Pituitary Disorders E-Book

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 878

Veröffentlichungsjahr: 2013

Beschreibung

Do you want to be up to date on the latest concepts of diagnosis and treatment of patients suffering from disorders of the pituitary gland?

Are you looking for an expert guide to the best clinical management?

If so, this is the book for you, providing a full analysis of pituitary disorder management from acromegaly to Addison's Disease; from Cushing's Disease to hypopituitarism; from hormone disorders to hormone replacement.

Well-illustrated throughout, and with contributions from leading specialists in pituitary disease, inside you'll find comprehensive and expert coverage, including:

• Diagnosing pituitary disease
• Management options for each disorder
• Complications that can occur
• Psychological and psychosocial effects of pituitary disease
• What outcomes you and your patients can expect over the long term
• Current research and clinical trials related to pituitary disease

Pituitary Disorders: Diagnosis and Management is the perfect clinical tool for physicians and health care providers from many related disciplines, and an essential companion for the best quality management of pituitary patients.

Leseprobe

Table of Contents

Title page

Copyright page

List of Contributors

Introduction

Abbreviations

SECTION 1: Overview

CHAPTER 1: The Endocrine System

Normal Development and Structure

Endocrine Regulation

Endocrine Pathology

CHAPTER 2: Signs and Symptoms of Pituitary Disease

Physical Manifestations of Pituitary Disorders

Emotional Manifestations of Pituitary Disorders

Mental Health Aspects of Pituitary Disorders

SECTION 2: Disorders

CHAPTER 3: Acromegaly

Introduction

Methods of Diagnosis

Monitoring of Disease Activity

Treatment Objectives

Primary Medical Therapy

Specific Medications

Impact of Therapy on Comorbidities

Conclusions

CHAPTER 4: Secondary Adrenal Insufficiency

Epidemiology

Etiology and Pathogenesis

Clinical Presentation

Diagnosis

Therapy

Special Considerations

CHAPTER 5: Adult Growth Hormone Deficiency

Background

Benefits of Growth Hormone Replacement

Diagnosis of Adult Growth Hormone Deficiency

Growth Hormone Use in Children and Transition to the Adult Endocrinologist

Considerations Regarding Other Pituitary Hormones

Treatment of Adult Growth Hormone Deficiency

Safety Considerations

Conclusions

CHAPTER 6: Pituitary Carcinoma

Definition

Clinical Features

Radiologic Findings

Morphologic Findings

Pathogenesis

Prognosis and Therapy

CHAPTER 7: Craniopharyngioma

Epidemiology and Definition

Clinical Presentation and Diagnosis

Therapies

Long-Term Sequelae

Conclusion

CHAPTER 8: Cushing’s Syndrome

Introduction

Clinical Presentation

Laboratory and Radiologic Investigations

Therapeutic Approaches

Approach to Patients with Residual or Recurrent Disease

Other Issues

CHAPTER 9: Empty Sella Syndrome

Introduction

Primary Empty Sella Syndrome

Secondary Empty Sella Syndrome

Clinical Symptoms

Treatment Strategies for Empty Sella Syndrome

Conclusion

CHAPTER 10: Familial Pituitary Adenomas

Introduction

Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 4

Familial Isolated Pituitary Adenoma

Carney Complex

Other Possible Familial Pituitary Adenoma Syndromes

Recommendations for Genetic Screening of Patients with Pituitary Adenomas

CHAPTER 11: Follicle Stimulating Hormone and Luteinizing Hormone Secreting Tumors

Physiopathology of Gonadotroph Tumors

Gonadotroph Adenomas

CHAPTER 12: Hypopituitarism

Introduction

Physiology

Etiology

Clinical Manifestations

Mortality

CHAPTER 13: Clinically Nonfunctioning Pituitary Adenomas

Categorization of Clinically Nonfunctioning Pituitary Adenomas

Presentation

Atypical and “Malignant” Nonfunctioning Adenomas

Clinical Evaluation

Treatment

Summary

CHAPTER 14: Prolactinoma

Incidence and Prevalence

Etiology

Natural History

Clinical Presentation and Physiopathology

Diagnosis

Treatment

Prolactinoma and Pregnancy

CHAPTER 15: Rathke’s Cleft Cysts

Introduction

Tissue Origin of Rathke’s Cleft Cysts

Clinical Presentation

Imaging of Rathke’s Cleft Cysts and Differential Diagnosis

Natural History of Untreated Rathke’s Cleft Cysts

Surgical Management

Long-Term Recurrence Rates

Conclusion

CHAPTER 16: Thyroid Hormone Deficiency

Introduction

Etiology

Clinical Presentation

Diagnosis

Treatment

Summary

CHAPTER 17: Thyroid Stimulating Hormone Secreting Tumor

Introduction

Epidemiology

Pathogenesis

Pathology

Clinical Manifestations

Diagnosis

Treatment

CHAPTER 18: Pituitary Disorders – Specific Issues for Women

Pituitary Disorders and the Menstrual Cycle

Infertility and Pituitary Disorders

Pituitary Disease During Pregnancy

Pituitary Hormone Replacement Therapy – Pearls Specific to Women (Not Pregnancy Related)

