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Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche
-
Carla Bizzarri
,
Francesca Crea
Published/Copyright:
October 2, 2012
Abstract
Precocious pubarche (PP) is defined as the onset of pubic hair at 8 years of age in girls and at 9 years of age in boys. PP is idiopathic (IPP) in most children, but it is the earliest manifestation of non-classical congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency (NC21OHD) in 5%–20% of cases. 17-Hydroxyprogesterone (17OHP) levels after ACTH stimulation test are used to distinguish the two forms. We studied clinical indicators of NC21OHD in 289 PP children: 14 (4.8%) showed post-ACTH 17OHP levels >30 nmol/L and NC21OHD due to CYP21A2 gene mutations was confirmed. NC21OHD children were younger (p: 0.006) and thinner (p: 0.003) than IPP children. Height standard deviation score (SDS) was not different (p: 0.97). NC21OHD girls showed more advanced bone age than IPP girls (p<0.001). Earlier PP onset and bone age advance suggest NC21OHD, which requires confirmation by an ACTH stimulation test. Later, PP appearance in overweight children suggests IPP and could merit only clinical monitoring.
Received: 2012-7-23
Accepted: 2012-8-31
Published Online: 2012-10-02
Published in Print: 2012-12-01
©2012 by Walter de Gruyter Berlin Boston
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- Original articles
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- Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency
- Apparent mineralocorticoid excess syndrome: report of one family with three affected children
- A decrease in fasting FGF19 levels is associated with the development of non-alcoholic fatty liver disease in obese adolescents
- Acanthosis nigricans predicts the clustering of metabolic syndrome components in Hispanic elementary school-aged children
- Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy
- Increased endothelial microparticles in obese and overweight children
- The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism
- Hyperprolactinemia in children: clinical features and long-term results
- Oxidant/antioxidant system markers and trace element levels in children with nutritional rickets
- Single-nucleotide polymorphism of the osteoprotegerin gene and its association with bone mineral density in Chinese postmenopausal women
- A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation
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