Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.

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Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.

The role of expectant management was evaluated in 80 women in whom clinical examination, including vaginal ultrasound, had failed to identify the location of an early pregnancy. In 45 cases, spontaneous resolution of the pregnancy products occurred. A normal intra-uterine pregnancy was diagnosed in 12 patients. A total of 23 patients underwent active therapeutic measures due to an ectopic pregnancy (n = 16) or a spontaneous abortion (n = 7). The effectiveness of different diagnostic measures to identify patients suitable for expectant management was analysed. In 33/34 patients (97%) with a relative daily human chorionic gonadotrophin (HCG) change of < -5%, and a serum progesterone concentration of < 20 nmol/l, spontaneous resolution of the pregnancy products occurred. Among 46 cases, with a relative daily HCG change of > -5% and/or serum progesterone > 20 nmol/l, active therapeutic measures were carried out in 22 cases (48%), a normal intra-uterine pregnancy was diagnosed in 12 cases (26%) and spontaneous resolution of the pregnancy products occurred in 12 cases (26%). In conclusion, the combination of a single progesterone assay and serial HCG determinations retrospectively identified early pregnancies of uncertain location in whom expectant management was a safe management option.

OBJECTIVE Turner syndrome (TS) is a chromosomal aberration (45,X) characterized by endogenous oestrogen deficiency and short stature. The aim was to study body composition, bone mineral density, fracture frequency, social and life style factors and biochemical bone markers, as well as hormones, in adults with TS in comparison with a female random population sample. PATIENTS Seventy women with TS responded to questionnaires. They underwent physical examination, bone mineral density measurement with Dual Energy X-ray Absorptiometry (DEXA) and blood sampling. Mean age was 31 Ϯ 12 (range 16-71) years. A random population sample of women from the WHO MONICA Project, Gö teborg (25-64 years) served as controls (n ¼ 740). RESULTS Women with TS were shorter than the controls and had lower body weight and lean body mass (P < 0·0001). Body mass index and waist/hip circumference ratio were higher in TS (P < 0·0001). Osteoporosis was present in seven TS women, six above 45 years of age. None of these had received oestrogen substitution continuously. Fractures (all types) were reported by 11 (16%) TS women (six (50%) above 45 years) compared with 5% in the population sample (P < 0·001). Four TS women with fractures had osteoporosis, all above 45 years of age. Osteoporosis and fractures did not differ between women with the 45,X karyotype and those with