Psychosocial Effects

Summary

CHAPTER 19: Hypogonadism and Male Sexual Function

Introduction

Hypothalmic–Pituitary–Gonadal Axis and Male Sexual Function: Physiology and Development

Etiology of Hypogondatotropic Hypogonadism

Diagnosis of Hypogonadotrophic Hypogonadism and Decreased Male Sexual Function

Treatment of Hypogonadotropic Hypogonadism and Male Sexual Function

Acknowledgement

CHAPTER 20: Pituitary Disorders Specific to Children

Panhypopituitarism

Pituitary Tumors

Growth Hormone Deficiency

Precocious Puberty

Delayed/Absent Puberty

SECTION 3: Diagnosing Pituitary Disorders

CHAPTER 21: Physical Examination

Introduction

Hypopituitarism

Physical Manifestations Specific To Hormone Deficiency

Pituitary Tumors

Conclusion

CHAPTER 22: Pituitary Endocrine Function Testing

Introduction

Assessment of Anterior Pituitary Function

Pituitary–Thyroid Assessment

Prolactin Assessment

Pituitary Growth Hormone Assessment

Gonadotropin Assessment

Assessment of Posterior Pituitary Function

SECTION 4: Treatment of Pituitary Disorders

CHAPTER 23: Medical Management of Pituitary Adenomas

Introduction

Growth-Hormone-Producing Tumors

TSH-Producing Tumors (TSH-oma)

ACTH-Producing Tumors (Cushing’s Disease)

LH/FSH-Producing Tumors (Gonadotropic Adenomas) and Nonfunctioning Pituitary Adenomas

Prolactinomas

CHAPTER 24: Surgical Management of Pituitary Disorders

Pure Endoscopic Transsphenoidal Surgery

Open Transcranial Approaches to the Sella

Endoscopic Skull Base Approaches

Transnasal Endoscope-Assisted Transsphenoidal Approach for Pituitary Tumors

CHAPTER 25: Stereotactic Radiosurgery for Pituitary Adenomas

Introduction

Stereotactic Radiosurgery Concept and Techniques

Stereotactic Radiosurgery for Pituitary Adenomas

Stereotactic Radiosurgery and Cushing’s Disease

Stereotactic Radiosurgery and Acromegaly

Biochemical Remission and Late Recurrence Induced by Stereotactic Radiosurgery

Adverse Events After Stereotactic Radiosurgery

Conclusions

CHAPTER 26: Hormone Replacement Therapy

Growth Hormone Deficiency in Adults

Growth Hormone Deficiency in Children and Adolescents

Pituitary Hormone Replacement in Women

SECTION 5: Complications that Accompany Pituitary Disease

CHAPTER 27: Complications of Pituitary Disease

Cardiac Complications

Cognitive Dysfunction

Diabetes Insipidus

Headaches

Obesity

Osteoporosis

Permanent Hormone Deficiency

Visual Deficits Caused By Pituitary Tumors

SECTION 6: General Psychological and Psychosocial Effects

CHAPTER 28: General Psychological and Psychosocial Effects of Pituitary Disorders

Introduction: Scope of Psychiatric and Psychosocial Effects in Pituitary Disorders

Psychological Symptoms Linked to Specific Type of Pituitary Tumor

Major Psychological Symptoms Linked to Pituitary Disease

Psychological Aspects Relating to Diagnosis and Treatment

Depression, Anxiety, and Body Image Concerns

Residual Symptoms May Persist After “Successful” Treatment

Directions for Future Research

Conclusion

SECTION 7: Long Term: What You and Your Patients Can Expect

CHAPTER 29: Living with Pituitary Disease

Introduction

Long-term Mortality in Patients with Pituitary Disease

Quality of Life in Patients with Pituitary Disease

Contribution of Hormone Replacement Regimens to Quality of Life and Long-Term Morbidity

Assessing Apathy in Patients with Pituitary Disease

Conclusions

Disclaimer Statement

SECTION 8: Research and Clinical Trials

Chapter 30: Research and Clinical Trials

Introduction

Genetic and Familial Pituitary Tumors

Factors Implicated in Sporadic Pituitary Tumors

Clinical Research in Pituitary Disorders

Conclusion

SECTION 9: Resources

Chapter 31: Fundamentals of Pituitary Pathology

Introduction

Importance of Clinical Information

At the Time of Surgery

Histology

Primary Adenohypophysial Cell Proliferations

Conclusion

Glossary

Index

This edition first published 2013 © 2013 by John Wiley & Sons, Ltd. Chapter 24, section ‘Pure Endoscopic Transsphenoidal Surgery’ remains with the U.S. Government.

