Document Detail

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.
MedLine Citation:
PMID:  23211577     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The aim of this study was to determine bone mineral density (BMD), markers of bone metabolism, fractures, and steroids reflecting hormonal control in adult males with congenital adrenal hyperplasia (CAH). SUBJECTS, METHODS, AND DESIGN: We compared CAH males with 21-hydroxylase deficiency (n=30), 19-67 years old, with age- and sex-matched controls (n=32). Subgroups of CYP21A2 genotypes, age, glucocorticoid preparation, poor control vs overtreatment, and early vs late (>36 months) diagnosis were studied. BMD measured by dual energy X-ray absorptiometry and markers of bone metabolism and androgens/17-hydroxyprogesterone levels were investigated.
RESULTS: All, including older (>30 years), CAH patients had lower BMD in all measured sites compared with control subjects. The null group demonstrated lower BMD in more locations than the other groups. Osteoporosis/osteopenia was present in 81% of CAH patients compared with 32% in controls (≥30 years). Fracture frequency was similar, osteocalcin was lower, and fewer patients than controls had vitamin D insufficiency. IGF1 was elevated in the milder genotypes. In patients, total body BMD was positively correlated to weight, BMI, total lean body mass, and triglycerides, and negatively to prolactin. Patients on prednisolone had lower BMD and osteocalcin levels than those on hydrocortisone/cortisone acetate. Patients with poor control had higher femoral neck BMD. There were no differences in BMD between patients with an early vs late diagnosis.
CONCLUSIONS: CAH males have low BMD and bone formation markers. BMD should be monitored, adequate prophylaxis and treatment established, and glucocorticoid doses optimized to minimize the risk of future fractures.
Henrik Falhammar; Helena Filipsson Nyström; Anna Wedell; Kerstin Brismar; Marja Thorén
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2013-02-15
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  168     ISSN:  1479-683X     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-18     Completed Date:  2013-04-08     Revised Date:  2013-05-08    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  331-41     Citation Subset:  IM    
Department of Endocrinology, Metabolism and Diabetes, D02:04, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
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MeSH Terms
Adrenal Hyperplasia, Congenital / drug therapy,  genetics,  metabolism*,  physiopathology*
Biological Markers / blood
Bone Density
Bone and Bones / metabolism*
Cohort Studies
Fractures, Bone / epidemiology,  etiology*
Genetic Association Studies
Glucocorticoids / adverse effects,  therapeutic use
Hormone Replacement Therapy / adverse effects
Insulin-Like Growth Factor I / analysis
Middle Aged
Osteocalcin / blood
Osteoporosis / epidemiology,  etiology*,  physiopathology
Steroid 21-Hydroxylase / genetics*,  metabolism
Sweden / epidemiology
Young Adult
Reg. No./Substance:
0/Biological Markers; 0/Glucocorticoids; 104982-03-8/Osteocalcin; 67763-96-6/Insulin-Like Growth Factor I; EC protein, human; EC 21-Hydroxylase

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