title: 17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
abstract: 17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) converts delta4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17betaHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17betaHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del_GATAACC). Our patient had one of the very rare mutations, which was previously unencountered in Turkish patients with 17betaHSD type 3, and she is the second reported case with this deletion.
authors.affiliation: Hacettepe University Faculty of Medicine, Division of Pediatric Endocrinology, Ankara, 06100 Turkey. ayfera@hacettepe.edu.tr
authors.forename: Ayfer
authors.initials: A
authors.lastname: Alikasifoglu
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.forename: Nazli
authors.initials: N
authors.lastname: Gonc
authors.forename: Huseyin
authors.initials: H
authors.lastname: Demirbilek
authors.forename: Emregul
authors.initials: E
authors.lastname: Isik
authors.forename: Nurgun
authors.initials: N
authors.lastname: Kandemir
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency / Q000235:genetics*; D058489:46, XX Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D005260:Female; D017353:Gene Deletion; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D011627:Puberty / Q000235:genetics
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3