Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

Falhammar, Henrik; Nyström, Helena Filipsson; Ekström, Urban; Granberg, S.; Wedell, Anna; Thorén, Marja

doi:10.1530/eje-11-0828

Cited by 150 publications

(162 citation statements)

References 31 publications

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“…Indeed, TARTs were found only in patients with CF CAH. Nevertheless, a recent study highlighted the presence of TARTs in two patients with NCF CAH (33). This should be confirmed in the future by other groups, because none of our eight males with NCF exhibited TARTs.…”

Section: Discussionsupporting

confidence: 69%

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

Bachelot¹,

Golmard²,

Jérôme³

et al. 2015

European Journal of Endocrinology

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Aim: Adverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established. Objective: To establish the prevalence of adverse outcomes and to find determining factors for each of them. Design, patients, and methods: Cross-sectional monocentric study of 104 patients with childhood onset of CAH (71 women, 33 men). Analysis established first the determinants of clinical, hormonal, genetic variables and second a composite criterion for some of the outcomes and determinants. Results: BMI was above 25 kg/m 2 in 44% of the cohort, adrenal hyperplasia and/or nodules were present in 45% of the patients, and irregular menstrual cycles and hyperandrogenism were found in 50 and 35% of the women respectively. In univariate analysis, the determinants of these outcomes were all linked to disease control, especially 17-hydroxyprogesterone (17OHP) and androstenedione concentrations. Low weight was a determinant of abnormal bone mineral density (BMD) (60% of the cohort). Multivariate analysis confirmed these data. A classic form (CF) of CAH was a determinant of testicular adrenal rest tumors (TARTs) (36% of the men). Total cumulative glucocorticoid dose was a determinant of BMI and TART, whereas fludrocortisone dose was a determinant of TART (PZ0.03). In men, the composite criterion was associated with androstenedione concentration and CF. In women, the composite criterion was associated with total testosterone concentration. Conclusion:The present study confirms the high prevalence of adverse outcomes in CAH patients. These are, most often, related to disease control. The impaired health status of adults with CAH could therefore be improved through the modification of treatment.

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Section: Discussionsupporting

confidence: 69%

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

Bachelot¹,

Golmard²,

Jérôme³

et al. 2015

European Journal of Endocrinology

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“…Male controls, one for each patient and born on the same date as each patient, were recruited from the National Population Registry. Characteristics of this cohort have been reported earlier (25,26).…”

Section: Subjectsmentioning

confidence: 99%

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

Falhammar

Nyström

Wedell

et al. 2013

European Journal of Endocrinology

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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 (nZ30), 19-67 years old, with age-and sex-matched controls (nZ32). Subgroups of CYP21A2 genotypes, age, glucocorticoid preparation, poor control vs overtreatment, and early vs late (O36 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 (O30 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 (R30 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.

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“…In congenital adrenal hyperplasia (CAH), a classic model of prenatal androgen excess in humans, excess androgen production by the fetal adrenal gland leads to androgenization of female fetuses, leading to a series of consequences during postnatal life (Nimkarn et al 2009). Males with CAH have also been found to manifest perturbations in gametogenesis and metabolic disorders (Cabrera et al 2001, New 2001, Reisch et al 2009, Falhammar et al 2012.…”

Section: Introductionmentioning

confidence: 99%

Pituitary and testis responsiveness of young male sheep exposed to testosterone excess during fetal development

Recabarren¹,

Rojas-García²,

Einspanier³

et al. 2013

Reproduction

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Prenatal exposure to excess testosterone induces reproductive disturbances in both female and male sheep. In females, it alters the hypothalamus-pituitary-ovarian axis. In males, prenatal testosterone excess reduces sperm count and motility. Focusing on males, this study tested whether pituitary LH responsiveness to GNRH is increased in prenatal testosterone-exposed males and whether testicular function is compromised in the testosterone-exposed males. Control males (nZ6) and males born to ewes exposed to twice weekly injections of 30 mg testosterone propionate from days 30 to 90 and of 40 mg testosterone propionate from days 90 to 120 of gestation (nZ6) were studied at 20 and 30 weeks of age. Pituitary and testicular responsiveness was tested by administering a GNRH analog (leuprolide acetate). To complement the analyses, the mRNA expression of LH receptor (LHR) and that of steroidogenic enzymes were determined in testicular tissue. Basal LH and testosterone concentrations were higher in the testosterone-exposed-males. While LH response to the GNRH analog was higher in the testosterone-exposed males than in the control males, testosterone responses did not differ between the treatment groups. The testosterone:LH ratio was higher in the control males than in the testosterone-exposed males of 30 weeks of age, suggestive of reduced Leydig cell sensitivity to LH in the testosterone-exposed males. The expression of LHR mRNA was lower in the testosterone-exposed males, but the mRNA expression of steroidogenic enzymes did not differ between the groups. These findings indicate that prenatal testosterone excess has opposing effects at the pituitary and testicular levels, namely increased pituitary sensitivity to GNRH at the level of pituitary and decreased sensitivity of the testes to LH.

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Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

Cited by 150 publications

References 31 publications

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

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

Pituitary and testis responsiveness of young male sheep exposed to testosterone excess during fetal development

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