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Fractures and Bone Mineral Density in Adult Women with 21-Hydroxylase Deficiency

Departments of Endocrinology, Metabolism and Diabetes (H.Fa., M.T.), Molecular Medicine and Surgery (H.Fa., A.N., M.T.), Paediatric Surgery (A.N.), and Women and Child Health (K.H.), Karolinska University Hospital and Karolinska Institute, SE-171 76 Stockholm, Sweden; and Departments of Endocrinology (H.Fi.), Paediatric Surgery (G.H.), and Obstetrics and Gynaecology (P.-O.J.), Sahlgrenska University Hospital and Sahlgrenska Academy, SE-413 45 Gothenburg, Sweden

Address all correspondence and requests for reprints to: Dr. Henrik Falhammar, Department of Endocrinology, Metabolism and Diabetes, D2:04, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. E-mail: henrik.falhammar{at}karolinska.se.

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 = 27), simple virilizing (n = 28), and nonclassical 21-hydroxylase deficiency (n = 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 dual-energy x-ray absorptiometry. The World Health Organization criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, β-C telopeptide 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 younger than 30 yr old, 48% were osteopenic vs. 12% in controls (P < 0.009). In patients 30 yr or older, 73% were osteopenic or osteoporotic vs. 21% in controls (P < 0.001). BMD was similar in the two classical forms and had no obvious relationship to genotypes. β-C-telopeptide 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).

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.

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