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Defects of the Testosterone Biosynthetic Pathway in Boys With Hypospadias

1997; Lippincott Williams & Wilkins; Volume: 157; Issue: 5 Linguagem: Inglês

10.1016/s0022-5347(01)64893-6

1527-3792

Ian A. Aaronson, Murat A. Cakmak, Lyndon L. Key,

Urologic and reproductive health conditions

No AccessJournal of UrologyPediatric Urology1 May 1997Defects of the Testosterone Biosynthetic Pathway in Boys With Hypospadias Ian A. Aaronson, Murat A. Cakmak, and Lyndon L. Key Ian A. AaronsonIan A. Aaronson More articles by this author , Murat A. CakmakMurat A. Cakmak More articles by this author , and Lyndon L. KeyLyndon L. Key More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)64893-6AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We determined the incidence of defects in 3 enzymes, namely 3 beta-hydroxysteroid dehydrogenase, 17 alpha-hydroxylase and 17,20-lyase, on the testosterone biosynthetic pathway in boys with hypospadias. Materials and Methods: We evaluated 30 boys with a 46,XY karyotype, fully descended testes and penoscrotal or proximal shaft hypospadias. Serum concentrations of the metabolites mediated by these enzymes were measured, from which the precursor-to-product ratios were calculated. Seven patients underwent adrenocorticotropic hormone stimulation. Findings were compared to previously published data on age matched normal boys. Results: A total of 11 boys had evidence of impaired function of 3 beta-hydroxysteroid dehydrogenase alone or in combination with impaired 17,20-lyase or 17 alpha-hydroxylase activity. An additional 4 boys had evidence of isolated 17,20-lyase deficiency. Thus, of the 30 boys studied 15 (50%) had evidence of a testosterone biosynthetic defect. The effect of adrenocorticotropic hormone stimulation varied with widening of the precursor-to-product ratios in some boys and narrowing in others. Conclusions: A high incidence of 3 beta-hydroxysteroid dehydrogenase and 17,20-lyase deficiency was found in boys with proximal hypospadias. 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Link, Google Scholar From the Departments of Urology and Pediatrics, Medical University of South Carolina, Charleston, South Carolina.© 1997 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byPohl H, Joyce G, Wise M and Cilento B (2018) Cryptorchidism and HypospadiasJournal of Urology, VOL. 177, NO. 5, (1646-1651), Online publication date: 1-May-2007.Feyaerts A, Forest M, Morel Y, Mure P, Morel-Journel N, Mallet D, Nicolino M, Chatelain P, David M and Mouriquand P (2018) Endocrine Screening in 32 Consecutive Patients with HypospadiasJournal of Urology, VOL. 168, NO. 2, (720-725), Online publication date: 1-Aug-2002.KOJIMA Y, HAYASHI Y, MIZUNO K, MOGAMI M, SASAKI S and KOHRI K (2018) SPERMATOGENESIS, FERTILITY AND SEXUAL BEHAVIOR IN A HYPOSPADIAC MOUSE MODELJournal of Urology, VOL. 167, NO. 3, (1532-1537), Online publication date: 1-Mar-2002.BOEHMER A, NIJMAN R, LAMMERS B, DE CONINCK S, VAN HEMEL J, THEMMEN A, MUREAU M, DE JONG F, BRINKMANN A, NIERMEIJER M and DROP S (2018) ETIOLOGICAL STUDIES OF SEVERE OR FAMILIAL HYPOSPADIASJournal of Urology, VOL. 165, NO. 4, (1246-1254), Online publication date: 1-Apr-2001.Husmann D (2018) EDITORIAL: MICROPHALLIC HYPOSPADIAS-THE USE OF HUMAN CHORIONIC GONADOTROPIN AND TESTOSTERONE BEFORE SURGICAL REPAIRJournal of Urology, VOL. 162, NO. 4, (1440-1441), Online publication date: 1-Oct-1999. Volume 157Issue 5May 1997Page: 1884-1888 Advertisement Copyright & Permissions© 1997 by American Urological Association, Inc.MetricsAuthor Information Ian A. Aaronson More articles by this author Murat A. Cakmak More articles by this author Lyndon L. Key More articles by this author Expand All Advertisement PDF downloadLoading ...