Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche

Carla Bizzarri, Francesca Crea, Romana Marini, Danila Benevento, Ottavia Porzio, Lucilla Ravà, Marco Cappa

Research output: Contribution to journalArticlepeer-review

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

Original languageEnglish
Pages (from-to)1059-1064
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume25
Issue number11-12
DOIs
Publication statusPublished - Dec 2012

Keywords

  • Child
  • Congenital adrenal hyperplasia
  • Precocious pubarche

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

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