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Practical clinial endocrinology

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Matthew P. Lungren
Michael R.B. Evans
Editors

Practical
ClinicalMedicine
Clinical
Endocrinology
Covertemplate
Subtitle
for
Peter Igaz
Clinical
Editor Medicine Covers T3_HB
Second Edition

1123
3
2


Practical Clinical Endocrinology


Peter Igaz
Editor

Practical Clinical
Endocrinology



Editor

Peter Igaz
2nd Department of Internal Medicine,
Faculty of Medicine
Semmelweis University
Budapest, Hungary
ENETS Center of Excellence
Semmelweis University
Budapest, Hungary
Department of Endocrinology,
Department of Internal Medicine and Oncology,
Faculty of Medicine
Semmelweis University
Budapest, Hungary
MTA-SE Molecular Medicine Research Group,
Hungarian Academy of Sciences and Semmelweis University
Budapest, Hungary

ISBN 978-3-030-62010-3    ISBN 978-3-030-62011-0 (eBook)
/>© Springer Nature Switzerland AG 2021
This work is subject to copyright. All rights are reserved by the Publisher, whether the
whole or part of the material is concerned, specifically the rights of translation, reprinting,
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The use of general descriptive names, registered names, trademarks, service marks, etc. in
this publication does not imply, even in the absence of a specific statement, that such
names are exempt from the relevant protective laws and regulations and therefore free for

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The publisher, the authors, and the editors are safe to assume that the advice and
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Neither the publisher nor the authors or the editors give a warranty, expressed or implied,
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maps and institutional affiliations.
This Springer imprint is published by the registered company Springer Nature Switzerland
AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland


V

Preface
Endocrinology is a fascinating field of medicine. It is very versatile and
stimulating. Practicing endocrinology promotes our abilities in differential diagnosis and complex thinking.
This book of endocrinology aims to give the reader an overall and
deep presentation of contemporary endocrine practice. In order to
highlight its practical approach, diseases are presented via endocrine
cases where the questions and pitfalls in diagnosis and treatment are
discussed similar to real life experiences. Moreover, an unconventional
question-­answer format is used where the most important features of
the diseases are underlined as questions.
As the book focuses on the practice, that is, symptoms, diagnosis, differential diagnosis, and treatment issues related to a wide variety of
endocrine diseases, only minimal theory of endocrinology is included
wherever it aids comprehension. This book is therefore designed for
those who have some basic knowledge in endocrinology.
Practical Clinical Endocrinology is dedicated primarily to adult endocrinology; however, some important endocrine diseases from childhood
that are certainly continued to be treated in adults, for example, congenital adrenal hyperplasia, are also discussed.

The book is comprised of seven parts along the most important
endocrine organs – Part 1: Diseases of the Pituitary and the Hypothalamus; Part 2: Diseases of the Thyroid; Part 3: Diseases of the Parathyroid and Metabolic Bone Diseases; Part 4: Diseases of the Adrenal; Part
5: Diseases of the Gonads; Part 6: Neuroendocrine Tumors and Paraneoplastic Endocrine Syndromes; and Part 7: Multiple Endocrine Neoplasia Syndromes. There are 52 chapters in the book that aim to cover
the most common diseases in endocrinology. Apart from the most
important and most common endocrine diseases, many rare but interesting diseases (e.g., hormone resistance syndromes) are also discussed.
In addition to chronic diseases that constitute the major part of endocrinology, important emergency conditions and complications such as
thyroid storm, adrenal crisis, and the management of hormone-related
electrolyte disturbances are also discussed.
The book contains 117 figures and 107 tables to facilitate understanding.
Who can find this book useful? The book is meant for a broad audience, but first of all to medical residents in training and preparing for a
board exam in internal medicine and/or endocrinology. Moreover, this
book can also be useful for established specialists in endocrinology or
internal medicine to deepen or refresh their knowledge. The book can
also be interesting to university students, most notably the chapters on
common diseases from which exam questions are frequently prepared.
Some questions from the book can even be asked and therefore be interesting both for students and examiners.


VI

Preface

I do really hope that this book represents a novel way of learning and
refreshing our knowledge in endocrinology and the reader will find it
interesting.
Last but not least, I would like to thank all the authors for their devotion to make this book, which I hope was worth the efforts.
Peter Igaz

Budapest, Hungary
2020



VII

Contents
I

Diseases of the Pituitary and Hypothalamus

1

Prolactinoma �����������������������������������������������������������������������������������������������������������������  3
Beatrix Sármán

2

Acromegaly������������������������������������������������������������������������������������������������������������������� 15
Judit Dénes and Erika Hubina

3

Cushing’s Disease ����������������������������������������������������������������������������������������������������� 25
Sabina Zacharieva and Ivayla Uzunova

4

Non-functioning Pituitary Adenoma��������������������������������������������������������� 35
Sabina Zacharieva and Atanaska Elenkova

