We identified increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype. This speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions. The impact of the disease on upbringing and interpersonal relationships did not correlate with disease severity, indicating that other factors, such as coping strategies, are important for psychosocial adaptation. This illustrates the need for psychological support to parents and patients.

No clear evidence of unfavorable cardiovascular risk factors were found. Increased fat mass and higher insulin levels were, however, found in patients older than 30 yr. High frequency of gestational diabetes is a risk marker for future diabetes. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.

Context:Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an established risk factor for osteoporosis.Objective: Our objective was to evaluate bone mineral density (BMD), fracture prevalence, and markers of bone metabolism in adult females with CAH.Design: This was a cross-sectional observational study. Setting:Tertiary care referral centers were used in this study. Participants:We studied 61 women, aged 18 -63 yr, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt wasting (n ϭ 27), simple virilizing (n ϭ 28), and nonclassical 21-hydroxylase deficiency (n ϭ 6). A total of 61 age-matched women were controls. Main Outcome Measures:History of fractures was recorded. Total body, lumbar spine, and femoral neck BMD were measured by dualenergy x-ray absorptiometry. The World Health Organization criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, ␤-C telopeptide was studied. Results:The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 Ϯ 0.9 mg/m 2 . Patients had lower BMD than controls at all measured sites (P Ͻ 0.001). In patients younger than 30 yr old, 48% were osteopenic vs. 12% in controls (P Ͻ 0.009). In patients 30 yr or older, 73% were osteopenic or osteoporotic vs. 21% in controls (P Ͻ 0.001). BMD was similar in the two classical forms and had no obvious relationship to genotypes. ␤-C-telopeptide was decreased in older patients. More fractures were reported in patients than controls (P Ͻ 0.001). The number of vertebrae and wrist fractures almost reached significance (P ϭ 0.058). Conclusions:Women with CAH have low BMD and increased fracture risk. BMD should be monitored, adequate prophylaxis and treatment instituted, and glucocorticoid doses optimized from puberty.

Pregnancy and delivery rates are reduced in women with CAH mainly due to psychosocial reasons. The outcome of children did not differ from controls. The unexpected sex ratio in children born to mothers with CAH warrants further research.

The overall quality of life in adult women with CAH is affected both by the type of mutation and operative procedure. Indications for clitoroplasty should be restrictive. Medical, surgical, and psychological treatment should be centralized.

Aim: To study bone mass, body composition and androgenic/anabolic activity in adult women with virilizing congenital adrenal hyperplasia (CAH) treated with glucocorticoids since infancy and to relate this to the postmenarcheal glucocorticoid impact. Patients and methods: Thirteen adult women with virilizing CAH treated with gluco-and mineralocorticoids but otherwise medicine-free were investigated with respect to bone mineral content, body composition by dual energy X-ray absorptiometry and endocrine status. In addition an index of accumulated postmenarcheal exogenous glucocorticoid impact was calculated. Seven of the patients had regular menstrual periods, and six were oligomenorrheic but responded with withdrawal bleedings on cyclic progestagens. The data for the patients were compared with those of age-matched healthy reference subjects. Results: In spite of their shorter stature, CAH patients were significantly heavier and had a significantly higher body mass index and fat/lean body mass ratio than the controls. Their bone mineral area density (BMD) was significantly lower than that of the controls. Serum concentrations of androgens were subnormal in all except two of the patients. Strong negative associations were found between BMD and the calculated index of accumulated postmenarcheal glucocorticoid dose but not between BMD and circulating androgen levels. Conclusion:The results indicate that glucocorticoids were administered in excess in most of the patients, resulting in subnormal levels of adrenocortical androgens, increased body fat and bone demineralization. Increased catabolic activity due to hypercortisolism rather than decreased androgenic/anabolic steroids is probably the major cause of the subnormal BMD in the treated CAH patients.

Our data show that the null genotype group was considerably more affected by the condition than the other groups and should be regarded as a subgroup, both psychologically and from a surgical perspective. Genotyping adds clinically valuable information.

A study of 49 middle-aged (>35 years old) women with Turner's syndrome was performed to evaluate medical status, hormonal treatment and social life. Most of the women lived a normal social life in stable