Klinefelter’s Syndrome

243 Pages·1984·6.43 MB·English

by  H. F. Klinefelter (auth.)

Klinefelter's
Syndrome
Editors: H.-J. Bandmann and R. Breit
Co-Editor: E. Perwein
With 82 Figures and 77 Tables
Springer-Verlag
Berlin Heidelberg New York Tokyo 1984
Editors:
Professor Dr. Hans-Jiirgen Bandmann
Dr. Reinhardt Breit
Co-Editor:
Dr. Elmar Perwein
Dermatologische und Allergologische Abteilung
SUidtisches Krankenhaus Miinchen-Schwabing
Kolner Platz 1,8000 Miinchen 40, FRO
ISBN-13: 978-3-540-13267-7 e-ISBN-13: 978-3-642-69644-2
DOl: 10 .1007/97 8-3 -642-69644-2
Library of Congress Cataloging in Publication Data. Main entry under title:
Klinefelter's syndrome. Bibliography: p. Includes index. 1. Klinefelter's syn
drome-Addresses, essays, lectures. I. Bandmann, H.-J. (Hans-Jiirgen), 1923 -.
II. Breit, R. (Reinhardt) III. Perwein. E. [DNLM: 1. Klinefelter's Syndrome.
QS 677 K65] RC882.K59 1984 616'.042 84-10504
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Preface
Klinefelter's syndrome occurs relatively frequently, being diagnosed for one in
600 male infants, yet it is probably very rare that it is recognized early enough
to make effective treatment possible. Often the person afflicted does not go to
a doctor until physical and emotional disturbances have developed on the ba
sis of the syndrome. The appropriate therapy at the correct time can prevent
many of these disturbances.
In our andrology outpatient clinic we encountered Klinefelter's syndrome
almost three decades ago in patients suffering from impotentia generandi. It
was not until later that we dealt with it in our capacities as dematologists. It
was observed at a rate too high to be coincidental among younger men suffer
ing from ulcera crurum.
On the other hand, we failed to see the condition during our work as con
sultants in other specialities, especially internal medicine, although we re
peatedly attempted to identify it. We should have encountered it at least occa
sionally in our 10 years working in the Munich hospitals with their more than
4000 beds. It was this imbalance between the allegedly relative frequency of
this condition and its rare detection which led us to plan a Klinefelter sympo
sium.
We soon determined, during a first search of the literature, that there was
information in many more subject areas that we had expected or even guessed.
Finally, thirty scientists (from the fields of anthropology, biochemistry, surge
ry, dermatology (and andrology), endocrinology, genetics (and cytogenetics),
gynecology, immunology, orthodontics, clinical chemistry, pediatrics, patholo
gy, psychiatry (and child psychiatry), radiology, sexual psychology, and veteri
nary medicine) assembled in Murnau October 17-21, 1983; they came from
Australia, Austria, Denmark, Germany, Holland, Italy, Mexico, Switzerland,
the United Kingdom, and the United States.
It was a special pleasure to have Dr. Harry F. Klinefelter open the sympo
sium and to experience the knowledgeable interest with which he followed and
discussed all the developments that have taken place since his first case studies
in 1942.
Dr. G. Weiland (Organon Corporation) took care of all the preparations for
the symposium and ensured an usually harmonious and fruitful atmosphere.
We are grateful to all participants for the excellent cooperation which has
made it possible to present the results of the symposium in book form.
VI Preface
We hope that the results of this symposium will contribute to enabling Kli
nefelter patients to lead the normal and happy lives they deserve, despite their
genetic defects.
H.-J. Bandmann
R. Breit
Harry F. Klinefelter was born in Baltimore, Maryland, in 1912. Mter premedi
cal training at the University of Virginia, he received his medical degree from
the Johns Hopkins Medical School in 1937. The fifth year of his 6-year resi
dency training program at Johns Hopkins was spent in Boston, Massachusetts,
at the Massachusetts General Hospital, working under Dr. Fuller Albright as a
graduate assistant in medicine. Mter 3 years in the AUS, he began private prac
tice of internal medicine in Baltimore, where he continues to practice, affiliated
with the Johns Hopkins and Union Memorial Hospitals. He is an Associate
Professor of Medicine in the Johns Hopkins Medical School.
Reprinted for private circulation from
THE JOURNAL OF
Syndrome Characterized by Gy
CLINICAL ENDOCRINOLOGY
necomastia, Aspermatogenesis Vol. II, No. 11, November, 1942, pp. 615-627
without A-Leydigism, and In Printed in U.S.A.
creased Excretion of Follicle
Stimulating Hormone!
IT Gynecomastia]
HARRY F. KLINEFELTER, JR.,2 M.D.,
EDWARD C. REIFENSTEIN, JR., M.D. AND
FULLER ALBRIGHT, M.D.
