Klinefelter’s Syndrome: From a Disabling Condition to a Variant of Normalcy

229 Pages·2020·5.49 MB·English

by  Andrea Garolla, Giovanni Corona

Trends in Andrology and Sexual Medicine
Series Editors: A. Lenzi · C. Foresta · E. A. Jannini · M. Maggi
Andrea Garolla
Giovanni Corona
Editors
Klinefelter’s
Syndrome
From a Disabling Condition
to a Variant of Normalcy
Trends in Andrology and Sexual Medicine
Series Editors
Andrea Lenzi
Chair of Endocrinology, Department of Experimental Medicine,
Section of Medical Pathophysiology, Food Science and Endocrinology
Sapienza University of Rome
Roma, Italy
Carlo Foresta
Chair of Endocrinology, Department of Medicine, Unit of Andrology
and Reproductive Medicine
University of Padova
Padova, Italy
Emmanuele A. Jannini
Chair of Endocrinology & Medical Sexology (ENDOSEX),
Department of Systems Medicine
University of Rome Tor Vergata
Roma, Italy
Mario Maggi
Chair of Endocrinology, Department of Experimental, Clinical
and Biomedical Sciences, Andrology and Sexual Medicine Unit
University of Florence
Florence, Italy
This series will serve as a comprehensive and authoritative resource that presents
state of the art knowledge and practice within the fields of Andrology and Sexual
Medicine, covering basic science and clinical and psychological aspects. Each
volume will focus on a specific topic relating to reproductive or sexual health, such
as male and female sexual disorders (from erectile dysfunction to vaginismus, and
from hypoactive desire to ejaculatory disturbances), diagnostic issues in infertility
and sexual dysfunction, and current and emerging therapies (from assisted
reproduction techniques to testosterone supplementation, and from PDE5i to SSRIs
for premature ejaculation). In addition, selected new topics not previously covered
in a single monograph will be addressed, examples including male osteoporosis and
the approach of traditional Chinese medicine to sexual medicine. Against the
background of rapid progress in Andrology and Sexual Medicine, the series will
meet the need of readers for detailed updates on new discoveries in physiology and
pathophysiology and in the therapy of human sexual and reproductive disorders.
More information about this series at http://www.springer.com/series/13846
Andrea Garolla • Giovanni Corona
Editors
Klinefelter’s Syndrome
From a Disabling Condition
to a Variant of Normalcy
Editors
Andrea Garolla Giovanni Corona
Unit of Andrology and Reproductive Endocrinology Unit
Medicine Ospedale Maggiore
University of Padua Bologna
Padua Italy
Italy
ISSN 2367-0088 ISSN 2367-0096 (electronic)
Trends in Andrology and Sexual Medicine
ISBN 978-3-030-51409-9 ISBN 978-3-030-51410-5 (eBook)
https://doi.org/10.1007/978-3-030-51410-5
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NOI
Noi siamo NOI
così simili a voi.
Fatti di carne,
di sangue e di anima.
Vogliamo che guardandoci
vediate voi stessi.
Che nel capirci complessi
ci vogliate completi.
Individui che nascono
e crescono accanto a voi,
Noi Klinefelter.
WE
We are US
so similar to you.
Meat made,
blood and soul.
We want you to look at us
see for yourself.
That in understanding complexes
you want us complete.
Individuals born
and grow next to you,
We Klinefelter.
© Maurizio Fornasari.
Preface
Klinefelter syndrome (KS), both mosaic and non-mosaic forms, is the most frequent
genetic condition with reproductive consequences that can be diagnosed initially or
in childhood, adolescence, and adulthood. In relation to its great clinical variability,
in many cases it even remains undiagnosed. Only a few decades ago, this condition
was strongly associated with sterility, but more recently, parenthood options for KS
have broadened significantly. Despite in recent decades it has become obvious that
such a goal is highly unlikely with traditional therapy, fertility is often possible
using assisted fertility techniques. Furthermore, a newer understanding of the syn-
drome instructs us to early recognize the affected patients and when to normalize
the hormone imbalance, preventing health problems and improving quality of life.
The impact of a comprehensive approach to KS brings to consider this condition as
a variant of normal. However, additional conditions that may be associated with the
syndrome such as obesity, reduced bone density, sexual or psychomotor abnormali-
ties, and developmental dyspraxia represent concerns that induced to refuse this
normal variant concept in the past.
The clinical andrologist has a key role in the diagnosis, management, treatment,
and follow-up of KS. However, other specialists such as pediatricians, geneticists,
psychiatrists, endocrinologists, psychologists, and speech therapists have central
roles in particular conditions. In the current international literature, a book consider-
ing all the clinical aspects of KS is missing. Therefore, the Klinefelter Italian Group
(KING) of the Italian Society of Andrology and Sexual Medicine (SIAMS), sup-
