BACKGROUND: 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased dihydrotestosterone (DHT) synthesis. AIM: To identify the specific mutations of the SRD5A2 gene in Cypriot patients with 5αSRD. SUBJECTS AND METHODS: Five unrelated patients with 46,XY karyotype were examined. Four of them were born with ambiguous genitalia and 1 patient, who was raised as girl, presented with primary amenorrhea. The hCG test was informative (elevated testosterone/DHT) of 5αSRD in 3 out of 4 subjects. Sequencing of the SRD5A2 gene was completed for all patients. Genomic DNA was also isolated from a total of 204 healthy unrelated Cypriot subjects. Screening for the IVS1-2A>G mutation was performed by using direct sequencing and restriction enzyme analysis. RESULTS: The IVS1-2A>G was identified in homozygosity in 3 patients and in a compound heterozygote state in the other 2 patients, in combination with p.P181L and p.R171S in exon 3, respectively. The carrier frequency in the Cypriot population for the IVS1-2A>G mutation was estimated to be 0.98% or 2 in 204. CONCLUSIONS: The same IVS1-2A>G mutation in the SRD5A2 gene seems to characterize all Cypriot patients with 5αSRD diagnosed so far. Furthermore this relatively rare genetic defect, which has only been reported previously in a single case in the Eastern Mediterranean region, is very likely to be the result of a founder effect.
BACKGROUND: 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased dihydrotestosterone (DHT) synthesis. AIM: To identify the specific mutations of the SRD5A2 gene in Cypriot patients with 5αSRD. SUBJECTS AND METHODS: Five unrelated patients with 46,XY karyotype were examined. Four of them were born with ambiguous genitalia and 1 patient, who was raised as girl, presented with primary amenorrhea. The hCG test was informative (elevated testosterone/DHT) of 5αSRD in 3 out of 4 subjects. Sequencing of the SRD5A2 gene was completed for all patients. Genomic DNA was also isolated from a total of 204 healthy unrelated Cypriot subjects. Screening for the IVS1-2A>G mutation was performed by using direct sequencing and restriction enzyme analysis. RESULTS: The IVS1-2A>G was identified in homozygosity in 3 patients and in a compound heterozygote state in the other 2 patients, in combination with p.P181L and p.R171S in exon 3, respectively. The carrier frequency in the Cypriot population for the IVS1-2A>G mutation was estimated to be 0.98% or 2 in 204. CONCLUSIONS: The same IVS1-2A>G mutation in the SRD5A2 gene seems to characterize all Cypriot patients with 5αSRD diagnosed so far. Furthermore this relatively rare genetic defect, which has only been reported previously in a single case in the Eastern Mediterranean region, is very likely to be the result of a founder effect.
Authors: H Belguith; S Hajji; N Salem; I Charfeddine; I Lahmar; M B Amor; K Ouldim; E Chouery; N Driss; M Drira; A Mégarbané; A Rebai; A Sefiani; S Masmoudi; H Ayadi Journal: Clin Genet Date: 2005-08 Impact factor: 4.438
Authors: Z Hochberg; R Chayen; N Reiss; Z Falik; A Makler; M Munichor; A Farkas; H Goldfarb; N Ohana; O Hiort Journal: J Clin Endocrinol Metab Date: 1996-08 Impact factor: 5.958
Authors: A E Thigpen; D L Davis; A Milatovich; B B Mendonca; J Imperato-McGinley; J E Griffin; U Francke; J D Wilson; D W Russell Journal: J Clin Invest Date: 1992-09 Impact factor: 14.808
Authors: B B Mendonca; M Inacio; E M Costa; I J Arnhold; F A Silva; W Nicolau; W Bloise; D W Russel; J D Wilson Journal: Medicine (Baltimore) Date: 1996-03 Impact factor: 1.889
Authors: F Baldinotti; S Majore; A Fogli; G Marrocco; P Ghirri; M Vuerich; S Tumini; B Boscherini; M Vetri; S Scommegna; R Rinaldi; P Simi; P Grammatico Journal: J Androl Date: 2007-07-03
Authors: V Neocleous; N Skordis; G Portides; E Efstathiou; C Costi; N Ioannou; M Pantzaris; V Anastasiadou; C Deltas; L A Phylactou Journal: J Endocrinol Invest Date: 2011-03-21 Impact factor: 4.256
Authors: Meshael M Alswailem; Ohoud S Alzahrani; Lamyaa Alghofaili; Ebtesam Qasem; Mai Almohanaa; Afaf Alsagheir; Bassam Bin Abbas; Najya A Attia; Adnan Al Shaikh; Ali S Alzahrani Journal: Endocrine Date: 2018-09-29 Impact factor: 3.633
Authors: M Rahimi; M Ghanbari; Z Fazeli; M Rouzrokh; S Omrani; R Mirfakhraie; M D Omrani Journal: J Endocrinol Invest Date: 2016-11-15 Impact factor: 4.256
Authors: Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Barbara Gorka; Ioanna Kousiappa; George A Tanteles; Michalis Iasonides; Nicolas C Nicolaides; Yiolanda P Christou; Kyriaki Michailidou; Stella Nicolaou; Savvas S Papacostas; Athanasios Christoforidis; Andreas Kyriakou; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou Journal: Front Endocrinol (Lausanne) Date: 2021-09-24 Impact factor: 5.555
Authors: P Fanis; N Skordis; S Frangos; G Christopoulos; E Spanou-Aristidou; E Andreou; P Manoli; M Mavrommatis; S Nicolaou; M Kleanthous; M A Cariolou; V Christophidou-Anastasiadou; G A Tanteles; L A Phylactou; V Neocleous Journal: J Endocrinol Invest Date: 2018-02-02 Impact factor: 4.256