HCeq doses of at least 20 mg/d in adults with hypopituitarism are associated with an unfavorable metabolic profile. CA replacement may have metabolic advantages compared with other GCs.

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.

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.

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