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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. AIM: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.

journal_name

J Trop Pediatr

journal_title

Journal of tropical pediatrics

authors

Hoehn T,Lukacs Z,Huckenbeck W,Torresani T,Blankenstein O,Bounnack S

doi

10.1093/tropej/fmv078

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

158-60

issue

2

eissn

0142-6338

issn

1465-3664

pii

fmv078

journal_volume

62

pub_type

杂志文章

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