5


Craniopharyngioma ����������������������������������������������������������������������������������������������� 49
Réka Kollár and Nikolette Szücs

6

Hypopituitarism��������������������������������������������������������������������������������������������������������� 55
Nikolette Szücs

7

 allmann Syndrome (Hypogonadotropic
K
Hypogonadism) ��������������������������������������������������������������������������������������������������������� 65
Nikolette Szücs

8

Hypophysitis����������������������������������������������������������������������������������������������������������������� 71
Sandra Pekic, Dragana Miljic, Marko Stojanovic,
Frédérique Albarel, Jean-Francois Bonneville, and Vera Popovic

9

Diabetes Insipidus ��������������������������������������������������������������������������������������������������� 89
Eleonora Seelig and Jonas Rutishauser

10

 yndrome of Inappropriate Antidiuretic

S
Hormone Secretion (SIADH, SIAD) and the
Clinical Management of Hyponatremia��������������������������������������������������� 99
Ivica Lazúrová


VIII

Contents

II

Diseases of the Thyroid

11

Hypothyroidism and Hashimoto’s Thyroiditis�������������������������������������115
Peter Reismann

12

Graves’ Disease and Hyperthyroidism �����������������������������������������������������127
Peter Reismann

13

Thyroid Storm �������������������������������������������������������������������������������������������������������������139
Gabor Laszlo Kovacs

14


Endocrine Orbitopathy�����������������������������������������������������������������������������������������149
Endre V. Nagy

15

Thyroid Nodule and Multinodular Goiter�����������������������������������������������157
Tamas Solymosi

16

Subacute (de Quervain’s) Thyroiditis���������������������������������������������������������171
Peter Reismann

17

Amiodarone-Induced Thyroiditis �����������������������������������������������������������������179
Endre V. Nagy and Miklós Bodor

18

Differentiated Thyroid Cancer�������������������������������������������������������������������������183
Emese Mezősi

19

Medullary Thyroid Cancer ���������������������������������������������������������������������������������195
Géza Nagy

20


Thyroid Hormone Resistance���������������������������������������������������������������������������205
Luca Persani and Irene Campi

21

 yper- and Hypothyroidism in Pregnancy,
H
Postpartum Thyroiditis�����������������������������������������������������������������������������������������217
Miklós Bodor

III

Diseases of the Parathyroid and
Metabolic Bone Diseases

22

Primary Hyperparathyroidism �����������������������������������������������������������������������229
Judit Tőke


Contents

23

IX

Hypoparathyroidism ���������������������������������������������������������������������������������������������239
Szilvia Mészáros


24

Osteoporosis�����������������������������������������������������������������������������������������������������������������249
Csaba Horvath

25

Osteomalacia ���������������������������������������������������������������������������������������������������������������261
Csaba Horvath

IV

Diseases of the Adrenal

26

Adrenal Incidentaloma�����������������������������������������������������������������������������������������275
Prerna Dogra and Irina Bancos

27

Adrenal Cushing’s Syndrome���������������������������������������������������������������������������289
Peter Igaz

28

Primary Aldosteronism�����������������������������������������������������������������������������������������297
Teresa Maria Seccia


29

Secondary Aldosteronism ���������������������������������������������������������������������������������309
Károly Pócsai, Csaba Sumánszki, and Judit Tőke

30

Adrenocortical Cancer�������������������������������������������������������������������������������������������319
Massimo Terzolo and Soraya Puglisi

31

 ddison’s Disease and Autoimmune Polyendocrine
A
Syndrome Type 2�������������������������������������������������������������������������������������������������������327
Abel Decmann and Peter Igaz

32

Salt Wasting 21-Hydroxylase Deficiency�������������������������������������������������337
Dóra Tưrưk and Judit Tőke

33

Simple Virilizing 21-Hydroxylase Deficiency���������������������������������������345
Dóra Tưrưk and Judit Tőke

34

Late-Onset 21-Hydroxylase Deficiency ���������������������������������������������������353

Peter Igaz

35

17α-Hydroxylase/17, 20-­Lyase Deficiency���������������������������������������������359
Peter Igaz


X

Contents

36

Glucocorticoid Resistance ���������������������������������������������������������������������������������367
Nicolas C. Nicolaides and Evangelia Charmandari

37

Pheochromocytoma �����������������������������������������������������������������������������������������������373
Letizia Canu, Giuseppina De Filpo, and Massimo Mannelli

38

Malignant Paraganglioma ���������������������������������������������������������������������������������383
Andrea Uhlyarik and Peter Igaz

V
39


Diseases of the Gonads
Polycystic Ovary Syndrome�������������������������������������������������������������������������������391
Carmen E. Georgescu

40

Turner Syndrome�������������������������������������������������������������������������������������������������������405
Judit Major and Peter Igaz

