The Human Hypothalamus

Neuroendocrine Disorders

1st Edition, Volume 181 - July 4, 2021
Editors: Dick F. Swaab, Ruud M. Buijs, Paul J. Lucassen, Ahmad Salehi, Felix Kreier
Language: English
Hardback ISBN:
9 7 8 - 0 - 1 2 - 8 2 0 6 8 3 - 6
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 0 6 8 4 - 3

The Human Hypothalamus: Neuroendocrine Disorders, Volume 181 in the Handbook of Clinical Neurology series, provides comprehensive summaries of recent research on the brain and ner… Read more

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The Human Hypothalamus: Neuroendocrine Disorders, Volume 181 in the Handbook of Clinical Neurology series, provides comprehensive summaries of recent research on the brain and nervous system as they relate to clinical neurology. This volume summarizes the role of the hypothalamus in neuroendocrine disorders, identifying the mechanism of action, disorder etiology, and best practices for assessment and treatment. Disorders covered include pituitary hypothalamic disorders of development and growth, hypothalamic tumor related disorders, hypothalamic autoimmune disorders and infection, disorders of vasopressin, water and sodium homeostasis, eating disorders, and gonadotropic hormone regulation disorders.

Cover image
Title page
Table of Contents
Copyright
Available titles
Foreword
Preface
The HCN volumes on the Human Hypothalamus
Contributors
Contents of related volumes
Chapter 1: Introduction: The human hypothalamus and neuroendocrine disorders
Section 15: Structural Disorders of the Hypothalamo–Pituitary Region
Section 16: Tumors of the Hypothalamus
Section 17: Neuroimmunological Disorders
Section 18: Drinking Disorders
Section 19: Eating Disorders
Section 20: Reproduction and Sexual Behavior
Section 15: Structural disorders of the hypothalamo-pituitary region
Chapter 2: Pituitary stalk interruption syndrome
Abstract
Introduction
Epidemiology
Magnetic Resonance Imaging findings
Clinical Manifestations
Hormonal Profile and Evolution of Hormone Deficiencies
Treatment
Pathogenesis of Pituitary Stalk Interruption Syndrome
Genetics of Pituitary Stalk Interruption Syndrome
Environmental Factors and PSIS
Conclusions and Perspectives
Chapter 3: Empty sella syndrome: Multiple endocrine disorders
Abstract
Introduction
Classification
Epidemiology
Pathogenesis of Empty Sella
Presenting Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment Strategies
Follow-Up
Prognosis
Conclusion
Chapter 4: Pituitary dysfunction after aneurysmal subarachnoidal hemorrhage
Abstract
Introduction
Epidemiology
Treatment and Management of aSAH
Neuroendocrine Dysfunction in aSAH Patients
Neuroendocrine Dysfunction in the Acute Phase after aSAH
Neuroendocrine Dysfunction in the Chronic Phase after aSAH
Neuroendocrine Dysfunction in aSAH Patients: Changes from the Acute to the Chronic Phase
Conclusions
Chapter 5: Septo-optic dysplasia
Abstract
Introduction
Etiology and Pathogenesis
Development of the Forebrain and Pituitary Gland
Neuropathological Studies
Epidemiology
Clinical Presentation
Diagnostic Stage
Clinical and Surgical Management
Prognosis and Outcome
Conclusion
Section 16: Tumors of the hypothalamus
Chapter 6: Hypothalamic hormone-producing tumors
Abstract
Introduction
Tumor Classification, Clinical, and Morphological Features
Therapeutic Approaches
Chapter 7: Craniopharyngiomas primarily affecting the hypothalamus
Abstract
Introduction
Conclusions
Sources of funding
Disclosure of potential conflict of interest
Section 17: Neuroimmunological disorders
Chapter 8: The stress-axis in multiple sclerosis: Clinical, cellular, and molecular aspects
Abstract
Introduction
The Stress-Axis in MS
Determinants of Stress-Axis Responsiveness
Pathological, Cellular, and Molecular Effects of Stress-Axis Responsiveness
Clinical Correlates of HPA Axis Activity in MS
Outlook
Chapter 9: Neuroendocrine manifestations of Langerhans cell histiocytosis
Abstract
Introduction
Epidemiology
Diagnostic Criteria
Neuroendocrine Manifestations of LCH
Management of LCH
