Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia

• Published in: European journal of endocrinology Vol. 168; no. 3; pp. 331 - 341
• Main Authors: Falhammar, Henrik, Filipsson Nyström, Helena, Wedell, Anna, Brismar, Kerstin, Thorén, Marja
• Format: Journal Article
• Language: English
• Published: Bristol BioScientifica 01.03.2013
• Subjects: Adrenal Hyperplasia, Congenital - drug therapy; Adrenal Hyperplasia, Congenital - genetics; Adrenal Hyperplasia, Congenital - metabolism; Adrenal Hyperplasia, Congenital - physiopathology; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Adult; Aged; Biological and medical sciences; Biomarkers - blood; Bone and Bones - metabolism; Bone Density; Clinical Medicine; Clinical Study; Cohort Studies; Endocrinopathies; Fractures, Bone - epidemiology; Fractures, Bone - etiology; Fundamental and applied biological sciences. Psychology; Genetic Association Studies; Glucocorticoids - adverse effects; Glucocorticoids - therapeutic use; Hormone Replacement Therapy - adverse effects; Humans; Insulin-Like Growth Factor I - analysis; Investigative techniques, diagnostic techniques (general aspects); Klinisk medicin; Male; Medical sciences; Middle Aged; Mutation; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Osteoarticular system. Muscles; Osteocalcin - blood; Osteoporosis - epidemiology; Osteoporosis - etiology; Osteoporosis - physiopathology; Prevalence; Radiodiagnosis. Nmr imagery. Nmr spectrometry; Steroid 21-Hydroxylase - genetics; Steroid 21-Hydroxylase - metabolism; Sweden - epidemiology; Vertebrates: endocrinology; Young Adult; Endocrinopathy; Human; Adrenal cortex diseases; Diseases of the osteoarticular system; Biological marker; Male; Hyperadrenocorticism; Fracture; Enzymopathy; Trauma; Osteoarticular system; Congenital adrenal hyperplasia syndrome; Adrenal gland diseases; Adult; Bone mineral density; Bone; Endocrinology
• ISSN: 0804-4643; 1479-683X; 1479-683X
• DOI: 10.1530/EJE-12-0865

ObjectiveThe 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 designWe 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.ResultsAll, 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.ConclusionsCAH 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.