Wiley-Blackwell is an imprint of John Wiley & Sons, formed by the merger of Wiley’s global Scientific, Technical and Medical business with Blackwell Publishing.

Registered office: John Wiley & Sons, Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK

Editorial offices: 9600 Garsington Road, Oxford, OX4 2DQ, UK

The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK

111 River Street, Hoboken, NJ 07030-5774, USA

For details of our global editorial offices, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell

The right of the author to be identified as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988.

All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher.

Designations used by companies to distinguish their products are often claimed as trademarks. All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners. The publisher is not associated with any product or vendor mentioned in this book. It is sold on the understanding that the publisher is not engaged in rendering professional services. If professional advice or other expert assistance is required, the services of a competent professional should be sought.

The contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended and should not be relied upon as recommending or promoting a specific method, diagnosis, or treatment by physicians for any particular patient. The publisher and the author make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of fitness for a particular purpose. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. Readers should consult with a specialist where appropriate. The fact that an organization or Website is referred to in this work as a citation and/or a potential source of further information does not mean that the author or the publisher endorses the information the organization or Website may provide or recommendations it may make. Further, readers should be aware that Internet Websites listed in this work may have changed or disappeared between when this work was written and when it is read. No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom.

Library of Congress Cataloging-in-Publication Data

Pituitary disorders : diagnosis and management / edited by Edward R. Laws Jr. . . . [et al.].

p. ; cm.

Includes bibliographical references and index.

ISBN 978-0-470-67201-3 (pbk. : alk. paper)

I. Laws, Edward R.

[DNLM: 1. Pituitary Diseases. WK 550]

616.4'7–dc23

A catalogue record for this book is available from the British Library.

Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books.

Cover images: from left to right – Shutterstock file number #71338543 © vetpathologist, iStock file number #4606038 theasis, fotolia pituitary tumor © Dr Cano file number #1559123, iStock file number #20015759 asiseeit. Main image iStock file number #17548218, Janulla.

Cover design by Steve Thompson

List of Contributors

Manish K. Aghi MD PhD

Associate Professor in Residence of Neurological Surgery

California Center for Pituitary Disorders at UCSF;

Department of Neurological Surgery

University of California, San Francisco

San Francisco, CA, USA

Krystallenia I. Alexandraki MD PhD MSc MSc

Endocrinologist

Medical School of the National and Kapodistrian University of Athens

Athens, Greece

Michelangelo de Angelis MD

Resident

Department of Neurological Sciences

Division of Neurosurgery

Università Federico II di Napoli

Naples, Italy

Sylvia L. Asa MD PhD

Medical Director, Laboratory Medicine Program

Senior Scientist, Ontario Cancer Institute

University Health Network;

Professor

Department of Laboratory Medicine and Pathobiology

University of Toronto

Toronto, ON, Canada

Richard J. Auchus MD PhD

Professor

Department of Internal Medicine

University of Michigan Health System

Ann Arbor, MI, USA

Paolo Beck-Peccoz MD

Professor of Endocrinology

Endocrinology and Diabetology Unit

Fondazione IRCCS Policlinico;

Department of Clinical Sciences and Community Health

University of Milan

Milan, Italy

Ignacio Bernabeu MD

Endocrinologist

Division of Endocrinology, Department of Medicine

Complejo Hospitalario Universitario de Santiago de Compostela (CHUS)

Universidad de Santiago de Compostela

Santiago de Compostela, Spain

Lewis S. Blevins Jr. MD

Medical Director, California Center for Pituitary Disorders at UCSF;

Clinical Professor of Neurological Surgery and Medicine University of California, San Francisco

