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Metabolic Profile and Body Composition in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Departments of Endocrinology, Metabolism, and Diabetes (H.Fa., M.T.), Molecular Medicine and Surgery (H.Fa., A.N., M.T.), and Paediatric Surgery (A.N.), Astrid Lindgren Children’s Hospital, Department of Women and Child Health (K.H.), Karolinska University Hospital and Karolinska Institute, SE-171 76 Stockholm, Sweden; Department of Paediatric Surgery (G.H.), Queen Silvia Children’s Hospital, Gothenburg SE-416 85, Sweden; and Departments of Endocrinology (H.Fi.) 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: The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase morbidity in cardiovascular disease and diabetes.

Objective: Our aim was to assess risk factors for cardiovascular disease and diabetes in CAH women.

Subjects, Methods, and Design: We compared 61 women, 18–63 yr, with CAH due to 21-hydroxylase deficiency with 61 age- and sex- matched controls. Twenty-seven were younger than 30 yr, and 34 were 30 yr or older. Anthropometry, fat and lean mass measured by dual-energy x-ray absorptiometry, serum lipids, insulin, and adrenocortical steroids were studied.

Main Outcome Measure: Body composition and cardiovascular risk factors were the main outcome measures.

Results: Younger patients and controls had similar waist to hip ratio, lean and fat mass, and insulin. Older patients had higher waist to hip ratio, lean mass, and insulin than controls. Fat mass was similar to controls but higher than in younger patients. Lipid profiles were slightly more favorable in older patients than controls. Gestational diabetes was more common in patients (21% of pregnancies vs. 0, P < 0.026). Few older patients had hypertension, cardiovascular disease, or diabetes. Despite moderate glucocorticoid doses, most patients had suppressed androgens.

Conclusions: 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.

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