Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction.
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Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
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Is basal serum 17-OH progesterone a reliable parameter to predict nonclassical congenital adrenal hyperplasia in premature adrenarche?
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To determine the critical features for the diagnosis of nonclassical 21 hydroxylase deficiency (NC210HD) without performing adrenocorticotropic hormone (ACTH) test, we studied 186 cases with premature adrenarche. Clinical and laboratory features as well as basal 17-hydroxyprogesterone (17-OHP) were analyzed to determine factors important for differentiating NC21OHD. Overall, 6 patients (3.2%) had ACTH-stimulated 17-OHP > 10 ng/ml. A cutoff level of 2 ng/ml for basal 17-OHP was 66.7% sensitive and 78% specific for NC21OHD; however, a cutoff level of 1.55 ng/ml had higher sensitivity (83%) and specificity (70.6%). A cutoff of 1.55 ng/ml would lead to 31% of cases with premature adrenarche having to undergo ACTH test, and only one case would have been missed. That case had a bone age SDS > 2. Three cases out of five with a basal 17-OHP > 5 ng/ml had stimulated 17-OHP < 10 ng/ml. A cutoff of 1.55 ng/ml for basal 17-OHP together with bone SDS > 2 in those with lower basal levels as a guide for carrying out an ACTH test may yield better results in the diagnosis of NC21OHD in the premature adrenarche population. A cutoff of 5 ng/ml for basal 17-OHP should not be used for diagnosis of NC21OHD. (+info)
Neuropsychological functioning in girls with premature adrenarche.
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Retinol-binding protein 4 correlates with triglycerides but not insulin resistance in prepubertal children with and without premature adrenarche.
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BACKGROUND: Retinol-binding protein 4 (RBP4) has been proposed as an early marker for insulin resistance (IR), but no prior studies have addressed RBP4 in an exclusively prepubertal population. Children with premature adrenarche (PA) are at increased risk for IR and metabolic syndrome (MeS); thus finding an appropriate early marker for IR in this population would allow for early intervention and prevention of morbidity related to IR and MeS. OBJECTIVE: To determine whether prepubertal children with PA have higher levels of RBP4 than controls and whether RBP4 correlates with comorbidities of metabolic disease in prepubertal children. SUBJECTS: This study comprised 49 prepubertal children (24 with PA and 25 control subjects), 20 boys and 29 girls, who were between the ages of 5 and 9 years. METHODS: This was a cross-sectional, case-control study conducted in a subspecialty ambulatory clinic based in a quaternary care center. RBP4 levels, hormonal values, lipids, and response to an oral glucose tolerance test were evaluated in children with PA and controls, and body composition measures were obtained in a subset of patients (n = 18). RESULTS: RBP4 correlated with triglycerides (r = 0.57, p < 0.0001) but did not correlate with IR in a body mass index z-score-adjusted Pearson correlation analysis. There was no difference in RBP4 levels between the PA and control groups. CONCLUSIONS: These findings suggest that RBP4 may be an early marker of dyslipidemia, which may herald future onset of hepatic IR, polycystic ovary syndrome, and MeS. (+info)