San Francisco, CA, USA

Andressa Bornschein MD

Fellow

Department of Neurological Surgery

The Ohio State University

Columbus, OH, USA

T. Brooks Vaughan III MD

Associate Professor of Medicine and Pediatrics

Medical Director, Neurosurgical Pituitary Disorders Clinic

Division of Endocrinology, Department of Medicine

University of Alabama at Birmingham

Birmingham, AL, USA

Jessica Brzana MD

Senior Fellow in Endocrinology

Department of Medicine

Division of Endocrinology, Diabetes and Clinical Nutrition

Oregon Health & Science University

Portland, OR, USA

Paolo Cappabianca MD

Professor and Chairman of Neurological Surgery

Department of Neurological Sciences

Division of Neurosurgery

Università Federico II di Napoli

Naples, Italy

Ricardo L. Carrau MD

Professor of Otolaryngology – Head and Neck Surgery

Department of Otolaryngology

The Ohio State University

Columbus, OH, USA

Felipe F. Casanueva MD PhD

Professor of Medicine

Division of Endocrinology, Department of Medicine

Complejo Hospitalario Universitario de Santiago de Compostela (CHUS)

Universidad de Santiago de Compostela;

Centro de Investigación Biomédica en Red (CIBER) de Fisiopatología Obesidad y Nutrición, Instituto Salud Carlos III

Santiago de Compostela, Spain

Luigi M. Cavallo MD, PhD

Adjunct Professor

Department of Neurological Sciences

Division of Neurosurgery

Università Federico II di Napoli

Naples, Italy

George P. Chrousos MD MACP MACE FRCP

Professor and Chairman

Department of Pediatrics

UNESCO Chair of Adolescent Health Care

Chief, Division of Endocrinology, Metabolism and Diabetes

Medical School of the National and Kapodistrian University of Athens;

Children’s Hospital Aghia Sophia

Athens, Greece

Pejman Cohan MD

Associate Professor of Medicine

UCLA School of Medicine

Los Angeles, CA;

Director, Specialized Endocrine Care Center

Beverly Hills, CA, USA

Annamaria Colao MD PhD

Professor of Endocrinology

Dipartimento di Medicina Clinica e Chirurgia

Sezione di Endocrinologia

Università Federico II di Napoli

Naples, Italy

Alessia Cozzolino MD

Fellow in Endocrinology

Dipartimento di Medicina Clinica e Chirurgia

Sezione di Endocrinologia

Università Federico II di Napoli

Naples, Italy

Jessica K. Devin MD MSCI

Assistant Professor

Division of Diabetes, Endocrinology and Metabolism

Vanderbilt University Medical Center

Nashville, TN, USA

Ian F. Dunn MD

Assistant Professor of Neurosurgery

Department of Neurosurgery

Brigham and Women’s Hospital

Harvard Medical School

Boston, MA, USA

Huy T. Duong MD

Neurosurgical Fellow

Brain Tumor Center & Pituitary Disorders Program

John Wayne Cancer Institute at Saint John’s Health Center

Santa Monica, CA, USA

Tobias Else MD

Endocrinology Chief Fellow

Department of Internal Medicine

University of Michigan Health System

Ann Arbor, MI, USA

Felice Esposito MD PhD

Clinical Instructor

Department of Neurological Sciences

Division of Neurosurgery

Università Federico II di Napoli

Naples, Italy

Shereen Ezzat MD FRCP(C) FACP

Head, Endocrine Oncology Site Group

Princess Margaret Hospital;

Senior Scientist, Ontario Cancer Institute

University Health Network;

Professor, Department of Medicine

University of Toronto

Toronto, ON, Canada

Marco Faustini-Fustini MD

Director

IRCCS

Institute of Neurological Sciences

Bellaria Hospital

Bologna, Italy

Eva Fernandez-Rodriguez MD

Endocrinologist

Division of Endocrinology, Department of Medicine

Complejo Hospitalario Universitario de Santiago de Compostela (CHUS)

Universidad de Santiago de Compostela

Santiago de Compostela, Spain

Leo F. S. Ditzel Filho MD

Fellow

Minimally Invasive Cranial Surgery Program

Department of Neurological Surgery

The Ohio State University

Columbus, OH, USA

Maria Fleseriu MD FACE

Associate Professor

Director, Pituitary Center

Department of Medicine

Division of Endocrinology, Diabetes and Clinical Nutrition;

Department of Neurological Surgery

Oregon Health & Science University

Portland, OR, USA

Giorgio Frank MD

Director

IRCCS

Institute of Neurological Sciences

Bellaria Hospital

Bologna, Italy

Mitchell E. Geffner MD

Children’s Hospital Los Angeles;

