Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant
Standard
Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant. / Hoehn, Thomas; Lukacs, Zoltan; Huckenbeck, Wolfgang; Torresani, Toni; Blankenstein, Oliver; Bounnack, Saysanasongkham.
In: J TROP PEDIATRICS, Vol. 62, No. 2, 04.2016, p. 158-60.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant
AU - Hoehn, Thomas
AU - Lukacs, Zoltan
AU - Huckenbeck, Wolfgang
AU - Torresani, Toni
AU - Blankenstein, Oliver
AU - Bounnack, Saysanasongkham
N1 - © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
PY - 2016/4
Y1 - 2016/4
N2 - 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.
AB - 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.
KW - 17-alpha-Hydroxyprogesterone
KW - Adrenal Hyperplasia, Congenital
KW - Alleles
KW - Humans
KW - Infant, Newborn
KW - Laos
KW - Molecular Biology
KW - Mutation
KW - Neonatal Screening
KW - Predictive Value of Tests
KW - Steroid 21-Hydroxylase
KW - Case Reports
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.1093/tropej/fmv078
DO - 10.1093/tropej/fmv078
M3 - SCORING: Journal article
C2 - 26721550
VL - 62
SP - 158
EP - 160
JO - J TROP PEDIATRICS
JF - J TROP PEDIATRICS
SN - 0142-6338
IS - 2
ER -
