title: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.
abstract: This study aimed at the detection of HSD17B3 gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations. The study was conducted on 11 patients of 10 families which were provisionally diagnosed to have 17-β-HSD-3 enzyme deficiency. Karyotyping, hormonal evaluation of testosterone, x0394;4-androstenedione, and dihydrotestosterone, and sequencing analysis of the 11 exons of the HSD17B3 gene were done. Mutations in HSD17B3 were detected in exons 2, 7, 8, 10, and 11, and 6 novel mutations were determined in exons 1, 2, 7, and 8. Two patients showed compound heterozygous mutations, while 8 families had probands with homozygous mutations. The current study shows that 17-β-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects.
authors.affiliation: Medical Molecular Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
authors.forename: Heba Amin
authors.initials: HA
authors.lastname: Hassan
authors.forename: Inas
authors.initials: I
authors.lastname: Mazen
authors.forename: Yehia Zakaria
authors.initials: YZ
authors.lastname: Gad
authors.forename: Ola S M
authors.initials: OS
authors.lastname: Ali
authors.forename: Mona
authors.initials: M
authors.lastname: Mekkawy
authors.forename: Mona L
authors.initials: ML
authors.lastname: Essawi
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000735:Androstenedione / Q000097:blood / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D013196:Dihydrotestosterone / Q000097:blood / Q000378:metabolism; D058490:Disorder of Sex Development, 46,XY / Q000097:blood* / Q000235:genetics* / Q000378:metabolism; D004534:Egypt; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D013739:Testosterone / Q000097:blood / Q000378:metabolism; D055815:Young Adult
chemical_list: D013196:Dihydrotestosterone; D013739:Testosterone; D000735:Androstenedione; D015067:17-Hydroxysteroid Dehydrogenases; C032690:3-alpha-(17-beta)-hydroxysteroid dehydrogenase (NAD(+))