From the Medical Service of the Massachusetts Gen
eral Hospital and the Department of Medicine of the
Harvard Medical School, Boston, Massachusetts
T
HE SYNDROME under discussion begins during patients and two additional private patients form the
adolescence and is characterized by gyneco subject of this report.
mastia and a very specific type of hypogonad
ism. This latter is almost entirely in respect to the REVIEW OF LITERATURE
function of the tubular tissue (germinal epithelium Although these cases are not uncommon, few reports
are found in the literature, and to our knowledge, no
and Sertoli cells) while the function of the Leydig
author has grouped them together as a definite clinical
cells (growth of phallus and prostate and of sexual
entity. Bedor in 1812, according to a later writer (1), de
hair) remains relatively normal. Thus one finds bilat
scribed two brothers, 21 and 24 years old, with bilateral
eral gynecomastia, small testes, aspermatogenesis, gynecomastia and small testes. Around 1840, several
evidence of normal to moderately reduced function English authors (2-5) independently described a soldier,
of the Leydig cells, increased excretion of follicle previously normal, who at the age of 53, developed small
stimulating hormone (FSH), and usually a reduced testes and gynecomastia a few months after trauma to
excretion of 17-ketosteroids. During the last 4 years, the testes. The reports of this case vary in their details
7 cases have been observed in the clinics of the but the sequence of events seems to have been as stated.
Massachusetts General Hospital; studies on these The development of gynecomastia in a previously normal
en-year-old patient a few months after mumps orchitis
1R Techeeiv eexdp efonrs ep oufb tlhiceastei osntu Adiuegs uwsats,; p, a1r9t4ly2 .d efrayed by the Com hwaavse rebpeoenrt esde vienr a,l8 7re7p (o,r)t.s D(u5-r9in) go tfh eca lsaess t w20h iyceha rpso, stshiberlye
mittee for Research in the Problems of Sex. of the National Re· fit into this syndrome. Bronstein (10) in 1939 reported
search Council and the Macy Foundation. the only case, however, in which those hormone studies
2 Travelling Fellow, Johns Hopkins University Medical School. necessary for the diagnosis were carried out. This con
Read before the TwentY1sixth Annual Meeting of the Asscl
dation for the Study of Internal Secretions, Atlantic City, N. J., cerned a 17-year-old negro with gynecomastia of 5 years'
June 9, '942. duration. The testes were very small and there was a40-
Contents
H. F. Klinefelter
Background, Recognition and Description of the Syndrome 1
E. Perwein
Incidence of Klinefelter's Syndrome ......... . 8
K. D. Zang
Genetics and Cytogenetics of Klinefelter's Syndrome 12
J. Murken and S. Stengel-Rutkowski
Klinefelter's Syndrome in Prenatal Diagnosis:
Incidence and Consequences for Genetic Counselling ......... 24
D. Knorr and J. Weil
Klinefelter's Syndrome: Diagnostic Criteria in Childhood 29
S. G. Ratcliffe
Klinefelter's Syndrome in Children - A Longitudinal Study of 47,
XXX Boys Identified by Population Screening ........... 38
E. W. Jecht, K.-H. Conrad, and O. P. Hornstein
The Clinical Appearance of Klinefelter's Syndrome 48
M. Horowitz, B. E. C. Nordin, J. Aaron, T. Steurer, R. M. Francis,
J. C. Philcox, and R. Seamark
Osteoporosis and Klinefelter's Syndrome 51
A. Barbarino, L. De Marinis, and A. Mancini
Functional Characteristics of the Hypothalamic-Pituitary Unit
in Klinefelter's Syndrome (Pituitary Hormone Release in Response
to Exogenous Estradiol . . . . . . . . . . . . . . . . . . . . . . . . . . 62
R. Breit
Lower Leg Ulcers in Klinefelter's Syndrome 71
B. Rossiwall
Taurodontism in Klinefelter's Syndrome . . 80
P. Saldana-Garcia
Dermatoglyphics of Klinefelter's Syndrome 85
X Contents
J. S. H. Tsung
Immune Competence in Patients with Klinefelter's Syndrome ...... 101
D. Alarcon-Segovia and J. Sauza
Systemic Lupus Erythematosus and Klinefelter's Syndrome 109
P. Meister
Klinefelter's Syndrome and Testicular Tumors 115
o. Scheike, J. Vis/eldt, and B. Petersen
Breast Carcinoma in Association with the Klinefelter's Syndrome 118
S. J. M. Muts-Homsma and J. P. M. Geraedts
