PMID- 20024693
OWN - NLM
STAT- MEDLINE
DCOM- 20100903
LR  - 20211020
IS  - 1432-1076 (Electronic)
IS  - 0340-6199 (Linking)
VI  - 169
IP  - 7
DP  - 2010 Jul
TI  - Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a 
      novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in 
      exon 8 in the other.
PG  - 891-4
LID - 10.1007/s00431-009-1110-1 [doi]
AB  - Congenital adrenal hyperplasia (CAH) due to steroid 11-beta hydroxylase 
      deficiency (11beta-OHD) is a rare genetic disorder of steroidogenesis transmitted 
      as an autosomal recessive trait. We describe a new case of 11beta-OHD CAH caused 
      by compound heterozygosity for a novel mutation in intron 7 and previously 
      described mutation in exon 8 of CYP 11B1 gene. A 2.5-year-old boy of Croatian 
      descent presented with accelerated growth and bone age, borderline hypertension, 
      and pseudoprecocious puberty. Hormonal studies established diagnosis of 
      11beta-OHD: elevated plasma levels of 11-deoxycortisol, 17-hydroxyprogesterone, 
      androstenedione and testosterone, low levels of cortisol and aldosterone, and 
      suppressed plasma renin activity. Sequencing of the CYP11B1 gene identified 
      compound heterozygous mutation consisting of a novel splicing mutation in intron 
      7 (IVS 7DS+4A to G) and R448H mutation in exon 8 previously reported mostly in 
      Moroccan Jews. This is the first patient with CAH due to 11beta-OHD in Croatia 
      (and Slavic population in general) in whom molecular diagnosis of CYP11B1 gene 
      was performed.
FAU - Dumic, Katja
AU  - Dumic K
AD  - Department of Medical Genetics, Children's Hospital Zagreb, School of Medicine, 
      University of Zagreb, Zagreb, Croatia. katjad2003@yahoo.com
FAU - Wilson, Robert
AU  - Wilson R
FAU - Thanasawat, Pavinee
AU  - Thanasawat P
FAU - Grubic, Zorana
AU  - Grubic Z
FAU - Kusec, Vesna
AU  - Kusec V
FAU - Stingl, Katarina
AU  - Stingl K
FAU - New, Maria I
AU  - New MI
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20091222
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - EC 1.14.15.4 (Steroid 11-beta-Hydroxylase)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*genetics
MH  - Child, Preschool
MH  - Croatia
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Steroid 11-beta-Hydroxylase/*genetics
EDAT- 2009/12/22 06:00
MHDA- 2010/09/04 06:00
CRDT- 2009/12/22 06:00
PHST- 2009/09/03 00:00 [received]
PHST- 2009/11/10 00:00 [accepted]
PHST- 2009/12/22 06:00 [entrez]
PHST- 2009/12/22 06:00 [pubmed]
PHST- 2010/09/04 06:00 [medline]
AID - 10.1007/s00431-009-1110-1 [doi]
PST - ppublish
SO  - Eur J Pediatr. 2010 Jul;169(7):891-4. doi: 10.1007/s00431-009-1110-1. Epub 2009 
      Dec 22.