PMID- 22343390
OWN - NLM
STAT- MEDLINE
DCOM- 20121105
LR  - 20161125
IS  - 1663-2826 (Electronic)
IS  - 1663-2818 (Linking)
VI  - 77
IP  - 5
DP  - 2012
TI  - A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 
      3beta-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a 
      positive newborn screen for 21-hydroxylase deficiency.
PG  - 334-8
LID - 10.1159/000336004 [doi]
AB  - BACKGROUND: 3beta-hydroxysteroid dehydrogenase (3betaHSD) type 2 (encoded by HSD3B2) is 
      expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of 
      congenital adrenal hyperplasia '3betaHSD deficiency'. In its classic form, affected 
      individuals have salt wasting early in infancy and may have ambiguous genitalia 
      in both sexes. The presence of peripheral type 1 3betaHSD often complicates the 
      hormonal diagnosis of this disorder, in that very high 17alpha-hydroxypregnenolone 
      levels can be converted extra-adrenally to 17alpha-hydroxyprogesterone (17OHP). 
      PATIENT AND METHODS: A 46,XX female newborn with no signs of virilization was 
      referred for evaluation of positive 17OHP newborn screening, and developed a 
      salt-wasting crisis at 13 days of age. The confirmatory test revealing highly 
      elevated 17OHP suggested a 21-hydroxylase deficiency, but sequencing of the 
      CYP21A2 gene was not consistent. Further family history suggested a 3betaHSD 
      deficiency. The HSD3B2 gene was then sequenced. RESULTS: The patient was 
      homozygous for the novel nonsense mutation Q334X in the HSD3B2 gene, inherited 
      from both parents. CONCLUSIONS: We report a novel mutation of the HSD3B2 gene, 
      Q334X, responsible for a classic 3betaHSD deficiency. The clinical and hormonal 
      phenotypes can be complicated in this disorder, and this supports the benefits of 
      17OHP newborn screening to detect various forms of congenital adrenal 
      hyperplasia.
CI  - Copyright (c) 2012 S. Karger AG, Basel.
FAU - Jeandron, Debra D
AU  - Jeandron DD
AD  - Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los 
      Angeles, Keck School of Medicine, University of Southern California, Los Angeles, 
      CA, USA.
FAU - Sahakitrungruang, Taninee
AU  - Sahakitrungruang T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120209
PL  - Switzerland
TA  - Horm Res Paediatr
JT  - Hormone research in paediatrics
JID - 101525157
RN  - 0 (Codon, Nonsense)
RN  - EC 1.1.1.145 (3 beta-hydroxysteroid dehydrogenase type II)
RN  - EC 1.1.1.145 (Progesterone Reductase)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
RN  - Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/diagnosis/*genetics
MH  - Codon, Nonsense
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Neonatal Screening
MH  - Progesterone Reductase/*genetics
MH  - Steroid 21-Hydroxylase/genetics
EDAT- 2012/02/22 06:00
MHDA- 2012/11/06 06:00
CRDT- 2012/02/21 06:00
PHST- 2011/08/19 00:00 [received]
PHST- 2011/12/13 00:00 [accepted]
PHST- 2012/02/21 06:00 [entrez]
PHST- 2012/02/22 06:00 [pubmed]
PHST- 2012/11/06 06:00 [medline]
AID - 000336004 [pii]
AID - 10.1159/000336004 [doi]
PST - ppublish
SO  - Horm Res Paediatr. 2012;77(5):334-8. doi: 10.1159/000336004. Epub 2012 Feb 9.