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Submitted on April 2, 2007
Accepted on September 7, 2007
Department of Endocrinology, Metabolism and Diabetes, Department of Molecular Medicine and Surgery, Department of Paediatric Surgery, Astrid Lindgren Children Hospital, and Department of Women and Child Health, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden; Department of Endocrinology, Department of Paediatric Surgery, Queen Silvia Children Hospital; and Department of Obstetrics and Gynaecology, Sahlgrenska University Hospital and Sahlgrenska Academy, Gothenburg, Sweden
* To whom correspondence should be addressed. E-mail: henrik.falhammar{at}karolinska.se.
Context: Patients with classic congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacologic doses of glucocorticoids are an established risk factor for osteoporosis.
Objectives: 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.
Participants: We studied 61 women, aged 18–63 years, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt-wasting (n = 27), simple virilising (n = 28) and non-classic 21-hydroxylase deficiency (n = 6). Sixty-one age-matched women were controls.
Main outcome measures: History of fractures was recorded. Total body, lumbar spine and femoral neck BMD were measured by dual-energy X-ray absorptiometry. The WHO criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, 
-C telopeptide (CTX) was studied.
Results: The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 ± 0.9 mg/m2. Patients had lower BMD than controls at all measured sites (P < 0.001). In patients < 30 years old 48% were osteopenic vs 12% in controls (P < 0.009). In patients 
30 years old 73% were osteopenic or osteoporotic vs 21% in controls (P < 0.001). BMD was similar in the two classic forms and had no obvious relationship to genotypes. CTX was decreased in older patients. More fractures were reported in patients than controls (P < 0.001). The number of vertebrae and wrist fractures almost reached significance (P = 0.058).
Conclusion: 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.
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