Keck School of Medicine of USC

Los Angeles, CA, USA

Valerie Golden JD PhD

Attending Clinical Psychologist

Minneapolis, MN, USA

Ludovica F. S. Grasso MD

Fellow in Endocrinology

Dipartmento di Medicina Clinica e Chirurgia

Sezionbe di Endocrinolgia

Università Federico II di Napoli

Naples, Italy

Seunggu J. Han MD

Resident, Department of Neurological Surgery

University of California, San Francisco

San Francisco, CA, USA

Anthony P. Heaney MD PhD

Professor

Co-Chief, Division of Endocrinology, Diabetes & Hypertension

Departments of Medicine & Neurosurgery

David Geffen School of Medicine at UCLA

Los Angeles, CA, USA

Laura C. Hernández-Ramírez MD

Department of Endocrinology

Barts and the London School of Medicine

Queen Mary University of London

London, UK

Adriana G. Ioachimescu MD PhD FACE

Co-Director

Emory Pituitary Center;

Assistant Professor

Department of Medicine and Neurosurgery

Emory University School of Medicine

Atlanta, GA, USA

Arman Jahangiri BS

Howard Hughes Medical Institute Fellow

Laboratory of Manish K.Aghi

University of California, San Francisco

San Francisco, CA, USA

John A. Jane Jr. MD

Associate Professor of Neurosurgery and Pediatrics

Department of Neurosurgery

University of Virginia Health Sciences Center

University of Virginia

Charlottesville, VA, USA

Joseph A. M. J. L. Janssen MD PhD

Internist-Endocrinologist

Associate Professor of Medicine

Department of Internal Medicine

Erasmus Medical Center

Rotterdam, The Netherlands

Ursula B. Kaiser MD

Associate Professor of Medicine

Harvard Medical School;

Chief, Division of Endocrinology, Diabetes & Hypertension

Brigham and Women’s Hospital

Boston, MA, USA

Gregory A. Kaltsas MD FRCP

Associate Professor of Pathophysiology – Endocrinology

Medical School of the National and Kapodistrian University of Athens

Athens, Greece

Eva N. Kassi MD

Endocrinologist

Assistant Professor in Biochemistry

Medical School of the National and Kapodistrian University of Athens

Athens, Greece

Laurence Katznelson MD

Professor of Medicine and Neurosurgery

Stanford Hospital and Clinics

Stanford University

Stanford, CA, USA

Daniel F. Kelly MD

Director, Brain Tumor Center & Pituitary Disorders Program

John Wayne Cancer Institute at Saint John’s Health Center

Santa Monica, CA, USA

Bahram Khazai MD

Fellow

Division of Endocrinology, Department of Medicine

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Torrance, CA, USA

Robert Knutzen MBA

Chairman and CEO

Pituitary Network Association

Newbury Park, CA, USA

Márta Korbonits MD PhD

Professor of Endocrinology and Metabolism

Department of Endocrinology

Barts and the London School of Medicine

Queen Mary University of London

London, UK

Andrea Lania MD PhD

Assistant Professor of Endocrinology

BIOMETRA Department

University of Milan

Milan;

Endocrine & Pituitary Unit

Humanitas Clinical and Research Center

Rozzano, Italy

Danielle de Lara MD

Fellow

Minimally Invasive Cranial Surgery Program

Department of Neurological Surgery

The Ohio State University

Columbus, OH, USA

Edward R. Laws Jr. MD FACS

Professor of Surgery

Harvard Medical School;

Department of Neurosurgery

Brigham and Women’s Hospital

Boston, MA, USA

Shirley McCartney PhD

Assistant Professor

Department of Neurological Surgery

Oregon Health & Science University

Portland, OR, USA

Gautam U. Mehta MD

Resident, Department of Neurosurgery

University of Virginia Health Sciences Center

University of Virginia

Charlottesville, VA, USA

Brandon A. Miller MD PhD

Resident, Neurosurgery

Department of Neurosurgery

Emory University School of Medicine

Atlanta, GA, USA

Stephen J. Monteith MB ChB

Resident Physician

Department of Neurosurgery

University of Virginia Health Sciences Center

University of Virginia

Charlottesville, VA, USA

Michael C. Oh MD PhD

Resident Physician

California Center for Pituitary Disorders at UCSF;

Department of Neurological Surgery

University of California, San Francisco

San Francisco, CA, USA

Nelson M. Oyesiku MD PhD FACS

Al Lerner Chair and Vice-Chairman

Department of Neurosurgery

Professor, Neurosurgery and Medicine (Endocrinology)

Emory University School of Medicine

Atlanta, GA, USA

Kathryn Pade MD

Children’s Hospital Los Angeles;

Keck School of Medicine of USC

Los Angeles, CA, USA

Luca Persani MD

Professor of Endocrinology

Department of Clinical Sciences and Community Health

University of Milan;

