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      Gonadal Development and Growth in 46,XX and 46,XY Individuals with P450 scc Deficiency (Congenital Lipoid Adrenal Hyperplasia)

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          Abstract

          We have investigated gonadal development and growth in 4 individuals (3 with 46, XY and 1 with 46, XX karyotype) with P450<sub>scc</sub> deficiency. One patient died at 2 months of age from adrenal insufficiency, while the remaining 3 individuals were healthy and developed normally (age at follow-up: 18, 10 and 8 years). In the surviving individuals, the diagnosis was established during the first 2–4 months of life by extensive endocrine studies of blood and urine. In the remaining patient, the diagnosis was made on the basis of karyotype (46, XY), anatomy of internal and external genitalia and adrenal pathology. Gonadectomy was performed in the 2 surviving 46, XY individuals at the age of 7 years, and histological examination showed normal testicular morphology but very few germ cells. Postmortem examination of the testes of the 2-month-old subject showed normal testicular histology, and quantitative analysis revealed a normal number of germ cells. Ultrasound of the 46, XX individual showed normal internal female genitalia including ovaries with follicles. The 3 surviving patients grew along the 75th (46, XY), the 90th (46, XY) and the 50th percentile (46, XX), respectively. The oldest girl experienced normal breast and pubic hair development after oral estrogen replacement and topical testosterone administration. The glucocorticoid and mineralocorticoid replacement was adjusted in accordance with repeated measurements of serum sodium and serum potassium, plasma renin concentration and blood pressure. No attempts were made to normalize serum ACTH. We conclude that prenatal testicular maturation and development of female internal genitalia may take place in the absence of normal steroid hormone production. Normal growth and development may be obtained in P450<sub>scc</sub>-deficient individuals with adequate hormone replacement.

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          Author and article information

          Journal
          HRE
          10.1159/issn.0018-5051
          Hormone Research in Paediatrics
          S. Karger AG
          0018-5051
          2571-6603
          1991
          1991
          02 December 2008
          : 36
          : 5-6
          : 203-208
          Affiliations
          aUniversity Department of Growth and Reproduction, Rigshospitalet; bUniversity Department of Clinical Physiology and Nuclear Medicine, Glostrup Hospital, Copenhagen; cDepartment of Pediatrics, Kolding Hospital, Kolding; dDepartment of Pediatrics, Aalborg Hospital Nord, Aalborg, Denmark
          Article
          182162 Horm Res 1991;36:203–208
          10.1159/000182162
          69c8842d-5730-435b-b739-e126e7ed3a46
          © 1991 S. Karger AG, Basel

          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
          : 17 September 1991
          : 29 November 1991
          Page count
          Pages: 6
          Categories
          Original Paper

          Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
          Growth,Gonadal development,P450scc deficiency

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