Practical Endocrinology and Diabetes in Children

Name: Practical Endocrinology and Diabetes in Children
Brand: Wiley
Price: 95.99 EUR
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Malcolm D. C. Donaldson John W. Gregory Guy Van-Vliet Joseph I. Wolfsdorf(Autor*in)

Wiley (Verlag)

4. Auflage

Erschienen am 7. Februar 2019

328 Seiten

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Inhalt

Intro
Table of Contents
Preface to the Fourth Edition
Acknowledgements
Abbreviations
1 Diabetes Mellitus
Definition
Incidence
Biochemistry
Clinical presentation
Investigations
Initial management of newly diagnosed type 1 diabetes
Insulin therapy in type 1 diabetes
Dietary management
Management of the child presenting with ketoacidosis
The diabetes clinic
Monitoring and assessment of diabetes control
Exercise
Diabetes in preschool-aged children
Diabetes in adolescence
Hypoglycaemia in youth with diabetes
Recurrent DKA and its prevention
Management of diabetes during intercurrent illness ('Sick Day Rules')
Management of diabetes when travelling
Management of diabetes during surgery
Long-term complications of diabetes
Type 2 diabetes in children and adolescents
Miscellaneous practical matters
Endocrine and other disorders associated with diabetes
Unusual causes of diabetes in childhood
Audit and benchmarking
Future developments
Controversial points
Potential pitfalls
References
Useful Information for Patients and Parents
Advice on transition from paediatric to adult care
2 Hypoglycaemia
Physiology
Symptoms and signs of hypoglycaemia
Definition
Aetiology
Preliminary examination and investigation
Treatment
Emergency management of acute hypoglycaemia
Guidelines for follow-up
When to involve a specialist centre
Transition
Future developments
Controversial points
Potential pitfalls
References
Further Reading
Useful Information for Patients and Parents
3 Short Stature
Introduction
Definitions of short stature, failure to thrive, and growth failure
Physiology of growth
Endocrine control of growth
Clinical assessment of growth
Clinical assessment of short stature
Investigation of short stature
Differential diagnosis of short stature
Other endocrine causes of short stature
Treatment of short stature
Transition
When to involve a specialist centre
Future developments
Controversial points
Potential pitfalls
References
Further Reading
Useful Information for Patients and Parents
4 Tall Stature
Pathogenesis and differential diagnosis
Assessment of the child or adolescent with tall stature
Investigations
Causes of tall stature
Endocrine causes of tall stature
Treatment of familial (constitutional) tall stature
Future developments
When to involve a specialist centre
Controversial points
Potential pitfalls
References
Further Reading
Useful Information for Patients and Parents
5 Puberty
Physiology of normal puberty
Physiology of the menstrual cycle
Clinical aspects of normal puberty
Sexual precocity
Clinical assessment and diagnosis of boys and girls with sexual precocity
Diagnosis and management of sexual precocity in girls
Diagnosis and management of sexual precocity in boys
Delayed puberty and pubertal failure
Clinical assessment of boys and girls with delayed puberty
Causes of delayed or absent puberty and pubertal failure
Other pubertal disorders
Future developments
Potential pitfalls
Controversial points
When to involve a specialist centre
References
Further Reading
Useful Information for Patients and Parents
6 Thyroid Disorders
Embryology, anatomy, and physiology of the thyroid gland
Foetal and neonatal thyroid metabolism
Thyroid function tests (TFTs)
Definition and classification of thyroid disorders
Congenital hypothyroidism
Acquired hypothyroidism
Hyperthyroidism
Thyroid neoplasia
Miscellaneous disorders
Transition
When to involve a specialist centre
Future developments
Controversial points
Common pitfalls
References
Further Reading
Useful Information for Patients and Parents
7 Differences in Sex Development and Common Genital Anomalies
Introduction
Normal sex differentiation and its genetic and hormonal control
Classification of DSDs
Initial investigation of DSDs
Aetiological diagnosis, sex assignment, and initial management of DSDs
Psychological challenges faced by individuals with DSDs and outcome
Sexual orientation and gender identity in subjects with DSD
Common genital anomalies with no ambiguity
Future developments
Potential pitfalls
Controversial points
When to involve a specialist centre
Further Reading
Useful Information for Individuals and Parents
8 Adrenal Disorders
Physiology
Investigations of adrenocortical function
Glucocorticoid excess
Glucocorticoid deficiency
Mineralocorticoid excess
Mineralocorticoid deficiency
Sex steroid excess
Adrenal enzyme defects
Sex steroid deficiency
Adrenal medullary disorder
Future developments
Potential pitfalls
Controversial points
When to involve a specialist centre
Transition
Emergency management
References
Further Reading
Useful Information for Patients and Parents
9 Salt and Water Balance
Physiology and pathophysiology
Hyponatraemia
Endocrine hypertension
Hypernatraemia
Diabetes insipidus
When to involve a specialist centre
Future developments
Controversial points
Potential pitfalls
Emergencies
Further Reading
Useful Information for Patients and Parents
10 Calcium and Bone
Physiology
Hypocalcaemia
Treatment
Rickets
Osteoporosis
Hypercalcaemia
When to involve a specialist centre
Transition
Future developments
Controversial points
Potential pitfalls
References
Further Reading
Key Weblink
Useful Information for Patients and Parents
11 Obesity
Physiology
Preliminary examination and investigation
Treatment
When to involve a specialist centre
Future developments
Transition
Controversial points
Potential pitfalls
Further Reading
Key Weblinks
Useful Information for Patients and Parents
12 Endocrine Effects of Cancer Treatment
Pathophysiology
Investigation and management of late endocrine effects
Specific endocrine and growth abnormalities associated with cancer treatment
When to involve a specialist centre
Future developments
Transition
Controversial points
Potential pitfalls
Further Reading
Key Weblink
Useful Information for Patients and Parents
13 An Endocrinologist's Guide to Genetics in the Age of Genomics
Introduction
Basic concepts
Mutations and mode of inheritance
Traditional molecular techniques
Genomics
Endocrine genetics: from phenotype to genotype
References
APPENDIX 1: Growth Charts and Body Mass Index (BMI) Charts
Reference
APPENDIX 2: Syndrome-specific Growth Charts
References
APPENDIX 3: Congenital Adrenal Hyperplasia (CAH) Therapy Card
Index
End User License Agreement

