Pubertal Changes in Testicular 3β-Hydroxysteroid Dehydrogenase Activity in a Male with Classical 3β-Hydroxysteroid Dehydrogenase Deficiency Showing Spontaneous Secondary Sexual Maturation

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Males with classical 3β-hydroxysteroid dehydrogenase (3β-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 3β-HSD who showed pubertal development. High values of testosterone and a ratio of Δ5 to Δ4 steroids in the spermatic vein indicated direct production of considerable amounts of testosterone and a persistent defect of 3β-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 3β-HSD gene. We propose that gonadal type-I 3β-HSD could be expressed by gonadotropin stimulation at pubertal age, and Δ4-steroid precursors would convert to testosterone.

Related collections

Author and article information

Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 1997

Publication date (Print): 1997

Publication date (Electronic): 10 December 2008

Volume: 48

Issue: 2

Pages: 83-87

Affiliations

^aDepartment of Pediatrics, Nagasaki, University School of Medicine, Nagasaki; ^bDepartment of Pediatrics, Hokkaido University School of Medicine, Sapporo, and ^cDepartment of Pathology, TohokuUniversity School of Medicine, Sendai, Japan

Article

Publisher ID: 185492 Other ID: Horm Res 1997;48:83–87

DOI: 10.1159/000185492

PubMed ID: 9251925

SO-VID: 0430e9de-40f5-4fdf-9d80-f51030be930a

License:

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 28 May 1996

Date accepted : 25 November 1996

Page count

Pages: 5

Comments

Comment on this article

scite_

Cited by 4

See all cited by