SUN-073 Urine Steroid Profile of Girls with Premature Adrenarche

Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

CONTEXT Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH, encoded by H6PD) cause apparent cortisone reductase deficiency (ACRD). H6PDH generates cofactor NADPH for 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1, encoded by HSD11B1) oxo-reductase activity, converting cortisone to cortisol. Inactivating mutations in HSD11B1 cause true cortisone reductase deficiency ...

Normal and Premature Adrenarche

Higher Body Fat and Lower Fat-Free Mass in Girls with Premature Adrenarche

OBJECTIVE Idiopathic premature adrenarche (PA) refers to presence of androgenic signs before the age of eight years in girls in the absence of thelarche. In children with PA, increased adrenal androgens lead to changes in body composition and transient growth acceleration. Although the association between PA and some components of the metabolic syndrome is well known, body composition has not b...

LH Dynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

Background. Excess adiposity and premature adrenarche (PA) are risk factors for the development of polycystic ovary syndrome (PCOS). Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2-8.2 years, n = 5), overweight PA (6.6-10.8 years, n = 7), and overweight premenarcheal controls (OW-PUB, 10.6-12.8 years, n = 8) underwent hormonal sl...

Clinical Study LHDynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

Background. Excess adiposity and premature adrenarche (PA) are risk factors for the development of polycystic ovary syndrome (PCOS). Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2– 8.2 years, n = 5), overweight PA (6.6–10.8 years, n = 7), and overweight premenarcheal controls (OW-PUB, 10.6–12.8 years, n = 8) underwent hormonal s...