Abbreviations

ACEI: angiotensin converting enzyme inhibitor
ACMG: American College of Medical Genetics
ACR: albumin:creatinine ratio
ACTH: adrenocorticotrophic hormone
AER: albumin excretion rate
AFP: alpha-foetoprotein
AHO: Albright's hereditary osteodystrophy
AIRE: autoimmune regulator
AIS: androgen insensitivity syndrome
ALD: adrenoleukodystrophy
ALS: acid-labile subunit
ALT: alanine amino transferase
AME: apparent mineralocorticoid excess
AMH: anti-Müllerian hormone
APECED: autoimmune polyendocrinopathy with endocrinopathy and cutaneous ectodermal dystrophy
AR: androgen receptor
ARB: angiotensin receptor blocker
ARDS: adult respiratory distress syndrome
ATA: American Thyroid Association
ATD: anti-thyroid drug
ATP: adenosine triphosphate
AVP: arginine-vasopressin; ß-human chorionic gonadotrophin
BDR: background diabetic retinopathy
BMI: body mass index
BOHB: beta-hydroxybutyrate
BP: blood pressure
CAH: congenital adrenal hyperplasia
CAI: central adrenal insufficiency
CAIS: complete androgen insensitivity syndrome
cAMP: cyclic adenosine monophosphate
CBG: cortisol binding globulin
CDC: Centers for Disease Control and Prevention
CDGA: constitutional delay in growth and adolescence
CF: cystic fibrosis
CFRD: cystic fibrosis-related diabetes
CGH: comparative genomic hybridization
CGM: continuous glucose monitoring
cGy: centi-Gray units
CNS: central nervous system
CPEG: Canadian Pediatric Endocrine Group
CPP: central precocious puberty
CRH: corticotrophin-releasing hormone
CRP: C-reactive protein
CSII: continuous subcutaneous insulin infusion
CT: computerized tomography
CVD: cardiovascular disease
CYP: cytochrome P450
DAX-1: dosage-sensitive sex reversal adrenal hypoplasia critical region on chromosome X, gene 1
DCCT: Diabetes Control and Complications Trial
DDAVP: desamino-D-arginine-vasopression
DEND: developmental delay, epilepsy, diabetes mellitus
DEXA: dual X-ray absorptiometry
DHEAS: dehydroepiandrosterone sulphate
dHPLC: denaturing high-performance liquid chromatography
DHT: dihydrotestosterone
DI: diabetes insipidus
DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
DIT: diiodotyrosine
DKA: diabetic ketoacidosis
DMD: Duchenne muscular dystrophy
DME: diabetic macular oedema
DNA: deoxyribonucleic acid
DNE: diabetes nurse educator
DNS: diabetes nurse specialist
DOC: deoxycorticosterone
DSD: differences in sex development
DUOX2: dual oxidase 2 enzymes
DXA: dual X-ray absorptiometry
DZ: dizygotic
ECF: extracellular fluid
ENaC: epithelial sodium channel
EPP: ectopic posterior pituitary
ER: endoplasmic reticulum
ESPE: European Society for Paediatric Endocrinology
ESR: erthyrocyte sedimentation rate
FASD: foetal alcohol spectrum disorder
FBC: full blood count
FFA: free fatty acids
FGD: familial glucocorticoid deficiency
FGFR3: fibroblast growth factor receptor-3
FISH: fluorescent in situ hybridization
FNA: fine needle aspiration
FSH: follicle-stimulating hormone
FT3: free triiodothyronine
FT4: free thyroxine
GABA: gamma-aminobutyric acid
GAD: glutamic acid decarboxylase
GC: guanine-cytosine