Division of Endocrine and Metabolic Disease

IRCCS Istituto Auxologico Italiano

Milan, Italy

Sashank Prasad MD

Assistant Professor of Neurology

Division of Neuro-Ophthalmology

Brigham and Women’s Hospital

Boston, MA, USA

Daniel M. Prevedello MD

Assistant Professor

Director of Minimally Invasive Cranial Surgery Program

Department of Neurological Surgery

The Ohio State University

Columbus, OH, USA

Kristen Owen Riley MD

Associate Professor

Director, Neurosurgical Pituitary Disorders Clinic

Division of Neurosurgery

Department of Surgery

University of Alabama at Birmingham

Birmingham, AL, USA

Linda M. Rio MA MFT

Director of Professional and Public Education

Pituitary Network Association

Newbury Park, CA;

Marriage & Family Therapist

New Beginnings Counseling Center

Camarillo, CA, USA

Paul B. Rizzoli MD FAAN FAHS

Assistant Professor of Neurology

Harvard Medical School;

Clinical Director

John R. Graham Headache Center

Brigham and Womens Hospital

Boston, MA, USA

Alan D. Rogol MD PhD

Professor of Pediatrics

Riley Hospital for Children

Indiana University School of Medicine

Indianapolis, IN;

Professor Emeritus

University of Virginia

Charlottesville, VA, USA

Klara J. Rosenquist MD

Clinical and Research Fellow in Medicine

Division of Endocrinology, Diabetes and Hypertension

Brigham and Women’s Hospital

Harvard Medical School

Boston, MA, USA

Theodore H. Schwartz MD

Professor of Neurosurgery, Otolaryngology, Neurology and Neuroscience

Director of Minimally Invasive Skull base and Pituitary Surgery

Weill Cornell Medical College;

New York Presbyterian Hospital

New York, NY, USA

Jason P. Sheehan MD PhD

Alumni Professor and Vice Chair of Neurosurgery

University of Virginia

Charlottesville, VA, USA

Luis G. Sobrinho MD

Professor of Endocrinology

Portuguese Cancer Institute

Lisbon, Portugal

Domenico Solari MD

Clinical Instructor

Department of Neurological Sciences

Division of Neurosurgery

Università Federico II di Napoli

Naples, Italy

Brittany P. Sumerel BS

Clinical Research Associate

Division of Endocrinology, Diabetes and Hypertension

Departments of Medicine & Neurosurgery

David Geffen School of Medicine at UCLA

Los Angeles, CA, USA

Prasanth N. Surampudi MD

Fellow

Division of Endocrinology, Department of Medicine

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Torrance, CA, USA

Ronald S. Swerdloff MD

Professor of Medicine

David Geffen School of Medicine at UCLA;

Chief, Division of Endocrinology

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Torrance, CA, USA

Andrea L. Utz MD PhD

Assistant Professor

Director, Pituitary Center

Vanderbilt University Medical Center

Nashville, TN, USA

Aart Jan van der Lely MD PhD

Professor of Clinical Endocrinology

Department of Medicine

Erasmus Medical Center

Rotterdam, The Netherlands

Christina Wang MD

Associate Director UCLA Clinical and Translational Science Institute

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center;

Professor of Medicine

Division of Endocrinology, Department of Medicine

David Geffen School of Medicine at UCLA

Torrance, CA, USA

Brian J. Williams MD

Resident Physician

Department of Neurosurgery

University of Virginia

Charlottesville, VA, USA

Whitney W. Woodmansee MD

Director, Clinical Neuroendocrine Program

Division of Endocrinology, Diabetes and Hypertension

Brigham and Women’s Hospital

Harvard Medical School

Boston, MA, USA

Tong Yang MD PhD

Resident

Departments of Neurological Surgery, Otolaryngology, Neurology and Neuroscience

Weill Cornell Medical College;

New York Presbyterian Hospital

New York, NY, USA

Christine G. Yedinak DNP FNP-BC MN

Assistant Professor

Department of Neurological Surgery

Oregon Health & Science University

Portland, OR, USA

Introduction

For many patients, their ailment is all in their head.

In 1886, Pierre Marie recognized and chronicled a disease of the pituitary, one of the first so ascribed, called acromegaly. The official recognition of the disease as an enlargement of the pituitary gland was discovered in postmortem studies in 1887 and reported by Dr. Oskar Minkowski, although giants had been reported throughout the course of history. The story of David and Goliath, a biblical tale, talks of the diminutive David able to slay the great giant named Goliath. There is no mention of Goliath having suffered from acromegaly, but it is entirely possible that, if the fable is true, the post-diagnosis would be as well.