41

Primary Ovarian Insufficiency�������������������������������������������������������������������������413
Attila Molvarec

42

Klinefelter Syndrome���������������������������������������������������������������������������������������������419
Nikolette Szücs

43

Complete Androgen Insensitivity Syndrome���������������������������������������425
Monika Grymowicz, Ewa Rudnicka, Katarzyna Smolarczyk,
Roman Smolarczyk, Anna Szeliga, Agnieszka Podfigurna,
and Błażej Męczekalski

VI

Neuroendocrine Tumors and
Paraneoplastic Endocrine Syndromes


44

 arcinoid Syndrome Caused by a Small Intestinal
C
Neuroendocrine Tumor����������������������������������������������������������������������������������������435
Peter Igaz

45

 ctopic ACTH Syndrome Caused by a Bronchial
E
Neuroendocrine Tumor����������������������������������������������������������������������������������������447
Géza Nagy

46

Insulinoma���������������������������������������������������������������������������������������������������������������������459
Gerlies Treiber and Peter Igaz


Contents

47

XI

Factitious Hypoglycemia�������������������������������������������������������������������������������������467
Peter Igaz


48

Gastrinoma �������������������������������������������������������������������������������������������������������������������471
Kira Oleinikov, Arie Ariche, Simona Ben-Haim,
Karine Atlan, and Simona Grozinsky-Glasberg

49

Humoral Hypercalcemia of Malignancy���������������������������������������������������481
Júlia Lohinszky and Andrea Uhlyarik

VII Multiple Endocrine Neoplasia Syndromes
50

Multiple Endocrine Neoplasia Type 1��������������������������������������������������������491
Aleksandra Gilis-Januszewska, Malgorzata Trofimiuk-Müldner,
Anna Skalniak, and Alicja Hubalewska-Dydejczyk

51

Multiple Endocrine Neoplasia Type 2��������������������������������������������������������505
Peter Igaz

52

Von Hippel–Lindau Syndrome �����������������������������������������������������������������������515
Peter Igaz







Supplementary Information
Appendix ��������������������������������������������������������������������������������������������������������������������522
Index������������������������������������������������������������������������������������������������������������������������������525


Contributors
Frédérique  Albarel, MD  Aix-Marseille Université, Institut National de la
Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical
Genetics (MMG), Marseille, France
Assistance Publique-Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de
l’hypophyse HYPO, 13005, Marseille, France
Arie Ariche, MD  Department of Surgery, Hadassah-Hebrew University Medical
Center, Jerusalem, Israel
Karine  Atlan, MD  Department of Pathology, Hadassah-Hebrew University
Medical Center, Jerusalem, Israel
Irina  Bancos, MD  Division of Endocrinology, Diabetes, Metabolism, and
Nutrition, Mayo Clinic, Rochester, MN, USA

Simona Ben-Haim, MD  Department of Nuclear Medicine, Hadassah-­Hebrew
University Medical Center, Jerusalem, Israel
Institute of Nuclear Medicine, University College Hospitals, NHS Trust,
London, UK
Miklós Bodor, MD, PhD  Department of Clinical Pharmacology, University of
Debrecen, Debrecen, Hungary
Division of Endocrinology, Department of Medicine, Faculty of Medicine,
University of Debrecen, Debrecen, Hungary


Jean-Francois Bonneville, MD, PhD  Professeur Invité, CHU de Liège14, Chemin des Rochets, Fontain, France
Irene Campi, MD, PhD  Department of Endocrine and Metabolic Diseases &
Lab of Endocrine and Metabolic Research, San Luca Hospital, IRCCS Istituto
Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan,
Milan, Italy

Letizia Canu, MD, PhD  Department of Experimental and Clinical Biomedical
Sciences, University of Florence, Florence, Italy
Evangelia  Charmandari, MD, MSc, PhD, MRCP(UK), CCT(UK)  Division of
Endocrinology, Metabolism and Diabetes, First Department of Pediatrics,
National and Kapodistrian University of Athens Medical School ‘Aghia Sophia’
Children’s Hospital, Athens, Greece
Division of Endocrinology and Metabolism, Center of Clinical, Experimental
Surgery and Translational Research, Biomedical Research Foundation of the
Academy of Athens, Athens, Greece


Contributors

XIII

Abel Decmann, MD, PhD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis
University, Budapest, Hungary

Judit Dénes, MD, PhD  2nd Department of Internal Medicine, Military Hospital
Medical Centre, Budapest, Hungary
Prerna Dogra, MBBS  Division of Endocrinology, Diabetes, Metabolism, and