GH: growth hormone; growth hormone binding protein
GHD: growth hormone deficiency
GHRH: growth hormone releasing hormone
GI: glycaemic index
GNAS: G-protein stimulatory alpha subunit
GnRH: gonadotrophin-releasing hormone
GP: general practitioner
GSD 0: glycogen synthase deficiency
GSD 1: glucose-6-phosphatase deficiency
HbA1c: glycosylated haemoglobin
hCG: human chorionic gonadotrophin
HDL: high-density lipoprotein
hGH: human growth hormone
HGVS: Human Genome Variation Society
HHS: hyperglycaemic hyperosmolar state
HLA: human leukocyte antigen
HMG-CoA: 3-hydroxy-3-methylglutaryl coenzyme A
H-P: hypothalamo-pituitary
HSD: hydroxysteroid dehydrogenase
IA2: insulinoma-associated antigen-2 17-OHP 17-hydroxyprogesterone
1GF-1: insulin-like growth factor 1
im: intramuscular
IGFBP: insulin-like growth factor-binding protein
INS: insulin gene locus
IQ: intelligence quotient
ISCN: International System for Human Cytogenetic Nomenclature
ISPAD: International Society for Pediatric and Adolescent Diabetes
ISS: idiopathic short stature
ITT: insulin-tolerance test
IUGR: intrauterine growth restriction
IV: intravenous
JIA: juvenile idiopathic arthritis
K: potassium
LDL: low-density lipoprotein
LDLR: low-density lipoprotein receptor
LH: luteinizing hormone
MAF: minimum allele frequency
MASS: mitral valve prolapse, aortic enlargement, skin and skeletal
MC-1R: melanocortin-1 receptor
MDI: multiple daily injections
MEN: multiple endocrine neoplasia
MHC: major histocompatibility complex
MIT: monoiodotyrosine
MKRN3: Makorin ring finger protein 3
MODY: maturity onset diabetes of the young
MPH: mid-parental height
MR: mineralocorticoid receptor
MRAP: melanocortin 2 receptor accessory protein
MRI: magnetic resonance imaging
MTC: medullary thyroid carcinoma
MZ: monozygotic
NAFLD: non-alcoholic fatty liver disease
NASH: non-alcoholic steatohepatitis
NC-21-OHD: non-classical 21-hydroxylase deficiency
NCHS: National Center for Health Statistics
NF: neurofibromatosis
NGS: next generation sequencing
NHS: National Health Service
NIS: sodium iodide symporter
NPH: neutral protamine Hagedorn
OGTT: oral glucose tolerance test
PAIS: partial androgen insensitivity syndrome
PALS: paediatric advanced life support
PCOS: polycystic ovarian syndrome
PCR: polymerase chain reaction
PDR: proliferative diabetic retinopathy
PG: plasma glucose
PGA: polyglandular autoimmune
PHA: pseudohypoaldosteronism
PHV: peak height velocity
PNDM: permanent neonatal diabetes mellitus
POMC: proopiomelanocortin
POR: P450-oxidoreductase
PPAR?: peroxisome proliferator-activated receptor gamma
PPGL: phaeochromocytoma and paraganglioma
PTH: parathyroid hormone
PTHrP: parathyroid hormone-related peptide
PTU: propylthiouracil
PUVA: psoralen plus ultraviolet A
PWS: Prader-Willi Syndrome
RCPCH: Royal College of Paediatrics and Child Health
RET: receptor tyrosine
RFLP: restriction length polymorphisms
RNA: ribonucleic acid
sc: subcutaneous
SDS: standard deviation score
SED: spondylo-epiphyseal dysplasia
SF-1: steroidogenic factor 1
SGA: small for gestational...

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