In 1924, the Soviet physician Nikolai Mikhailovich Itsenko reported on two patients suffering from an adenoma in the pituitary gland. These patients were producing large amounts of adrenocorticotropic hormone (ACTH), causing the adrenal glands to produce excessive amounts of cortisol. It was not until 1932, however, that the American neurosurgeon Harvey Cushing described the clinical features associated with a pituitary tumor secreting ACTH. This came to be known as Cushing’s disease, and the clinical manifestations of excess circulating cortisol as Cushing’s syndrome. Cushing is considered by many to be the father of modern neurosurgery and it is his influence that has helped to drive the field of endocrinology, the study of hormonal influences on both medical disease and mental health disorders, and the gathering of knowledge of the pituitary gland itself.

As early as 1936, Dr. Russell T. Costello, a pathologist at the Mayo Clinic, published his findings from a 1000-cadaver autopsy series. He established firmly that pituitary tumors (adenomas) were found in 22.5% of the adult population. Extensive studies, done more recently, echo Dr. Costello’s findings. They confirm (with minor variations) the enormous proliferation of pituitary tumors, cysts and lesions. Today we know that these tumors are not rare and that, in fact, nearly one in five persons has pituitary disease. Many remain undiagnosed.

In the past 15 years, the clinical appreciation of the impact of pituitary disorders has accelerated rapidly – perhaps dangerously so. The continual churn of developments has left little time for the advancing knowledge and proper medical prac­tice guidelines to percolate through the medical, patient and public sectors and allow for uniform improvement in understanding and patient care. Medical treatments, hormone replacements, surgical and radiological treatment options flourish, to the great satisfaction of the inventing scientists and academic medical practitioners, while leaving the great majority of patients untreated or undertreated – and, in too many instances, un- or underdiagnosed.

Physicians, neurosurgeons, endocrinologists, nurses, nurse practitioners and mental health professionals – those on the front lines of pituitary disease, diagnosis and treatment – are dedicated to helping their patients to find solace, and helping those treating the disease to obtain the tools required. As popular newspapers and magazines publish more and more articles on difficult medical and mental health problems, not to mention the information available on the internet, people are slowly realizing that many common problems are linked to pituitary disease. This master gland can send confusing signals that do not necessarily lead to the formation of cysts, lesions, and tumors. Hypo- or hyper-secretion of hormones can (in itself) lead to dire problems requiring intensive medical intervention. In addition, nonsecreting (nonfunctioning) tumors can cause severe distress when they grow and invade nearby areas of the brain. The distress to the patient is both physical and emotional. This is why neurosurgeon Dan Kelly calls the pituitary gland “the crossroads of mind and body.”

In 1913 Cushing said, “It is quite probable that the neuro-pathology of everyday life hinges largely on the effects of the discharge of the ductless gland upon the nervous system.”

Dr. Shereen Ezzat, Professor of Medicine at the University of Toronto, puts it this way: “One in five individuals may have an abnormal growth on their pituitary gland, causing significant health complications that, if left undiagnosed and untreated, can impair normal hormone function and result in a reduced lifespan.”

Hormonally challenged patients come in many shapes and sizes but they have an almost universal story to tell, one we should all be listening to. Luckily, today’s experts, like those featured in this extremely necessary book, are writing new chapters almost daily, dealing with diagnosis, treatment and living with pituitary disease, providing perhaps the definitive proof that for pituitary patients, their ailment is truly all in their head.

Robert Knutzen, MBA

Chair/CEO

Pituitary Network Association

Newbury Park, CA, USA;

