (P = 0.02). FM remained stable in both groups. CONCLUSIONS: A steady increase in BMD over time in TS was found similar to healthy young women. The higher estrogen dose did not differentially affect BMD or bone markers. The positive effect on body composition may have long-ranging health benefits in TS.

Anti-Müllerian hormone in pregnant women in relation to other hormones, fetal sex and in circulation of second trimester fetuses.

The aim of this study was to investigate the regulation of anti-Müllerian hormone (AMH) blood concentrations in mother and fetus during pregnancy. Serum concentrations of AMH, gonadotrophins, oestradiol and progesterone were measured in pregnant women in the first trimester and AMH concentrations in second-trimester fetuses, and these were compared in relation to the sex of the fetus. A total of 153 women undergoing elective termination of a first-trimester pregnancy and seven second-trimester pregnant women undergoing cordocentesis were included. Concentrations of AMH in the serum of first-trimester pregnant women were similar to non-pregnant women and were unrelated to the very high concentrations of human chorionic gonadotrophin and the undetectable concentrations of FSH and LH. Serum concentrations of oestradiol and progesterone were unrelated to the concentrations of AMH and the sex of the fetus. Serum concentrations of AMH of four, second trimester, male fetuses ranged from 64 to 92 ng/ml, whereas it was undetectable in female fetuses. It appears that AMH serum concentrations in first-trimester pregnant women seem to be independent of gonadotrophin concentrations and fetal sex. The concentration of AMH in the circulation of male fetuses is higher than previously reported and is a highly sensitive marker for fetal sex.