title: Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation.
abstract: Males with classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency manifest appropriate secondary sexual maturation with an elevation in serum testosterone levels at pubertal age. To define the origin of serum testosterone, we evaluated a male patient with classical 3 beta-HSD who showed pubertal development. High values of testosterone and a ratio of delta(5) to delta(4) steroids in the spermatic vein indicated direct production of considerable amounts of testosterone and a persistent defect of 3 beta-HSD activity in the gonad. Immunohistochemical analysis showed distinct immunoreactivity in the Leydig cells of the patient. The patient was homozygous for a nonsense mutation in the type-II 3 beta-HSD gene. We propose that gonadal type-I 3 beta-HSD could be expressed by gonadotropin stimulation at pubertal age, and delta(4)-steroid precursors would convert to testosterone.
authors.affiliation: Department of Pediatrics, Nagasaki University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yoshimoto
authors.forename: T
authors.initials: T
authors.lastname: Kawaguchi
authors.forename: R
authors.initials: R
authors.lastname: Mori
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: T
authors.initials: T
authors.lastname: Baba
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Sasano
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D001483:Base Sequence; D001706:Biopsy; D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D005091:Exons / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011627:Puberty / Q000502:physiology*; D013256:Steroids / Q000097:blood*; D013737:Testis / Q000201:enzymology / Q000276:immunology / Q000473:pathology*; D013739:Testosterone / Q000097:blood
chemical_list: D017931:DNA Primers; D013256:Steroids; D013739:Testosterone; D004247:DNA; D015096:3-Hydroxysteroid Dehydrogenases