title: Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.
abstract: BACKGROUND
  Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss.
  
  
  OBJECTIVE
  To predict presence or absence of salt loss in newborn infants with CAH.
  
  
  METHODS
  The first specimen of suspected CAH in samples sent from People's Democratic Republic of Laos (Lao PDR) was investigated for known mutations in CAH associated with salt loss.
  
  
  RESULTS
  Molecular genetic diagnosis revealed mutations associated with loss of function in both alleles; however, the infant was clinically unaffected even without any corticosteroid substitution therapy.
  
  
  CONCLUSIONS
  Although molecular genetic methods can theoretically predict loss of function in CAH, our infant was clinically unaffected even without therapy at 6 years of age. We speculate that in CAH, remaining enzyme activity can be sufficiently high, despite the presence of loss of function mutations, which do not affect infants clinically.
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Neonatology and Pediatric Intensive Care Medicine, Heinrich-Heine-University, Duesseldorf 40225, Germany thomas.hoehn@uni-duesseldorf.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Hoehn
authors.affiliation: Newborn Screening and Metabolic Diagnostics, Hamburg University Medical Center, Hamburg 20246, Germany.
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Lukacs
authors.affiliation: Institute for Forensic Medicine, Duesseldorf 40225, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Huckenbeck
authors.affiliation: Children's Hospital, Zurich 8032, Switzerland.
authors.forename: Toni
authors.initials: T
authors.lastname: Torresani
authors.affiliation: Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Blankenstein
authors.affiliation: Ministry of Health, Vientiane, Laos.
authors.forename: Saysanasongkham
authors.initials: S
authors.lastname: Bounnack
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D000483:Alleles; D006801:Humans; D007231:Infant, Newborn; D007812:Laos; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening; D011237:Predictive Value of Tests; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D019326:17-alpha-Hydroxyprogesterone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase
keywords: 17-hydroxy-progesterone; CYP21A2 gene; Laos; congenital adrenal hyperplasia; neonatal screening