title: 5 alpha steroid reductase deficiency in Turkey.
abstract: 5 alpha steroid reductase 2 (5 alpha SR2) deficiency is an autosomal recessive enzyme defect causing male pseudohermaphroditism (MPH) because of an abnormally low peripheral conversion of testosterone to dihydrotestosterone (DHT), which is required for the normal differentiation of external male genitalia. The present report describes the distribution of 5 alpha steroid reductase gene mutations in the Turkish population in the light of published reports from different centers. Eight Turkish patients from unrelated Turkish families and a large pedigree of one of these patients are also discussed. These patients were followed up at Ankara University Department of Pediatric Endocrinology. The presence of Leu 55 Gln mutation in six patients out of 8 indicates the increased prevalence of this mutation in the Turkish population with different presentations. One patient out of six (patient FG) had a large pedigree of Leu 55 Gln mutation in exon 1. The pedigree of this family with marital consanguinity was very remarkable and extraordinary. A further 85 members of this family were analyzed for exon 1 Leu 55 Gln 5 alpha SR2 gene mutations. Forty two out of the 85 subjects (49.41% ) had this alteration in gene mutation. Thirty-one of them were heterozygous (18 genetic male, 13 genetic female) and 11 of them were homozygous (8 genetic male, 3 asymptomatic female carriers) for this mutation. A trinucleotid deletion at straddling codons 156 and 157 is responsible for a methionize residue at position 157 (delta Met 157) of 5 alpha SR type 2 gene which was first described in our patient NA. Two additional Turkish patients were reported by different investigators with this rare mutation and this also suggests an increased prevalence of this mutation in the Turkish population. In conclusion Leu 55 Gln mutation in exon 1 seems to be a hot spot in Turkish patients. Hence 5 alpha SR2 gene mutation analysis especially Leu 55 Gln mutation in exon 1 and delta Met 157 in exon 3, must be evaluated in Turkish patients with male pseudohermaphroditism according to our results and other Turkish patients reported by different investigators. It is important that homozygous asymptomatic female carriers be taken into consideration in this clinical entity especially in closed populations because of the risk of carrying the disease to their offspring.
authors.affiliation: Ankara University Faculty of Medicine, Division of Pediatric Endocrinology and Pediatric Molecular Genetics, Ankara, Turkey. plnblradymn@yahoo.com
authors.forename: Pelin Bilir
authors.initials: PB
authors.lastname: Adiyaman
authors.forename: Gonul
authors.initials: G
authors.lastname: Ocal
authors.forename: Ergun
authors.initials: E
authors.lastname: Cetinkaya
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
authors.forename: Ali
authors.initials: A
authors.lastname: Uysal
authors.forename: Turker
authors.initials: T
authors.lastname: Duman
authors.forename: Olcay
authors.initials: O
authors.lastname: Evliyaoğlu
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Serge
authors.initials: S
authors.lastname: Lumbroso
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014421:Turkey
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase