Steroid Hormone Resistance: Mechanisms and Clinical Aspects

435 Pages·1986·22.54 MB·English

by  Bert W. O’Malley, William T. Schrader, Ming-Jer Tsai (auth.), George P. Chrousos, D. Lynn Loriaux, Mortimer B. Lipsett (eds.)

STEROID HORMONE
RESISTANCE
Mechanisms and Clinical Aspects
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
Editorial Board:
NATHAN BACK, State University of New York at Buffalo
NICHOLAS R. DI LUZIO, Tulane University School of Medicine
EPHRAIM KATCHALSKI-KATZIR, The Weizmann Institute of Science
DA VID KRITCHEVSKY, Wistar Institute
ABEL LA1THA, Rockland Research Institute
RODOLFO PAOLETTI, University of Milan
Recent Volumes in this Series
Volume 189
COMPARISON OF TYPE I AND TYPE II DIABETES: Similarities and
Dissimilarities in Etiology, Pathogenesis, and Complications
Edited by Mladen Vranic, Charles H. Hollenberg, and George Steiner
Volume 190
WERNER'S SYNDROME AND HUMAN AGING
Edited by Darrell Salk, Yoshisada Fujiwara, and George M. Martin
Volume 191
OXYGEN TRANSPORT TO TISSUE VII
Edited by F. Kreuzer, S. M. Cain, Z. Turek, and T. K. Goldstick
Volume 192
MECHANISMS OF STIMULUS-RESPONSE COUPLING IN PLATELETS
Edited by 1. Westwick, M. F. Scully, D. E. Macintyre, and V. V. Kakkar
Volume 193
METHODS IN PORPHYRIN PHOTOSENSITIZATION
Edited by David Kessel
Volume 194
MYOCARDIAL AND SKELETAL MUSCLE BIOENERGETICS
Edited by Nachman Brautbar
Volume 195A
PURINE AND PYRIMIDINE METABOLISM IN MAN V, Part A: Clinical Aspects
Including Molecular Genetics
Edited by W. L. Nyhan, L. F. Thompson, and R. W. E. Watts
Volume 195B
PURINE AND PYRIMIDINE METABOLISM IN MAN V, Part B: Basic Science Aspects
Edited by W. L. Nyhan, L. F. Thompson, and R. W. E. Watts
Volume 196
STEROID HORMONE RESISTANCE: Mechanisms and Clinical Aspects
Edited by George P. Chrousos, D. Lynn Loriaux, and Mortimer B. Lipsett
A Continuation Order Plan is available for this series. A continuation order will bring delivery of each new volume
immediately upon publication. Volumes are billed only upon actual shipment. For further information please contact
the publisher.
STEROID HORMONE
RESISTANCE
Nlechanisms and Clinical Aspects
Edited by
George P. Chrousos
D. Lynn Loriaux
and
Mortimer B. Lipsett
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
PLENUM PRESS • NEW YORK AND LONDON
Library of Congress Cataloging in Publication Data
Main entry under title:
Steroid hormone resistance.
(Advances in experimental medicine and biology; v. 196)
Proceedings of a satellite symposium, sponsored by the National Institute of Child Health
and Human Development, to the Seventh International Congress of Endocrinology, held
June 28-30, 1984, in Bethesda, Md.
Includes bibliographies and index.
1. Steroid hormones-Congresses. 2. Drug resistance-Congresses. 3. Steroid hormones
-Receptors-Congresses. I. Chrousos, George P. II. Loriaux, D. Lynn. III. Lipsett,
Mortimer B. IV. National Institut of Child Health and Human Development (U.S.) V.
International Congress of Endocrinology (7th: 1984: Quebec, Quebec) VI. Series.