Nutrition, Mayo Clinic, Rochester, MN, USA
Atanaska Elenkova, MD  Department of Endocrinology, Faculty of Medicine,
Medical University, Sofia Bulgaria, Sofia, Bulgaria
Expert Center of Rare Endocrine Diseases - Sofia, Sofia, Bulgaria
Giuseppina De Filpo, MD  Department of Experimental and Clinical Biomedical
Sciences, University of Florence, Florence, Italy
Carmen E. Georgescu, MD, PhD, Dr habil  Department of Endocrinology, Iuliu
Hațieganu University of Medicine and Pharmacy, Cluj-Napoca, ­Romania
Endocrinology Clinical Unit, Cluj County Emergency Hospital, Cluj-­Napoca,
Romania

Aleksandra  Gilis-Januszewska, MD, PhD  Department of Endocrinology,
Jagiellonian University, Medical College, Krakow, Poland
Simona  Grozinsky-Glasberg, MD  Neuroendocrine Tumor Unit, Endocrinology and Metabolism Department, Hadassah-Hebrew University Medical
Center, Jerusalem, Israel
ENETS Center of Excellence, Hadassah-Hebrew University Medical Center,
Jerusalem, Israel
Monika Grymowicz, MD, PhD  Department of Gynecological Endocrinology,
Medical University of Warsaw, Faculty of Medicine, Warsaw, Poland
Csaba Horvath, MD, PhD, DSc  Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary

Alicja  Hubalewska-Dydejczyk, MD, PhD  Department of Endocrinology,
Jagiellonian University, Medical College, Krakow, Poland

Erika Hubina, MD, PhD  2nd Department of Internal Medicine, Military Hospital
Medical Centre, Budapest, Hungary

Peter Igaz, MD, MSc, PhD, DSc  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary

ENETS Center of Excellence, Semmelweis University, Budapest, Hungary


XIV

Contributors

Department of Endocrinology, Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary
MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences
and Semmelweis University, Budapest, Hungary

Réka Kollár, MD  2nd Department of Internal Medicine, Faculty of Medicine,
Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis
University, Budapest, Hungary

Gabor  Laszlo  Kovacs, MD, PhD  1st Department of Internal Medicine, Flor
Ferenc Hospital, Kistarcsa, Hungary

Ivica  Lazúrová, MD, PhD, DSc, FRCP  1st Department of Internal Medicine,
Medical Faculty, P.J. Šafárik University Košice, Košice, Slovakia

Júlia Lohinszky, MD  2nd Department of Internal Medicine, ENETS Center of
Excellence, Faculty of Medicine, Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Hematology, Faculty of Medicine,
Semmelweis University, Budapest, Hungary
Judit  Major, MD  2nd Department of Internal Medicine, Csolnoky Ferenc
County Hospital, Veszprém, Hungary


Massimo Mannelli, MD  Department of Experimental and Clinical Biomedical
Sciences, University of Florence, Florence, Italy

Błażej  Męczekalski, MD, PhD  Department of Gynecological Endocrinology,
Poznan University of Medical Sciences, Faculty of Medicine, Poznan, Poland

Szilvia Mészáros, MD, PhD  Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary

Emese Mezősi, MD PhD  Division of Endocrinology and Metabolic Disorders,
1st Department of Internal Medicine, University of Pécs, Pécs, Hungary
Szentagothai Research Centre, University of Pécs, Pécs, Hungary

Dragana Miljic, MD, PhD  Medical Faculty, University of Belgrade, Belgrade,
Serbia
Clinic for Endocrinology, Diabetes and Diseases of Metabolism, Clinical
Center of Serbia, Belgrade, Serbia


Contributors

XV

Attila  Molvarec, MD, PhD, DSc  Department of Obstetrics and Gynecology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary

Endre  V.  Nagy, MD, PhD, DSc  Division of Endocrinology, Department of
Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary

Géza Nagy, MD, PhD  2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary

Department of Internal Medicine and Hematology, Faculty of Medicine,
Semmelweis University, Budapest, Hungary

Nicolas C. Nicolaides, MD, PhD  Division of Endocrinology, Metabolism and
Diabetes, First Department of Pediatrics, National and Kapodistrian University
of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
Division of Endocrinology and Metabolism, Center of Clinical, Experimental
Surgery and Translational Research, Biomedical Research Foundation of the
Academy of Athens, Athens, Greece

Kira  Oleinikov, MD  Neuroendocrine Tumor Unit, Endocrinology and
Metabolism Department, Hadassah-Hebrew University Medical Center,
Jerusalem, Israel
ENETS Center of Excellence, Hadassah-Hebrew University Medical Center,
Jerusalem, Israel

Sandra Pekic, MD, PhD  Medical Faculty, University of Belgrade, Belgrade, Serbia
Clinic for Endocrinology, Diabetes and Diseases of Metabolism, Clinical
Center of Serbia, Belgrade, Serbia
Luca  Persani, MD, PhD  Department of Medical Biotechnology & Translational Medicine, University of Milan, Milan, Italy
Department of Endocrine & Metabolic Diseases, IRCCS Istituto Auxologico
Italiano, Milan, Italy
Károly  Pócsai, MD, PhD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis
University, Budapest, Hungary

