title: 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.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Children's Hospital Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia. katjad2003@yahoo.com
authors.forename: Katja
authors.initials: K
authors.lastname: Dumic
authors.forename: Robert
authors.initials: R
authors.lastname: Wilson
authors.forename: Pavinee
authors.initials: P
authors.lastname: Thanasawat
authors.forename: Zorana
authors.initials: Z
authors.lastname: Grubic
authors.forename: Vesna
authors.initials: V
authors.lastname: Kusec
authors.forename: Katarina
authors.initials: K
authors.lastname: Stingl
authors.forename: Maria I
authors.initials: MI
authors.lastname: New
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002675:Child, Preschool; D017523:Croatia; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
chemical_list: D013252:Steroid 11-beta-Hydroxylase