Conclusions
Chapter 10: Neuroendocrine manifestations of Erdheim–Chester disease
Abstract
Introduction
Manifestations of Hypothalamus, Pituitary Stalk, and/or Pituitary Gland Lesions
Manifestations of Posterior Pituitary Hormone Deficiencies (Arginine Vasopressin and/or Oxytocin Deficiencies)
Manifestations of Anterior Pituitary Hormone Deficiencies
ACTH Deficiency (Hypothalamic–Pituitary–Adrenal Axis)
TSH Deficiency (Hypothalamic–Pituitary–Thyroid Axis)
GH Deficiency
Gonadotropin Deficiency (Hypothalamic–Pituitary–Gonadal Axis)
Hyperprolactinemia
PRL Deficiency
Conclusions
Chapter 11: Hypothalamitis and pituitary atrophy
Abstract
Introduction
Pathogenesis
Clinical Presentation
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Conclusion
Chapter 12: Narcolepsy Type I as an autoimmune disorder
Abstract
Narcolepsy Type 1
Genetic Associations in Narcolepsy Type 1
Environmental Factors Linked to Disease Development
Pathologic Findings Postmortem in Narcolepsy Type 1
Immune System Chances in Narcolepsy Type 1 Patients
Animal Models of Narcolepsy Type 1
Is Narcolepsy Type 1 an Autoimmune Disease?
Chapter 13: Neuromyelitis optica, aquaporin-4 antibodies, and neuroendocrine disorders
Abstract
Neuromyelitis Optica Spectrum Disorders
Circumventricular Organs and the Hypothalamus as Target of Aquaporin-4 Autoimmunity
The Spectrum of Neuroendocrine Disorders in Neuromyelitis Optica
Chapter 14: Antibodies against the pituitary and hypothalamus in boxers
Abstract
Traumatic Brain Injury: Epidemiology, Causes, and Outcomes
TBI and Neuroendocrine Abnormalities
Autoimmunity and Hypothalamo-Pituitary Dysfunction
Boxing and Autoimmunity
Acknowledgment
Chapter 15: Autoimmune diabetes insipidus
Abstract
Introduction
Autoantibody Studies
Summary and outlook
Section 18: Drinking disorders
Chapter 16: Neuroimaging of central diabetes insipidus
Abstract
Introduction
Neuroanatomy and Neurophysiology of the Hypothalamic–Neurohypophyseal Axis
Causes of Central Diabetes Insipidus
Discussion
Summary and future directions
Chapter 17: Differential diagnosis of familial diabetes insipidus
Abstract
History
Physiology
Pathophysiology
Familial DI
Differential Diagnosis of Familial DI
Conclusions
Chapter 18: The vasopressin–aquaporin-2 pathway syndromes
Abstract
Defective Vasopressin–AQP2 Pathway in Nephrogenic Diabetes Insipidus (NDI)
Altered Vasopressin–AQP2 Pathway in the Syndrome of Inappropriate Secretion of Antidiuretic Hormone (SIADH)
Altered Vasopressin–AQP2 Pathway in Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD)
Constant Tonic Action of Vasopressin–AQP2 Pathway in Polycystic Kidney Disease
Chapter 19: Adipsic diabetes insipidus
Abstract
Introduction
Physiology of Arginine Vasopressin and Thirst
Etiology of Adipsic Diabetes Insipidus
Associated Diseases
Management of Adipsic Diabetes Insipidus
Prognosis and Future Directions
Chapter 20: Animal models for diabetes insipidus
Abstract
Determinants of the Intake and Excretion of Water and Mineral Salts
Diabetes Insipidus: Characteristics and Types
Animal Models of Central and Nephrogenic DI
From Animal Models to Emerging Human Therapies for DI
Chapter 21: Nocturnal enuresis in children: The role of arginine–vasopressin
Abstract
Introduction
Nocturnal Enuresis as a Complex Condition: Elements of Pathophysiology
The Concept of Nocturnal Polyuria in Nocturnal Enuresis
Circadian Rhythms, Arginine–Vasopressin, and Nocturnal Polyuria
Nocturnal Polyuria Unrelated to AVP
Antidiuretic Treatment of Nocturnal Enuresis With Vasopressin Analogues
The Refractory Patient
AVP and the Genetics of Nocturnal Enuresis
Conclusions and Future Perspectives
Section 19: Eating disorders
Chapter 22: Monogenic human obesity syndromes
Abstract
Introduction
Leptin—A Peripheral Hormone that Acts on Circuits in the Hypothalamus to Regulate Weight
Homozygous Mutations in the Genes Encoding Leptin and the Leptin Receptor
Genetic Disorders that Disrupt Melanocortin Signaling
Semaphorin 3 Signaling Affects the Development of POMC Neurons
