| 1. |
- Falhammar, Henrik, et al.
(författare)
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Bone Mineral Density, Bone Markers, and Fractures in Adult Males with Congenital Adrenal Hyperplasia.
- 2013
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Ingår i: European journal of endocrinology / European Federation of Endocrine Societies. - 1479-683X. ; 168, s. 331-341
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Tidskriftsartikel (refereegranskat)abstract
- 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 versus overtreatment, and early versus late (>36 months) diagnosis were studied. Bone mineral density (BMD) measured by dual-energy x-ray absorptiometry (DXA) and markers of bone metabolism and androgens/17-hydroxyprogesterone levels were investigated. RESULTS: All, including older (>30 yrs), CAH patients had lower BMD in all measured sites compared to 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 to 32% in controls (≥30 yrs). Fracture frequency was similar, osteocalcin lower, and fewer patients than controls had vitamin D insufficiency. IGF-I was elevated in the milder genotypes. In patients, total body BMD was positively correlated to weight, BMI, total lean body mass, 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 versus 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.
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| 2. |
- Falhammar, Henrik, et al.
(författare)
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Cardiovascular risk, Metabolic Profile, and Body Composition in Adult Males with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
- 2011
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Ingår i: European journal of endocrinology. - 1479-683X. ; 164:1, s. 285-293
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Life-long glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males. Subjects and Methods: We compared CAH males (n=30), 19-67 years old, with age- and sex-matched controls (n=32). Subgroups of different ages (<30 years or older) and CYP21A2 genotypes (null, I2splice and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy x-ray absorptiometry (DXA), lipids, liver function tests, homocysteine, lipoprotein(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24h ambulatory blood pressure measurements were studied. Results: CAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. Gamma-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate compared to prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N. Conclusions: Indications of increased risk were found in CAH males ≥30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.
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| 3. |
- Falhammar, Henrik, et al.
(författare)
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Fertility, Sexuality and Testicular Adrenal Rest Tumors in Adult Males with Congenital Adrenal Hyperplasia.
- 2012
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Ingår i: European journal of endocrinology. - 1479-683X. ; 166, s. 441-449
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Fertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. We therefore investigated fertility/fecundity, social/sexual situation, and pituitary- gonadal function in CAH males.Subjects and methods: The patient cohort comprised 30 males with 21-hydroxylase deficiency, 19-67 yr. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n=32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes: null (severe salt wasting), I2splice (milder salt wasting), and I172N (simple virilizing) were also studied. Patients underwent testicular ultrasound examination (n=21), and semen analysis (n=14).Results: Fertility was impaired in CAH males compared to national data (0.9±1.3 vs. 1.8±0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumours (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/estradiol ratio, sperm concentration and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.Conclusions: Fertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.
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