Agnieszka Podfigurna, MD, PhD  Department of Gynecological Endocrinology,
Poznan University of Medical Sciences, Faculty of Medicine, Poznan, Poland
Vera  Popovic, MD, PhD, FRCP  Medical Faculty, University of Belgrade,

Belgrade, Serbia



XVI

Contributors

Soraya  Puglisi, MD  Division of Internal Medicine, Department of Clinical
and Biological Sciences, San Luigi Hospital, University of Turin, Orbassano,,
Turin, Italy
Peter Reismann, MD, PhD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary
Department of Endocrinology, Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary

Ewa Rudnicka, MD, PhD  Department of Gynecological Endocrinology, Medical
University of Warsaw, Faculty of Medicine, Warsaw, Poland
Jonas Rutishauser, MD  Division of Endocrinology, Diabetes and Metabolism,
University Hospital, Basel, Switzerland

Beatrix Sármán, MD, PhD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Hematology, Faculty of Medicine,
Semmelweis University, Budapest, Hungary

Teresa Maria Seccia, MD, PhD  Department of Internal Medicine – DIMED,
University of Padua, Padova, Italy

Eleonora Seelig, MD  Division of Endocrinology, Diabetes and Metabolism,

University Hospital, Basel, Switzerland
Anna Skalniak, PhD, MSc  Department of Endocrinology, Jagiellonian University,
Medical College, Krakow, Poland
Katarzyna Smolarczyk, MD, PhD  Department of Dermatology and Venerology,
Medical University of Warsaw, Faculty of Medicine, Warsaw, Poland
Roman Smolarczyk, MD, PhD  Department of Gynecological Endocrinology,
Medical University of Warsaw, Faculty of Medicine, Warsaw, Poland
Tamas Solymosi, MD, PhD  Thyroid Department, Bugát Hospital, Gyöngyös,
Hungary

Marko  Stojanovic, MD, PhD  Medical Faculty, University of Belgrade,
Belgrade, Serbia
Clinic for Endocrinology, Diabetes and Diseases of Metabolism, Clinical
Center of Serbia, Belgrade, Serbia
Csaba  Sumánszki, MD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary


Contributors

XVII

Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis
University, Budapest, Hungary
Anna  Szeliga, MD  Department of Gynecological Endocrinology, Poznan
University of Medical Sciences, Faculty of Medicine, Poznan, Poland
Nikolette Szücs, MD, PhD  2nd Department of Internal Medicine, Faculty of
Medicine, Semmelweis University, Budapest, Hungary
Department of Endocrinology, Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary


Massimo Terzolo, MD  Division of Internal Medicine, Department of Clinical
and Biological Sciences, San Luigi Hospital, University of Turin, Orbassano,
Turin, Italy

Judit Tőke, MD, PhD  2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
Department of Endocrinology, Department of Internal Medicine and Oncology,
Faculty of Medicine, Semmelweis University, Budapest, Hungary

Dóra  Török, MD, PhD  2nd Department of Pediatrics, Faculty of Medicine,
Semmelweis University, Budapest, Hungary

Gerlies Treiber, MD  Department of Internal Medicine, Division for Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

Malgorzata  Trofimiuk-Müldner, MD, PhD  Department of Endocrinology,
Jagiellonian University, Medical College, Krakow, Poland
Andrea Uhlyarik, MD  2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
ENETS Center of Excellence, Semmelweis University, Budapest, Hungary
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Budapest, Hungary

Ivayla  Uzunova, MD  Department of Endocrinology, Faculty of Medicine,
Medical University, Sofia, Bulgaria
Expert Centre of Rare Endocrine Diseases, Sofia, Bulgaria
Sabina Zacharieva, MD, PhD, DMedSci  Department of Endocrinology, Faculty
of Medicine, Medical University, Sofia, Bulgaria
Expert Center of Rare Endocrine Diseases, Sofia, Bulgaria