SRC-1 and PHIP Modulate the Transcription of POMC
SIM1 and OTP Shape the Development of the PVN
BDNF, TrkB Affect Weight, Memory, and Behavior
SH2B1 Links Weight Regulation and Aggression
Conclusions
Chapter 23: Hypothalamic microinflammation
Abstract
Introduction
Hypothalamic Microinflammation Discovered in Animals
Hypothalamic Microinflammation: Human Relevance
A Few Inducers of Hypothalamic Microinflammation
Hypothalamic Microinflammation in Chronic Overnutrition
Hypothalamic Microinflammation in Early Aging
Hypothalamic Microinflammation: A Basis for Obesity
Hypothalamic Microinflammation: A Basis for Diabetes
Hypothalamic Microinflammation: A Basis for Hypertension
Hypothalamic Microinflammation: A Basis for Aging
Concluding Remarks
Chapter 24: Glucose and fat sensing in the human hypothalamus
Abstract
Introduction
Hypothalamic Sensing of Glucose and Fats
Summary, Implications, and Future Perspectives
Concluding Remarks
Chapter 25: Hypothalamus and neuroendocrine diseases: The use of human-induced pluripotent stem cells for disease modeling
Abstract
Introduction
Development of Human Neuroendocrine Hypothalamus
Differentiation of Human-Induced Pluripotent Stem Cell Into Hypothalamic Neurons
Modeling Neuroendocrine Diseases (Obesity) in a Dish Using hiPSC-Derived Hypothalamic Neurons
Chapter 26: Prader–Willi syndrome: Hormone therapies
Abstract
Introduction
Genetics
Endocrine Treatments
Conclusions
Chapter 27: Transcriptomics of the Prader–Willi syndrome hypothalamus
Abstract
Introduction
Transcriptomics Analysis in Prader–Willi Syndrome
Conclusions and future research directions
Chapter 28: Disorders of hypothalamic function: Insights from Prader–Willi syndrome and the effects of craniopharyngioma
Abstract
Introduction
Craniopharyngioma
Prader–Willi Syndrome
Comparisons Between Hypothalamic CP and PWS
Conclusions
Chapter 29: Animal models for Prader–Willi syndrome
Abstract
Introduction
Phenoptypes in Mouse Models
Conclusion
Chapter 30: Is there a hypothalamic basis for anorexia nervosa?
Abstract
Introduction
Genetics and Epigenetics of Anorexia Nervosa
Structural and Functional Imaging and Brain Connectivity in Anorexia Nervosa
Hypothalamic Control of Energy Homeostasis/Peripheral and Hypothalamic Adaptations in Anorexia Nervosa
Peripheral Sensors of Nutritional and Energy Status Acting in the Hypothalamus
Hypothalamic and Neuroendocrine-Related Agents in Anorexia Nervosa
Neuroendocrine/Hypothalamic Adaptations in Animal Models of Undernutrition
Conclusion
Section 20: Reproduction, olfaction and sexual behavior
Chapter 31: Sexual differentiation of the human hypothalamus: Relationship to gender identity and sexual orientation
Abstract
Introduction: Programming of the Brain
Gender-Based Differences in Behavior
Mechanisms Involved in Sexual Differentiation of the Brain
Differences in the Hypothalamus in Relation to Sex and Gender Dysphoria
Conclusions
Acknowledgements
Chapter 32: Klinefelter syndrome or testicular dysgenesis: Genetics, endocrinology, and neuropsychology
Abstract
Definition
Prevalence
Testicular Dysgenesis and Hypothalamic–Pituitary–Gonadal Axis Function
Cancer
Metabolic Disorders
Neurologic Disorders in Klinefelter Syndrome
Neurocognitive Phenotype
Personality, Social Dysfunction, Psychiatric Disorders, and Sexual Orientation
Brain Structure and Function
Genetics and Epigenetics
Conclusion
Chapter 33: Neurobiology of puberty and its disorders
Abstract
Introduction
Overview of Operation of Mature Hypothalamic–Pituitary–Gonadal Axis
Chronology of Pubertal Development and Stages
Ontogeny of Hypothalamic GnRH Pulse Generation (Fetal to Pubertal)
Neurobiology of Central Restraint
Control Systems Governing Timing of Brake
Energy Balance and Puberty
Disorders of Puberty
Disorders Associated With Early Puberty
Approach to the Child with Precocious Pubertal Development
Disorders of Delayed Puberty
Pituitary-Dependent Hypogonadotropism (Pituitary Hypogonadism)
Approach to the Child With Delayed Pubertal Development
Conclusion
Index