ported by the Springer books, asked to prominent Italian experts of the main spe-
cialties committed in KS, to develop a textbook using most recent available evidence.
Editors, Andrea Garolla, coordinator of KING, and Giovanni Corona, president of
SIAMS, included all the topics featured by experts in KS in this book. They consid-
ered epidemiology, counseling to family and patients, genetic and epigenetic fac-
tors, developmental problems, psychological features, fertility problems and
preservation, sexual function, and possible comorbidities such as osteoporosis, obe-
sity, dyslipidemia, altered glucose metabolism, thyroid dysfunction, cancer risk,
cardiovascular problems, and strategies of management and treatment from birth to
adulthood. Finally, they strongly wanted the presence of KS patients in the book and
vii
viii Preface
included at the start a poetry depicting the feelings of an affected subject. Special
thanks to all the authors and collaborators for their strong efforts and fruitful col-
laboration and for harmoniously integrating their competence.
Padova, Italy Carlo Foresta
Andrea Garolla
Contents
1 Introduction: From a Disabling Condition to a Variant
of Normalcy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Andrea Garolla
2 Epidemiology of an Underdiagnosed Syndrome . . . . . . . . . . . . . . . . . . 5
Marco Zavattaro, Lorenzo Marinelli, Giovanna Motta,
and Fabio Lanfranco
3 Causes of Extra Chromosome(s) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11
Savina Dipresa and Andrea Garolla
4 Different Karyotypes, Same Disease? . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Daniele Gianfrilli, Francesco Carlomagno, Francesca Sciarra,
and Francesco Lombardo
5 Genetic and Epigenetic Aspects of the Supernumerary X
Chromosome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25
Marco Bonomi, Giovanni Goggi, and Biagio Cangiano
6 Prenatal Counselling and Management in the Early
Neonatal Period . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Emanuele Ferrante, Paola Vizziello, Claudia Giavoli,
Lorenzo Colombo, and Faustina Lalatta
7 Early Developmental Pathways and Communication
Good Practices . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47
Gaia Silibello, Francesca Dall’Ara, Paola Francesca Ajmone,
Federico Monti, and Laura Zampini
8 The Diagnosis of Klinefelter Syndrome at
Prepubertal Age. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 57
Mario Mancini
9 The Pediatric Management of Klinefelter Syndrome: What to Do
and When from Infancy to Puberty . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67
Luigi Tarani, Natascia Liberati, Valentina Paolucci, Federica Pirro,
Ilaria Molinaro, Giovanni Parlapiano, Debora Rasio,
Antonella Esposito, and Diego De Angelis
ix
x Contents
10 Klinefelter Syndrome: From a Disabling Condition to a Variant
of Normalcy: Neuropsychiatric Aspects . . . . . . . . . . . . . . . . . . . . . . . . . 77
Michele Fabrazzo
11 Testicular Development . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
Aldo E. Calogero, Rosita A. Condorelli, and Sandro La Vignera
12 The Klinefelter Puberty . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Domenico Milardi, Giuseppe Grande, and Alfredo Pontecorvi
13 Genetic of Gametes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 101
Marica Franzago and Liborio Stuppia
14 Phenotype of the Adulthood . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109
Sara De Vincentis and Vincenzo Rochira
15 Hypothalamic–Pituitary Axis Function . . . . . . . . . . . . . . . . . . . . . . . . . 121
Marco Mazzella, Cristina de Angelis, Davide Menafra, Francesco
Garifalos, Rosario Ferrigno, Annamaria Colao, and Rosario
Pivonello
16 Klinefelter Syndrome: The Altered Bone . . . . . . . . . . . . . . . . . . . . . . . . 135
Letizia Chiara Pezzaioli, Andrea Delbarba, Filippo Maffezzoni,
Paolo Facondo, Carlo Cappelli, and Alberto Ferlin
17 Obesity: The Rule or Not . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
Marco Castellana, Simon Chang, Filippo Procino,
Giovanni De Pergola, Vincenzo Triggiani, and Vito Angelo Giagulli
18 Lipids and Glucose Metabolism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 155
Angelo Cignarelli, Sebastio Perrini, and Francesco Giorgino
19 Klinefelter Syndrome: Cardiovascular Characteristics . . . . . . . . . . . . 163
Franz Sesti, Riccardo Pofi, and Andrea M. Isidori
20 The Thyroid Function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 167
Melissa Cutini, Giancarlo Balercia, Gianmaria Salvio,
and Daniela Pasquali
21 Oncological Problems . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 173
Alessandro Pizzocaro, Liborio Vaccalluzzo, and Walter Vena
22 Fertility Preservation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181
Arcangelo Barbonetti, Settimio D’Andrea, Maria Totaro,
Antonio Parisi, Pietro Salacone, and Sandro Francavilla
23 Fertility Versus Infertility . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191
Marco Ghezzi, Antonio Aversa, and Andrea Garolla