About the Editor
Peter Igaz

is full professor of medicine and endocrinology at the
Semmelweis University in Budapest, Hungary. He
began working at the 2nd Department of Internal Medicine in 1997 after finishing his medical studies, where
he cleared board exams in internal medicine, endocrinology, and clinical genetics. Besides his medical degree,
Dr. Igaz has degrees also in molecular biology and law.
From July 2016 till May 2020, he was the director of the
2nd Department of Medicine, since 2017 as full professor. Since May 2020, due to the restructuring of Semmelweis University, he is heading the Department of
Endocrinology at the Department of Internal Medicine
and Oncology.
He was awarded a PhD in 1999 and the Doctor of
Sciences title by the Hungarian Academy of Sciences in
2013. His clinical activity in endocrinology is broad, but
his primary clinical interests are focused on adrenal diseases, neuroendocrine tumors, and multiple endocrine
neoplasia syndromes. Under his leadership, the 2nd
Department of Internal Medicine was awarded the title
of Center of Excellence by ENETS (European Neuroendocrine Tumor Society) in 2019, and Dr. Igaz serves as a
co-head of the center. In research, Dr. Igaz is dealing
mainly with genomics, non-coding RNAs, and microRNAs in endocrine (mostly adrenal) tumors. His research
group was among the first to describe the microRNA
profiles of adrenocortical and adrenomedullary tumors
and they identified novel potential markers for diagnosis. Novel pathogenic pathways were also revealed by the
genomics studies performed by his group. Dr. Igaz has
over 150 scientific papers. Since 2017, he is also heading
the Molecular Medicine Research Group of the Hungarian Academy of Sciences and Semmelweis University.
Dr. Igaz has supervised seven PhD students to date, and
six of them have already been awarded the PhD degree.
Prior to editing this book, he edited two books for
Springer in the Experientia Supplementum Book Series:
Circulating microRNAs in Disease Diagnostics and Their
Biological Relevance (2015) and, together with Prof.

Attila Patócs as co-editor, Genetics of Endocrine Diseases and Syndromes (2019).


XIX

Abbreviations
5-HIAA

5-hydroxyindolacetic acid

17-OH-progesterone
or 17-OHP17-hydroxyprogesterone
21-OHD

21-hydroxylase deficiency

25-OH-D or 25(ΟΗ)D  25 hydroxyvitamin D
AAdrenaline
A/CAldosterone to cortisol ratio in adrenal venous
sampling
AC
Atypical carcinoid
ACC
Adrenocortical cancer
ACEIAngiotensin converting enzyme inhibitor
ACTHAdrenocorticotropic hormone/adrenocorticotropin
ADAndrostenedione
ADH
Antidiuretic hormone
ADHDAttention deficit hyperactivity disorder

AE
Androgen excess
AFC
Antral follicle count
AGEAdvanced glycosylation end products
AI
Adrenal incidentaloma
AIPAryl hydrocarbon receptor interacting protein
AIS
Androgen insensitivity
AMHAnti-Müllerian hormone
APAAldosterone producing adenoma
APSAutoimmune polyendocrine syndrome
AR
Androgen receptor
ARBAngiotensin receptor blocker
ARRAldosterone-to-renin ratio
ASTAndrogen-secreting tumor
ATAAmerican Thyroid Association
AVSAdrenal venous sampling
aTGAnti-thyroglobulin antibody
aTPO or anti-TPOAnti thyroid peroxidase antibody
AVP
Arginine vasopressin
AVSAdrenal venous sampling
AVPR2Arginine vasopressin type 2 receptor
BA
Bilateral adrenalectomy
BAHBilateral adrenal hyperplasia
βHCGHuman chorionic gonadotropin β

BHOB
β-hydroxy-butyrate
BIPSSBilateral inferior petrosal sinus sampling
BMAHBilateral macronodular adrenal hyperplasia
BMD
Bone mineral density
BMI
Body mass index
BWPSBurch-Wartofsky point scale


XX

Abbreviations

CACatecholamine
CaCrCRCreatinine clearance ratio
CAHCongenital adrenal hyperplasia
CAISComplete androgen insensitivity syndrome
CAPTEMCapecitabine-temozolomide
CASClinical activity score (for endocrine orbitopathy)
CaSRCalcium-sensing ­receptor
CD
Cushing’s disease
CECTContrast-enhanced computed tomography
COCCombined oral contraceptive
CgA
Chromogranin A
CNS
Central nervous system

CPA
Cyproterone acetate
CPMCentral pontine myelinolysis
CRHCorticotropin releasing hormone
CS
Cushing’s syndrome
CSF
Cerebrospinal fluid
CSWSCerebral salt wasting syndrome
CT
Computed tomography
CYP11B1Cortisol synthase gene (11β-hydroxylase type 1)
CYP11B2Aldosterone synthase gene (11β-hydroxylase type 2)
CYP1717α-hydroxylase/17,20 lyase gene
CYP21A221-hydroxylase gene
DADopamine
DDAVPDesmopressin, desamino-8D-arginine ­vasopressin
DHEADehydroepiandrosterone
DHEAS
Dehydroepiandrosterone sulfate
DI
Diabetes insipidus
DIDMOAD syndromeDiabetes insipidus, diabetes mellitus, optic atrophy,
deafness
DRC
Direct renin concentration
DSD
Disorder of sex development
DST
Dexamethasone suppression test

DT
Doubling time
DTC
Differentiated thyroid cancer
DXA
Dual-energy X-ray absorptiometry
DXMDexamethasone
DxWBS
Diagnostic whole-body scan
E2Estradiol
EBRT
External beam radiation therapy
ECFV
Extracellular fluid volume
ECLEnterochromaffin-like
eGFR
Estimated glomerular filtration rate
ENSATEuropean Network for the Study of Adrenal Tumors
EO
Endocrine orbitopathy
EPM
Extrapontine myelinolysis
ER
Endoplasmic reticulum
ESE
European Society for Endocrinology