Acromegalic Patient

Abbreviations

ACTHadrenocorticotropinADHantidiuretic hormoneAhRaryl-hydrocarbon receptorAIParyl-hydrocarbon receptor interacting proteinAIREautoimmune regulatorAPUDamine precursor uptake and decarboxylationAVParginine vasopressinBMIbody mass indexCAHcongenital adrenal hyperplasiaCBGCortisol-binding globulinCDCushing’s diseaseCDGPconstitutional delay of growth and pubertyCDKIcyclin-dependent kinase inhibitorsCNCCarney complexCNScentral nervous systemCPHDcombined pituitary hormone deficiencyCPIDcombined pituitary deficiencyCPPcentral precocious pubertyCRHcorticotropin releasing hormoneCRHTCRH testingCSCushing’s syndromeCSFCerebrospinal fluidCTcomputed tomographyCVAcerebrovascular accidentDAdopamine agonistDDAVPdesmopressinDHEAdehydroepiandrosteroneDHEASdehydroepiandrosterone sulfateDIdiabetes insipidusDREdioxin-responsive elementESSempty sella syndromeFAPfamilial adenomatous polyposisFDAFood and Drug AdministrationFIPAfamilial isolated pituitary adenomaFSHfollicle stimulating hormoneFTfree testosteroneGABgranulosa cell aromatase bioassayGFAPglial fibrillary acidic proteinGHgrowth hormoneGHDgrowth hormone deficiencyGHRgrowth hormone receptorGHRHgrowth hormone releasing hormoneGHRPgrowth hormone releasing peptideGIPgastric inhibitory polypeptideGnRHgonadotropin releasing hormoneHPAhypothalamic–pituitary–adrenalHPGhypothalamic–pituitary–gonadalHPOhypothalamus–pituitary–ovarianHPRThypoxanthine phosphoribosyl transferaseHPThypothalamic–pituitary–thyroidICPintracranial pressureICTPC-terminal cross-linked telopeptide of type I collagenIFSisolated familial somatotropinomaIMintramuscularIPSSinferior petrosal sinus samplingITTinsulin tolerance testKALSKallmann’s syndromeLAHlymphocytic adenohypophysitisLAMBlentigines, atrial myxomas, and blue neviLCCSCT large-cell calcifying Sertoli cell tumorsLDTlow-dose testLHluteinizing hormoneLHRHluteinizing hormone releasing hormoneLINHlymphocytic infundibuloneurophyophysitisLOHloss of heterozygosityLPHlymphocytic panhyophysitisLPSlumboperitoneal shuntLVleft ventricularLyHlymphocytic hypophysitisMEFmouse embryonic fibroblastsMENmultiple endocrine neoplasiaMLLmixed lineage leukemiaMLPAmultiplex ligation-dependent probe amplificationMTmetyrapone testingNAMEnevi, atrial myxomas, and ephelidesNESnuclear export signalNFPAnonfunctioning pituitary adenomaNOSoxide synthaseNSNelson’s syndromeOGTToral glucose tolerance testOSAobstructive sleep apneaPAPpituitary adenoma predispositionPCOSpolycystic ovary syndromePDParkinson’s diseasePKAprotein kinase APMSpsammomatous melanotic schwannomaPOMCpro-opiomelanocortinPPNADprimary pigmented nodular adrenocortical diseasePRLprolactinPTNpleiotropinPTTGpituitary tumor transforming geneQoLQuality of lifeRCCRathke cleft cystREMrapid eye movement (sleep)RERrough endoplasmic reticulumRTHresistance to thyroid hormoneRXRretinoid X nuclear hormone receptorSAsomatostatin analogSCsubcutaneousSDHsuccinate dehydrogenaseSDHBsuccinate dehydrogenase B subunitSDHDsuccinate dehydrogenase D subunitSDSstandard deviation scoreSDTstandard dose testSHBGsex hormone binding globulinSIADHsyndrome of inappropriate antidiuretic hormone hypersecretionSRslow releaseSSSheehan’s syndromeSSAsomatostatin analogTCDD2,3,7,8-tetrachloro-p-dioxinTIBCtotal iron-binding capacityTPRtetratricopeptide repeatTRthyroid hormone receptorTRHthyrotropin releasing hormoneTRTtestosterone replacement therapyTSGtumor suppressor geneTTTotal testosteroneUFCurine free cortisolVASventriculoatrial shuntVPSventriculoperitoneal shuntVDRvitamin D receptorWDTwater deprivation testWHOWorld Health OrganizationXRExenobiotic or Ah-responsive element

SECTION 1

Overview

CHAPTER 1

The Endocrine System

Sylvia L. Asa and Shereen Ezzat

University of Toronto, Toronto, ON, Canada

Normal Development and Structure

The endocrine system is composed of cells and organs that have, as their primary function, the production and secretion of hormones. They are generally classified into three broad categories: peptide hormone-producing, steroid hormone-producing, and thyroid hormone-producing.

Peptide Hormone-Producing Cells

The majority of endocrine cell types produce peptide hormones. This group of endocrine cells have a characteristic morphology that is called “neuroendocrine” because of its similarity to neural cells [1]. They have sufficient neural differentiation structurally and functionally that they have been called “paraneurons.” Historically they were classified as the APUD (amine precursor uptake and decarboxylation) system. It was previously suggested that they derive embryologically from the neural crest, but this has not been proven for all members of this group of cells, many of which arise from the primitive endoderm. Nevertheless, functionally they act as neuron-like cells; they secrete peptides that are often also produced by neurons. In fact, endocrine cells and neurons are like conventional and wireless communication: neurons produce messengers that are released at synapses and activate receptors in physically adjacent cells, rather like conventional wiring, whereas neuroendocrine cells produce the same types of messengers but release them into the bloodstream to activate cells throughout the body, analogous to wireless messages that do not rely on physical contact for communication.