Dick F. Swaab

Dick Swaab (1944) earned his medical and doctoral degrees at the University of Amsterdam, where he became involved in brain research during his third year of medical school. He was Director of the Netherlands Institute for Brain Research from 1978 to 2005. Since 1979 he is Professor of Neurobiology at the Medical Faculty, University of Amsterdam.

In 1985, Dr. Swaab founded the Netherlands Brain Bank (NBB) to serve as a source of clinically and neuropathologically well-documented research tissue. Since its founding, the Brain Bank has provided samples from more than 4,000 autopsies to 500 research groups in 25 countries. He was director of the NBB until 2005.

He is Leader Research team Neuropsychiatric Disorders, Neth. Inst for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW). Swaab is also appointed for 2011-2017 Chao Kuang Piu Chair of Zhejiang University, Hangzhou, P.R. China.

His major research interests focus on, sexual differentiation of the human brain in relation to gender identity and sexual orientation, aging of the brain, Alzheimer’s disease, the neurobiological basis of depression, suicide and eating disorders. He has published over 540 papers in SCI journals, authored more than 200 chapters in books, and edited more than 60 books. Swaab mentored 84 PhD students from which 16 are now full professor. He is “Companion in the Order of the Dutch Lion”, bestowed by her Royal Majesty Queen Beatrix of the Netherlands. In 2008 Swaab obtained the Academy medal for his role in national and international neuroscience.

Dick Swaab is author of the 2 volume monograph The Human Hypothalamus that appeared in the Handbook of Clinical Neurology series, Elsevier, Amsterdam (1000 pp) and the Dutch best seller We are our Brains (450.000 copies sold), that is translated in 14 languages. A children's version of the book (You are your brains) has also appeared in Dutch in 2013 and Russian (2014). Swaab's H-factor is 76.

Affiliations and expertise

Netherlands Institute for Brain Research, University of Amsterdam, Amsterdam, The Netherlands

Ruud M. Buijs

Dr. Ruud M. Buijs is head of the Physiology department of the I.I.Biomedicas at the UNAM university and leader of the group Hypothalamic Integration Mechanisms. In that group, the scientists study how the brain and body interact with each other, and hereby the attention is focussed on autonomic and hormonal regulation of body functions under the influence of the biological clock of the brain.

Affiliations and expertise

Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico, Ciudad Universitaria, Mexico D.F.

Paul J. Lucassen

Paul J. Lucassen did his PhD in 1995 on Alzheimer’s Disease at the Netherlands Institute for Brain Research in Amsterdam. After a.o. a postdoc in Leiden, he became Full Professor of Brain Plasticity in 2011 at the Swammerdam Institute for Life Sciences (SILS) of the University of Amsterdam, The Netherlands. His group studies molecular, nutritional, pharmacological and environmental regulation of brain plasticity. They combine molecular tools, in vitro/vivo model systems, human brain tissue, cohort studies and brain imaging. A major focus is on adult neurogenesis and cognition in relation to; (early life) stress, exercise, enrichment, depression, brain insults and dementia.

Affiliations and expertise

Swammerdam Institute for Life Sciences (SILS) - Center for Neuroscience, University of Amsterdam, Amsterdam, The Netherlands

Ahmad Salehi

Ahmad Salehi is affiliated with Stanford Medical School, Department of Psychiatry & Behavioral Sciences, in Palo Alto, CA, United States.

Affiliations and expertise

Stanford Medical School, Department of Psychiatry and Behavioral Sciences, Palo Alto, CA, United States

Felix Kreier

Felix Kreier is a pediatrician and affiliated with OLVG Hospitals in Amsterdam, The Netherlands.

Affiliations and expertise

OLVG Hospitals, Amsterdam, The Netherlands

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The Human Hypothalamus

Neuroendocrine Disorders

Purchase options

Institutional subscription on ScienceDirect

Dick F. Swaab

Ruud M. Buijs

Paul J. Lucassen

Ahmad Salehi

Felix Kreier