title: Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
abstract: BACKGROUND
  Current clinical practice is to evaluate children presenting with premature adrenarche (PA) for non-classical congenital adrenal hyperplasia (NC-CAH). Our main objective was to assess the prevalence of NC-CAH among children presented with PA. Additional objectives were to ascertain whether subpopulations were prone to NC-CAH, and therefore justified to be tested, and if obesity is a factor that can exclude the need for CAH testing.
  
  
  METHODS
  A retrospective chart review of all children ≤11 years, who presented to our clinic with PA between January 2012 and May 2015 (n=103) was conducted. PA was defined based on commonly accepted clinical criteria.
  
  
  RESULTS
  We did not identify any subjects with NC-CAH but one was affected with previously undiagnosed classical simple virilizing CAH (SV-CAH). The subject was born prior to the implementation of CAH newborn screening in the state of birth. The affected subject was of Middle Eastern origin and also obese (BMI >95 percentile for age and sex).
  
  
  CONCLUSIONS
  Undiagnosed CAH is an uncommon cause of PA, and therefore routine screening for NC-CAH in every case of PA may not be justified, although, perhaps, should still be considered in high risk ethnicities. Obesity does not appear to exclude the possibility of being affected with mild or NC-CAH.
authors.forename: Bryan A
authors.initials: BA
authors.lastname: Ghanny
authors.forename: Sonali
authors.initials: S
authors.lastname: Malhotra
authors.forename: Shilpa
authors.initials: S
authors.lastname: Kumta
authors.forename: Irina
authors.initials: I
authors.lastname: Kazachkova
authors.forename: Peter
authors.initials: P
authors.lastname: Homel
authors.forename: Elka
authors.initials: E
authors.lastname: Jacobson-Dickman
authors.forename: Roja
authors.initials: R
authors.lastname: Motaghedi
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000378:metabolism*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism; D050499:Adrenarche; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D011379:Prognosis; D011629:Puberty, Precocious / Q000150:complications*; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D019326:17-alpha-Hydroxyprogesterone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase