Abnormalities in Puberty - H. Delemerre-van de Waal (Karger, 2005) WW

193 Pages·2005·2.31 MB·English

Abnormalities in Puberty

Scientific and Clinical Advances

Endocrine Development

Vol. 8

Series Editor

Martin O. Savage
London

Abnormalities in
Puberty

Scientific and Clinical Advances

Basel · Freiburg · Paris · London · New York ·
Bangalore · Bangkok · Singapore · Tokyo · Sydney

Volume Editor

Henriette A. Delemarre-van de Waal
Amsterdam

41 figures, 2 in color, and 11 tables, 2005

Prof. Dr. Henriette A. Delemarre-van de Waal
VU University Medical Center
Paediatric Endocrinology
PO Box 7057
Amsterdam, The Netherlands

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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
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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.

© Copyright 2005 by S. Karger AG, P.O. Box, CH-4009 Basel (Switzerland)
www.karger.com
Printed in Switzerland on acid-free paper by Reinhardt Druck, Basel
ISSN 1421–7082
ISBN 3–8055–7867–9

Library of Congress Cataloging-in-Publication Data

Abnormalities in puberty : scientific and clinical advances / volume editor,
Henriette A. Delemarre-van de Waal.
p. ; cm. – (Endocrine development, ISSN 1421-7082 ; v. 8)
Includes bibliographical references and indexes.
ISBN 3-8055-7867-9 (hard cover : alk. paper)
1. Pediatric endocrinology.
2. Endocrine glands–Diseases.
3. Precocious
puberty.
4. Puberty.
[DNLM: 1. Puberty, Precocious.
2. Gonadal Disorders.
3. Puberty,
Delayed.
4. Puberty. WS 450 A153 2005] I. Delemarre-van de Waal, H. A.
(Henriette A.) II. Series.
RJ418.A24 2005
618.92�4–dc22
2004026715

V

Contents

VII Foreword
Savage, M.O. (London)

IX Preface
Delemarre-van de Waal, H.A. (Amsterdam)

1 Secular Trend of Timing of Puberty
Delemarre-van de Waal, H.A. (Amsterdam)

15 Fetal Nutrition and Timing of Puberty
van Weissenbruch, M.M.; Engelbregt, M.J.T.; Veening, M.A.;
Delemarre-van de Waal, H.A. (Amsterdam)

34 Adrenal Function of Low-Birthweight Children
Ong, K. (Cambridge)

54 Puberty and Fertility in Congenital Adrenal Hyperplasia
Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.;
Hermus, A.R.M.M. (Nijmegen)

67 Molecular Genetics of Isolated Hypogonadotropic Hypogonadism
and Kallmann Syndrome
Karges, B. (Ulm); de Roux, N. (Paris)

81 Hypothalamic Hamartoma: A Paradigm/Model for Studying
the Onset of Puberty
Jung, H.; Parent, A.-S.; Ojeda, S.R. (Beaverton, Oreg.)

94 Gonadotropin-Releasing Hormone Analogue Treatment for Precocious
Puberty. Twenty Years of Experience
Heger, S.; Sippell, W.G. (Kiel); Partsch, C.-J. (Esslingen)

126 Very Long-Term Follow-Up of Girls with Early and Late Menarche
Johansson, T.; Ritzén, E.M. (Örebro)

137 Polycystic Ovary Syndrome in Adolescence.
New Insights in Pathophysiology and Treatment
Homburg, R. (Amsterdam)

150 Reversing Sex Steroid Deficiency and Optimizing Skeletal Development
in the Adolescent with Gonadal Failure
Vanderschueren, D.; Vandenput, L.; Boonen, S. (Leuven)

166 Present and Future Options for the Preservation of Fertility in
Female Adolescents with Cancer
Beerendonk, C.C.M.; Braat, D.D.M. (Nijmegen)

176 Author Index

177 Subject Index

Contents
VI

I am delighted to announce the publication of another important issue in
the Endocrine Development series. This volume presents new clinical and
scientific data on a subject of major clinical and physiological interest, namely
abnormalities of puberty. Professor Henriette A. Delemarre-van de Waal, who
has acknowledged expertise both as a clinician and basic scientist, has skillfully
assembled an impressive group of contributors. The volume includes topics of
great interest, including several that are infrequently discussed such as fetal
nutrition and timing of puberty, adrenal function in low-birth-weight children
and puberty in congenital adrenal hyperplasia.
Other subjects of direct clinical relevance are covered, such as experience
with GnRH analogue therapy, polycystic ovary syndrome, consequences of early
and late puberty, growth associated with gonadal failure and preservation of
fertility in the cancer patient. The volume is completed with several erudite yet
clearly explained chapters on the molecular genetics of Kallmann’s syndrome
and the physiology of the onset of puberty.
This is a very well balanced edition. The contents are clearly set out and
easily readable. I am confident that this worthy addition to the series will prove
of great value to pediatric and adult endocrinologists and to all health workers
concerned with puberty, the crucial phase of development and transition from
childhood to adult life.

M.O. Savage

VII

Foreword

Over recent decades new insights have been obtained surrounding the con-
cepts of the regulation of the onset of puberty. However, human puberty remains
a mystery. The mechanisms responsible for suppression and reawakening of the
GnRH pulse generator from fetal life into puberty still need to be elucidated.
However, many genetic and environmental factors have been identified modu-
lating the pubertal process.
This book on the abnormalities of puberty gives an overview on the latest
knowledge in the physiology and pathophysiology of puberty and its disorders.
Are there consequences for clinical practice on the findings of a continued
trend of an earlier puberty in the United States? What are the underlying mech-
anisms of an early puberty in adopted children? We know that early growth,
during the fetal period as well as during childhood, is able to program the
central regulatory system related to growth, adrenarche and puberty. Endocrine
and metabolic issues related to the ‘developmental origin of adult disease’
hypothesis and to the polycystic ovary syndrome are discussed. Abnormalities
in GnRH release controlling genes are reviewed. The hamartoma, secreting
GnRH, is described as a model of the onset of puberty. Experience on the appli-
cation of GnRH analogues in the treatment of central precocious puberty as
well as the psychosocial effects of an early puberty are extensively reported.
How should one treat the patient with gonadal failure with respect to bone
development in order to prevent osteoporosis in later life and what are the
future perspectives with respect to preservation of fertility in later life?
Recent clinical and fundamental data are described to give you an update
on the new views on the control of puberty. We intend to support clinicians in

IX

Preface