RC649.M378 1986 612'.4 85-23250
ISBN-13: 978-1-4684-5103-0 e-ISBN-13: 978-1-4684-5101-6
DOl: 10.1007/978-1-4684-5101-6
Proceedings of a Satellite Symposium, sponsored by the National
Institute of Child Health and Human Development, National Institutes
of Health, to the Seventh International Congress of Endocrinology, on
Mechanisms and Clinical Aspects of Steroid Hormone Resistance,
held June 28-30, 1984, in Bethesda, Maryland
© 1986 Plenum Press, New York
Softcover reprint of the hardcover 1st edition 1986
A Division of Plenum Publishing Corporation
233 Spring Street, New York, N.Y. 10013
All rights reserved
No part of this book may be reproduced, stored in a retrieval system, or transmitted
in any form or by any means, electronic, mechanical, photocopying, microfilming,
recording, or otherwise, without written permission from the Publisher
Mortimer B. Lipsett, M.D.
We dedicate this book to our teacher, colleague, and example in
life, Dr. Mortimer B. Lipsett (1921-1985).
G. P. C.
D. L. L.
PREFACE
This volume represents the first attempt to present in one
place the clinical syndromes and the pathophysiologic basis for
the "resistance states" to each of the classes of steroid hormones.
Glucocorticoids, mineralocorticoids, androgens, estrogens, progesterone
and vitamin D have widely diverse roles ranging from the control of
homeostasis to reproduction and bone formation. They are similar in
that they share a chemical structure and that their action is in
the cell nucleus where they induce transcription of specific genes
leading to synthesis of function-specific proteins.
Clinical syndromes of steroid hormone resistance to androgens
(complete and partial testicular feminization), aldosterone (pseudo
hypoaldosteronism) and vitamin D (vitamin D-dependent rickets type
II) have been known for many years. Progesterone and glucocorticoid
resistance syndromes have been described only recently. Resistance
to estrogens has not been reported in man or in animals. It is
hoped that a detailed reexamination of what is known about each of
these conditions at the clinical and molecular levels will enhance
our understanding of the function of these hormones and their
mechanisms of action. New insight and research initiatives should
result.
G.P. Chrousos
D.L. Loriaus
M.B. Lipsett
vii
ACKNOWLEDGMENTS
The contents of this volume are based in part on the proceedings of
an International Conference held in Bethesda in the summer of 1984.
This conference was sponsored by the National Institute of Child
Health and Human Development, Bethesda, Maryland.
The editors are indepted to Ms. Penny Colbert for her superb
secretarial assistance. We are grateful to Dr. Therese Loughlin
and Mr. Tom Tomai for their invaluable editorial assistance.
ix
CONTENTS
MOLECULAR ACTIONS OF STEROID HORMONES
Molecular Actions of Steroid Hormones
B. W. O'Malley, W. T. Schrader and M.-J. Tsai. • . • . 1
Steroid Receptor Activation: The Glucocorticoid Receptor
as a Model System • •• •••.•••••••. 11
G. Litwack, T. J. Schmidt, A. Miller-Diener, M. Webb,
P. Bodine, C. A. Barnett, D. Platt and R. C. Baldridge
"Defective" Receptors in Steroid-Resistant Conditions May
Be Proteolytic Artifacts • • • • • • 23
M. R. Sherman, F. B. Tuazon, Y.-W. Stevens, J. A.
Carlino, and E.-M. Niu
Characteristics and Specificity of the Glucocorticoid
"Carrier" of Rat Liver Plasma Membrane • • • • 53
A. Allera and G. S. Rao
GLUCOCORTICOID FUNCTIONS AND RESISTANCE
Mechanisms of Glucocorticoid Hormone Action .••• 67
E. P. Slater, T. Anderson, P. Cattini, R. Isaacs, M.
J. Birnbaum, D. G. Gardner, N. L. Eberhardt, and J.
D. Baxter
Glucocorticoid Physiology, Pharmacology and Stress 81
A. Munck and P. M. Guyre
Cortisol Resistance in Man • • • • • • • • • • • •• 97
M. B. Lipsett, M. Tomita, D. D. Brandon, M. M. DeVroede,
D. L. Loriaux and G. P. Chrousos
Glucocorticoid Receptors and Glucocorticoid Resistance in
Human Leukemia in Vivo and in Vitro • • • • • • • • • • 111
E. Brad Thompson and J. M. Harmon-----
xi
The New World Primates as Animal Models of Glucocorticoid
Resistance • . 129
G. P. Chrousos, D. L. Loriaux, M. Tomita, D. D. Brandon,
D. Renquist, B. Albertson, and M. B. Lipsett
MINERALOCORTICOID ACTION AND RESISTANCE
Aldosterone Receptors • • • • 145
J. W. Funder
Models of Aldosterone Action on Sodium Transport: Emerging
Concepts . . . . . . . . . . . . . . . . . . . . . . . . 153
D. Marver
Pseudohypoaldosteronism: A Review and Report of Two New
Cases •••• •••• • • • • • • • • 173
P. W. Speiser, E. Stoner and M. I. New
Animal Models of Mineralocorticoid Resistance •••• . • • • 197
W. J. Meyer, III.
ANDROGEN ACTION AND RESISTANCE
Differential Regulation of Specific Gene Expression in Mouse
Kidney by Androgens and Antiandrogens •••• • 213
J. F. Catterall, C. S. Watson, K. K. Kontula, O. A.
Janne, and C. W. Bardin
Androgen Receptors in Normal and Abnormal Male Sexual
Differentiation • • • • • • • • • • • • • • • 227
T. R. Brown and C. J. Migeon
Androgen Resistance in Man • • • • • • • • . 257
W. J. Kovacs, J. E. Griffin, and J. D. Wilson
Animal Models of Androgen Insensitivity . • • . . . 269
L. P. Bullock
High Plasma Steroid Levels in the Squirrel Monkey: Deficient
Receptors or Metabolism? • • • • • • • • • • 279
P. K. Siiteri
FEMALE SEX STEROIDS: NEW ASPECTS ON THE MECHANISM OF ACTION
AND RESISTANCE STATES
Progesterone Receptor Interaction in the 5'-Flanking
Regulatory Region of the Ovalbumin Gene • • • • • • • • 291
J. G. Compton, W. T. Schrader, and B. W. O'Malley.
xii
An Endogenous Ligand for Type II Binding Sites in Normal and
Neoplastic Tissues •••.•••. • . . • • . • • • • 305
J. H. Clark and B. M. Markaverich
Progesterone Resistance ••••••.•••••••••••• 317
G. P. Chrousos, N. J. MacLusky, D. D. Brandon, M. Tomita,
D. M. Renquist, D. L. Loriaux and M. B. Lipsett
Estrogen and Antiestrogen Resistance in Human Breast Cancer
Cell Lines . • • • • • . • • • • • • • • • • • • • 329
D. A. Bronzert, N. Davidson and M. Lippmann
Altered Estrogen Action in the Senescent Rat Uterus: A Model
for Steroid Resistance During Aging ••••• 347
G. S. Roth
VITAMIN D FUNCTIONS, CELLULAR ACTIONS AND RESISTANT STATES
The Metabolism and Functions of Vitamin D • • . • . . . . • . 361
H. F. DeLuca
1,25-Dihydroxyvitamin D3 Receptors: Altered Functional
Domains Are Associated with Cellular Resistance to
Vitamin D3 ••. • • . • • • • • • • • • • •• • • 377
J. W. Pike, E. A. Allegretto, M. A. Kelly, C. A.
Donaldson, S. L. Marion; D. J. Mangelsdorf, and M. R.
Haussler
Clinical Features of Hereditary Resistance to 1,25-Dihydroxy
vitamin D (Hereditary Hypocalcemic Vitamin D Resistant
Rickets Type II) ••••••••••••••••••• 391
U. A. Liberman, C. Eil, and S. J. Marx
The Molecular Basis for Resistance to 1,25-Dihydroxyvitamin
D: Studies in Cells Cultured from Patients with Hereditary
Hypocalcemic 1,25(OH)2D3 Resistant Rickets •••••• 407
C. Eil, U. A. Liberman, and S. J. Marx
The Common Marmoset as an Animal Model for Vitamin D-dependent
Rickets, Type II • • • • . . • • • • • • • . • • • . 423
T. Suda, N. Takahashi, T. Shinki, A. Yamaguchi, and Y.
Tanioka
INDEX • • • • • • • • • • • • • • • • • • • • • • • • • • • • 437
xiii