Abbreviations


ESR
ETA
ETE
EUS

XXI

Erythrocyte sedimentation rate
European Thyroid Association
extrathyroidal extension
Endoscopic ultrasound

18FDG-PET-CT
18Fluoro-deoxyglucose

FGF-23
FHA
FHH
FIPA
FNA
FNAB
FNAC
FRAX
FSG
FSH
FT
fT4
fT3
FTC


positron emission
computed tomography
Fibroblast growth factor-23
Functional hypothalamic amenorrhea
Familial hypocalciuric hypercalcemia
Familial isolated pituitary adenoma
Fine needle aspiration
Fine needle aspiration biopsy
Fine needle aspiration cytology
Fracture risk assessment tool
Fasting serum gastrin
Follicle stimulating hormone
Free testosterone
Free T4
Free T3
Follicular thyroid cancer

GD
Graves’ disease
GDM
Gestational diabetes mellitus
GERD
Gastroesophageal reflux disease
GFR
Glomerular filtration rate
GH
Growth hormone
GHRH
Growth-hormone-releasing hormone
GIGastrointestinal

GLP-1
Glucagon-like peptide 1
GnRH
Gonadotropin-releasing hormone
GRS
Glucocorticoid resistance syndrome
HCGHuman chorionic gonadotropin (=human chorionic
gonadotropin β)
hGR
Human glucocorticoid receptor
HDDST
High-dose dexamethasone suppression test
HEENT
Head, eyes, ears, nose, and throat examination
HHM
Humoral hypercalcemia of malignancy
HNPGL
Head and neck paragangliomas
HOMA-indexHomeostasis model assessment of insulin resistance
HPA
Hypothalamus–pituitary–adrenal axis
HPT-JT
Hyperparathyroidism-jaw tumor syndrome
HRT
Hormone replacement therapy
HSD11B211β-hydroxysteroid dehydrogenase type 2
HU
Hounsfield unit
ICSI
Intracytoplasmatic sperm injection

ICTPCarboxy-terminal telopeptide of type I collagen
IFNInterferon
IGF-1
Insulin-like growth factor 1


XXII

Abbreviations

IL-6Interleukin-6
IMRT
Intensity-modulated radiotherapy
ITT
Insulin tolerance test
IU
International unit
LBW
LH
LOH

Low-birth weight
Luteinizing hormone
Local osteolytic hypercalcemia

MACS
Mild autonomous cortisol secretion
MAH
Malignancy-associated hypercalcemia
MAIS

Mild androgen insensitivity
MEN
Multiple endocrine neoplasia
MIBIMethoxyisobutylisonitrile
MNMetanephrine
MRHEMineralocorticoid responsible hyponatremia
in the elderly
MRI
Magnetic resonance imaging
MRKH syndrome Mayer-Rokitansky-Küster-Hauser syndrome
mTOR
Mechanistic target of rapamycin
MTC
Medullary thyroid cancer
NANoradrenaline
NAFLD
Non-alcoholic fatty liver disease
NCAHNon-classical CAH (congenital adrenal hyperplasia)
NEN
Neuroendocrine neoplasm
NET
Neuroendocrine tumor
NFPA
Non-functional pituitary adenoma
NMNNormetanephrine
NSAID
Non-steroidal anti-inflammatory drug
NSE
Neuron specific enolase
OC

ODS
OGTT

Oral contraceptive
Osmotic demyelination syndrome
Oral glucose tolerance test

PA
Primary aldosteronism
PAC
Plasma aldosterone concentration
PAI
Primary adrenal insufficiency
PAIS
Partial androgen insensitivity
PC
Pulmonary carcinoid
PCOM
Polycystic ovary morphology
PCOS
Polycystic ovary syndrome
PEI
Percutaneous ethanol sclerotherapy
PET-CTPositron emission tomography – computed tomography
PFS
Progression-free survival
PGGRPrimary generalized glucocorticoid resistance
PHPTPrimary hyperparathyroidism
POI
Primary ovarian insufficiency

POsm
Plasma osmolality


Abbreviations

PPGLPheochromocytoma/paraganglioma
PPI
Proton pump inhibitor
PPNADPrimary pigmented nodular adrenal hyperplasia
PPT
Postpartum thyroiditis
PRA
Plasma renin activity
PRRT
Peptide receptor radionuclide therapy
PRLProlactin
PTC
Papillary thyroid cancer
PTH
Parathyroid hormone
PTHrP
Parathyroid hormone-related protein
PTUPropylthiouracil
RAAS
Renin-angiotensin-aldosterone system
RAIRadioiodine
RAIT
Radioiodine therapy
RANKLReceptor activator of nuclear factor kappa-beta ligand

RECIST
Response evaluation criteria in solid tumors
REE
Resting energy expenditure
RFA
Radiofrequency ablation
rhTSH
Recombinant human TSH
RTRadiotherapy
rT3
Reverse triiodothyronine
RTH
Thyroid hormone resistance
SACT
Selective arterial calcium stimulation
SAI
Secondary adrenal insufficiency
SCLC
Small cell lung cancer
SERM
Selective estrogen receptor modulators
SGLT2
Sodium-glucose cotransporter 2
SHBG
Sex hormone binding globulin
SIAD
Syndrome of inappropriate antidiuresis
SIADH
Syndrome of inappropriate ADH secretion
SIRT

Selective internal radiation therapy
SNA+
Serum Na+ concentration
SPECT-CT
Single photon emission computed tomography
SRI
Somatostatin receptor imaging
SRS
Stereotactic radiosurgery
SRY
Sex determining region of chromosome Y
SSA
Somatostatin analogue
SSIR
Severe insulin resistant syndromes
SSTR
Somatostatin receptor
SV-CAH
Simple virilizing form of congenital adrenal hyperplasia
SW-CAH
Salt-wasting form of congenital adrenal hyperplasia
SWS
Salt-wasting syndrome
TTestosterone
T2D
Type 2 diabetes mellitus
T3Triiodothyronine
T4Thyroxine

XXIII



XXIV

Abbreviations

TACE
Transarterial chemoembolization
TART
Testicular adrenal rest tissue
TESE
Testicular extraction of sperm
TBG
Thyroid binding globulin
TC
Typical carcinoid
TFT
Thyroid hormone function test
TgThyroglobulin
TgAb
Anti-thyroglobulin antibody
TGT
Transient gestational thyrotoxicosis
TH
Thyroid hormone
TIRADS
Thyroid imaging reporting and data systems
TIH
Thiazide-induced hyponatremia
TKI

Tyrosine kinase inhibitor
TN
Thyroid nodule
TNM
Tumors nodes metastases
TRAb
TSH (thyrotropin) receptor antibody
TRα
Thyroid hormone receptor alpha
TRβ
Thyroid hormone receptor beta
TRH
Thyrotropin releasing hormone
TRIAC
Triiodothyroacetic acid
TSA
Transsphenoidal adenomectomy
TSH
Thyroid stimulating hormone (thyrotropin)
TSH-oma TSH-secreting pituitary adenomas
TSS
Transsphenoidal surgery
TT
Total testosterone
UFC
Urinary free cortisol
ULN
Upper limit of normal
UNa+
Urine sodium concentration

UOsm
Urine usmolality
USUltrasound
VHL
VIP
VTE
VUS

Von Hippel-Lindau syndrome
Vasoactive intestinal peptide
Venous thromboembolism
Variant of unknown/uncertain significance

WBS

Whole body scan

XGH

Xanthogranulomatous hypophysitis

ZES

Zollinger-Ellison syndrome


1

Diseases of the
Pituitary and

Hypothalamus
The pituitary gland is the master regulator of the endocrine system.
The anterior lobe of the pituitary secretes prolactin, growth
hormone, and several other very important hormones that regulate
major endocrine organs such as the thyroid, adrenal glands, and the
gonads. The thyroid, adrenal cortex, and gonads are not capable of
hormone secretion on their own, as the stimulating hormones from
the pituitary are essential for their functioning. The pituitary,
however, is not autonomous either since various factors from the
hypothalamus regulate hormone secretion from the anterior
pituitary. The regulatory axes for the thyroid, adrenal cortex, and
gonads thus include three components, for example, hypothalamic-­
pituitary-­
thyroid or hypothalamic-pituitary-adrenal axes. These
axes involve negative feedback regulation, that is, the product of
the peripheral hormone-producing organ (e.g., cortisol from the
adrenal cortex) inhibits the secretion of the respective stimulating
hormones from the hypothalamus (corticotropin releasing
hormone) and pituitary (adrenocorticotropic hormone).
In contrast to the anterior lobe, the posterior lobe of the pituitary does
not produce hormones on its own, but stores the hormones produced
by hypothalamic nuclei (antidiuretic hormone and oxytocin).
Based on the three-level regulation of the hypothalamic-pituitary-­
thyroid/adrenal/gonad axes, hormone deficiency due to the
disease of the peripheral hormone-producing organs (thyroid,
adrenal cortex, or gonads) is termed primary insufficiency, whereas
pituitary and hypothalamic insufficiency are termed secondary
and tertiary, respectively.
In this part of the book, the major diseases of the pituitary and
hypothalamus are discussed. The first chapters (7 Chaps. 1, 2, 3, 4,

and 5) present diseases associated with pituitary tumors (and


I


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