Klinefelter's Syndrome and Leukemia: Coincidence or Association? 127
H.-J. Bandmann and E. Perwein
Histology of Testes in Klinefelter's Syndrome . . . . . 131
Chr. Sigg and Chr. Hedinger
Ultrastructure of the Testis in Klinefelter's Syndrome 137
W.-B. Schill, R. Strasser, F. Krassnigg, W. Muller-Ester!, and E. Fink
Spermatological Investigations in Men with Klinefelter's Syndrome 147
H.-J. Vogt
Sexual Behavior in Klinefelter's Syndrome 163
J. Nielsen and K. S@rensen
The Importance of Early Diagnosis of Klinefelter's Syndrome 170
J. Martinius
Psychiatric Aspects of Klinefelter's Syndrome in Adolescence 188
A. Roy
Psychiatric Disorders in Relation to Klinefelter's Syndrome 192
E. Nieschlag
Testosterone Substitution Therapy .................... 202
G. W. Rieck
XXY Syndrome in Domestic Animals:
Homologues to Klinefelter's Syndrome in Man .212
Subject Index ............... 224
List of Contributors
J. Aaron
MRC Mineral Metabolism Unit, The General Infirmary,
Leeds, United Kingdom
D. Alarcon-Segovia
Department of Immunology and Rheumatology, Instituto Nacional de la
Nutricion Salvador Zubinin, Calle Vasco de Quiroga 15, Delegacion Tlalpan,
Mexico, D. F. 14000, Mexico
H. J. Bandmann
Dermatologische und Allergologische Abteilung, Stadtisches Krankenhaus
Miinchen-Schwabing, Keilner Platz 1, 8000 Miinchen 40, Federal Republic of
Germany
A. Barbarino
Institute of Internal Medicine, Division of Endocrinology, The Catholic
University School of Medicine, Largo A. Gemelli 8, 00168 Rome, Italy
R. Breit
Dermatologische und Allergologische Abteilung, Stadtisches Krankenhaus
Miinchen-Schwabing, Keilner Platz 1, 8000 Miinchen 40, Federal Republic of
Germany
K.-H. Conrad
Dermatologische Klinik und Poliklinik der Universitat Erlangen-Niirnberg,
Hartmannstrasse 14, 8520 Erlangen, Federal Republic of Germany
E. Fink
Abteilung fUr Klinische Chemie und Klinische Biochemie, Universitat Miinchen,
Nussbaumstra,sse 20, 8000 Miinchen 2, Federal Republic of Germany
R. M. Francis
MRC Mineral Metabolism Unit, The General Infirmary,
Leeds, United Kingdom
J. P. M. Geraedts
Department of Internal Medicine, Division of Haematology, Leiden University
Hospital, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
XII List of Contributors
C. Hedinger
Institut fUr Pathologie der UniversiHit Zurich, Schmelzbergstrasse 12,
8091 Zurich, Switzerland
o. P. Hornstein
Dermatologische Klinik und Poliklinik der Universitat Erlangen-Nurnberg,
Hartmannstrasse 14,8520 Erlangen, Federal Republic of Germany
M. Horowitz
Department of Endocrinology, Royal Adelaide Hospital, North Terrace,
Adelaide 5000, South Australia, Australia
E. W. Jecht
Dermatologische Klinik und Poliklinik der Universitat Erlangen-Nurnberg,
Hartmannstrasse 14,8520 Erlangen, Federal Republic of Germany
H. F. Klinefelter
550 North Broadway, Baltimore, MD 21205, USA
D. Knorr
Kinderklinik der Universitat Munchen, Dr. von Haunersches Kinderspital,
Lindwurmstrasse 4, 8000 Munchen 2, Federal Republic of Germany
F. Krassnigg
Dermatologische Klinik und Poliklinik der Universitat Miinchen,
Frauenlobstrasse 9-11, 8000 Munchen 2, Federal Republic of Germany
A. Mancini
Institute of Internal Medicine, Division of Endocrinology, The Catholic
University School of Medicine, Largo A. Gemelli 8, 00168 Rome, Italy
L. De Marinis
Institute of Internal Medicine, Division of Endocrinology, The Catholic
University School of Medicine, Largo A. Gemelli 8, 00168 Rome, Italy
J. Martinius
Max-Planck-Institut fUr Psychiatrie, Kraepelinstrasse 10, 8000 Miinchen 40,
Federal Republic of Germany
P. Meister
Institut fUr Pathologie, Stadtisches Krankenhaus Munchen-Harlaching,
Akademisches Lehrkrankenhaus, Sanatoriumsplatz 2, 8000 Miinchen 90,
Federal Republic of Germany
W. Miiller-Esterl
Abteilung fUr Klinische Chemie und Klinische Biochemie, Universitat Munchen,
Nussbaumstrasse 20, 8000 Munchen 2, Federal Republic of Germany
J. Murken
Abteilung fUr Padiatrische Genetik, Kinderpoliklinik der Universitat Miinchen,
Goethestrasse 29, 8000 Munchen 2, Federal Republic of Germany
S. J. M. Muts-Homsma
Department of International Medicine, Division of Haematology, Leiden
University Hospital, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands