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

List of Tables

Chapter 1
1. Table 1.1 Criteria for the diagnosis of diabetes mellitus.
2. Table 1.2 Protocol for and interpretation of the oral glucose tolerance test.
3. Table 1.3 The American Diabetes Association classification of diabetes.
4. Table 1.4 Supplies required at time of discharge.
5. Table 1.5 Types of insulin preparations and approximate insulin action profiles.
6. Table 1.6 Suggested starting total daily insulin dose (units per kg per day).
7. Table 1.7 General approaches to meal management.
8. Table 1.8 Maintenance fluid requirements in DKA.
9. Table 1.9 Example of fluid volume calculation.
10. Table 1.10 Symptoms and signs of cerebral oedema.
11. Table 1.11 Points to note on clinical examination of patients with diabetes at a...
12. Table 1.12 Interpretation of glycated haemoglobin values.
13. Table 1.13 Principles of managing diabetes in preschool‐aged children.
14. Table 1.14 Causes of hypoglycaemia in children and adolescents with diabetes mel...
15. Table 1.15 Guidelines for managing sick days and correcting ketones.
16. Table 1.16 Risk factors for type 2 diabetes in youth.
17. Table 1.17 Common subtypes of MODY and associated clinical features.
Chapter 2
1. Table 2.1 Neonates at increased risk for hypoglycaemia and who require glucose s...
2. Table 2.2 Symptoms and signs of hypoglycaemia in newborns.
3. Table 2.3 The differential diagnosis of hypoglycaemia in children.
4. Table 2.4 Clinical signs on examination.
5. Table 2.5 Investigation of hypoglycaemia at time of presentation.
6. Table 2.6 Length of fasts for children undergoing investigation of possible hypo...
Chapter 3
1. Table 3.1 Clinical features suggesting that investigations for short stature are...
2. Table 3.2 Baseline investigations for short stature.
3. Table 3.3 Classification of short stature.
4. Table 3.4 Principal features of Turner syndrome.
5. Table 3.5 Principal features of Noonan syndrome.
6. Table 3.6 Key features of achondroplasia, hypochondroplasia, and spondylo‐epiphy...
7. Table 3.7 Clinical features of severe and mild GH deficiency.
8. Table 3.8 Principal causes of GH insufficiency.
9. Table 3.9 Details of some GH stimulation tests. Absolute requirementsbefore all ...
10. Table 3.10 Indications for consideration of endocrine therapy in the patient wit...
11. Table 3.11 Guidelines for GH therapy in children with GH insufficiency.
12. Table 3.12 Results of glucagon stimulation test.
Chapter 4
1. Table 4.1 Differential diagnosis of tall stature.
2. Table 4.2 Clinical assessment of tall stature.
3. Table 4.3 Baseline investigations for tall stature.
4. Table 4.4 Assessment for possible growth hormone excess.
5. Table 4.5 Principal features of Marfan, Sotos, and Beckwith‐Wiedemann syndromes.
Chapter 5
1. Table 5.1 Mean ages of breast (B) stages in girls with corresponding height velo...
2. Table 5.2 Mean ages of genital (B) stages in boys with corresponding height velo...
3. Table 5.3 Normative data for LH and FSH before (basal) and after (peak) stimulat...
4. Table 5.4 Types of sexual precocity encountered at Royal Hospital for Sick Child...
5. Table 5.5 Aetiology of true central precocious puberty (onset ≤8 years in girls ...
6. Table 5.6 Classification of delayed and abnormal puberty (including delayed/abse...
7. Table 5.7 Regimen for pubertal induction using 25 μg/24 hours of 17β‐estradiol m...
8. Table 5.8 Regimen for pubertal induction using 1 mg 17β‐estradiol tablets.
Chapter 6
1. Table 6.1 Suggested reference ranges for common thyroid function tests, after va...
2. Table 6.2 Causes of permanent and transient, syndromic and non‐syndromic neonata...
3. Table 6.3 Suggested schema for follow‐up of patients with congenital hypothyroid...
4. Table 6.4 Early detection and management of neonatal thyrotoxicosis. (after Lége...
5. Table 6.5 Classification of thyroid neoplasia.
6. Table 6.6 Thyroid function tests.
Chapter 7
1. Table 7.1 Previous and new classification of disorders of sex development.
Chapter 8
1. Table 8.1 Investigation of glucocorticoid secretion.
2. Table 8.2 Investigation of mineralocorticoid secretion.
3. Table 8.3 Investigation of adrenal steroid precursors and androgens.
4. Table 8.4 Dosage schedules for mineralocorticoid, glucocorticoid and salt therap...
5. Table 8.5 Preoperative and emergency intramuscular (im), bolus, and infusion rat...
Chapter 9
1. Table 9.1 Causes of hyponatraemia.
2. Table 9.2 Clinical signs of volume depletion and overload.
3. Table 9.3 Causes of syndrome of inappropriate antidiuretic hormone secretion (SI...
4. Table 9.4 Causes of endocrine hypertension.
5. Table 9.5 Causes of hypernatraemia.
Chapter 10
1. Table 10.1 Factors which influence peak bone mass.
2. Table 10.2 Causes of hypocalcaemia.
3. Table 10.3 Clinical signs to look for on examination.
4. Table 10.4 Differential diagnosis of disorders of vitamin D and parathyroid horm...
5. Table 10.5 Treatment of rickets.
6. Table 10.6 Causes of osteoporosis and other disorders which may lead to decrease...
7. Table 10.7 Classification of osteogenesis imperfecta.
8. Table 10.8 Causes of hypercalcaemia.
Chapter 11
1. Table 11.1 Non‐pathological risk factors for obesity.
2. Table 11.2 Pathological causes of excess body weight.
3. Table 11.3 Factors which influence the central nervous system regulation of ener...
4. Table 11.4 Clinical signs to look for on examination.
5. Table 11.5 Clinical features of common syndromic causes of obesity (Figures 11.2...
6. Table 11.6 Complications of simple obesity.
Chapter 12
1. Table 12.1 Organs related to endocrine function or growth which are susceptible ...
2. Table 12.2 Procedures in or associated with the joint oncology‐endocrine clinic.
Chapter 13
1. Table 13.1 Definition of basic concepts in molecular genetics.
2. Table 13.2 Example of chromosome nomenclature following ISCN standard.
3. Table 13.3 Different types of mutations.

List of Illustrations

Chapter 1
1. Figure 1.1 Glucose homeostasis: a comparison of (a) the fed state and (b) the f...
2. Figure 1.2 Schematic representations of commonly used insulin regimens. (a) Ide...
3. Figure 1.3 (a) Idealized insulin action provided by an insulin regimen consisti...
4. Figure 1.4 Insulin injection sites.
5. Figure 1.5 Lipohypertrophy on the arm.
6. Figure 1.6 An Omnipod^® patch pump is on the left buttock and a Dexcom G5^®...
7. Figure 1.7 Background retinopathy showing scattered ‘dots and blots’ (microaneu...
8. Figure 1.9 Acanthosis nigricans on the neck.
9. Figure 1.10 Necrobiosis lipoidica diabeticorum above the ankle.
Chapter 2
1. Figure 2.1 Transition from the fed to the fasting state. (a) Between meals: glu...
2. Figure 2.2 Ear lobe crease in a child with Beckwith–Wiedemann syndrome.
3. Figure 2.3 An algorithm for evaluation of hypoglycaemia.
Chapter 3
1. Figure 3.1 The infancy, childhood and pubertal (ICP) concept of Karlberg showin...
2. Figure 3.2 (a) Height velocity and (b) typical individual height curves in girl...
3. Figure 3.3 The growth hormone–insulin‐like growth factor axis. GH = growth horm...
4. Figure 3.4 Schematic representation of effect of estradiol on growth. Estradiol...
5. Figure 3.5 Measurement of supine length.
6. Figure 3.6 Growth chart of a boy with constitutional delay in growth and adoles...
7. Figure 3.7 Intrauterine growth chart showing three patterns of intrauterine gro...
8. Figure 3.8 Three‐year‐old child with Turner syndrome showing ‘shield’ chest and...
9. Figure 3.9 Father and twin boys with Noonan syndrome.
10. Figure 3.10 Five children aged two to seven years from two consanguineous famil...
11. Figure 3.11 MRI scan showing ectopic posterior pituitary gland (1) and small an...
12. Figure 3.12 Increase in height velocity following successful resection of infla...
Chapter 5
1. Figure 5.1 Schematic representation of hypothalamic–pituitary–gonadal pathways....
2. Figure 5.2 Tanner staging showing breast stages 1–5, pubic hair and genital sta...
3. Figure 5.3 Precocious puberty with B4 development in a seven‐year‐old girl with...
4. Figure 5.4 Premature thelarche with Tanner stage 3 breast development.
5. Figure 5.5 Virilizing ovarian tumour (outline shaded on skin) causing pubic hai...
6. Figure 5.6 Hypothalamic hamartoma in a six‐year‐old boy, causing gelastic seizu...
7. Figure 5.7 Leydig cell tumour causing slight enlargement of left testis with co...
8. Figure 5.8 Growth chart of girl with delay in growth and adolescence showing at...
9. Figure 5.9 Idiopathic gynaecomastia in an adolescent boy.
Chapter 6
1. Figure 6.1 Schematic representation of TSH receptor, TSHR, and intracellular pa...
2. Figure 6.2 Schematic representation of thyroxine (T4) and triiodothyronine (T3)...
3. Figure 6.3 Conversion of thyroxine (T4) to tri‐iodothyronine (T3) by outer ring...
4. Figure 6.4 Changes in serum TSH and T4 concentrations in full term and prematur...
5. Figure 6.5 Isotope (a and b) and ultrasound (c–e) images from infants with thyr...
6. Figure 6.6 Girl with acquired hypothyroidism caused by Hashimoto's disease (a) ...
7. Figure 6.7 Girl with Graves' disease.
Chapter 7
1. Figure 7.1 Differentiation of the internal genitalia.
2. Figure 7.2 Differentiation of the external genitalia from the common anlage.
3. Figure 7.3 The spectrum of virilization of the external genitalia that can be o...
4. Figure 7.4 Pathways of steroid synthesis in adrenal gland and gonads. Those spe...
5. Figure 7.5 Main diagnostic possibilities in neonates with ambiguous genitalia.
Chapter 8
1. Figure 8.1 Schematic diagram of hypothalamic–pituitary–adrenal axis. b LPH, b l...
2. Figure 8.2 Pathways of steroid synthesis in adrenal cortex. Shaded area indicat...
3. Figure 8.3 Schematic diagram of aldosterone stimulation and action. A, aldoster...
4. Figure 8.4 A 10‐year‐old girl with Cushing's disease causing growth failure and...
5. Figure 8.5 Pigmentation and alopecia in a 10 year‐old‐girl who also had nail dy...
6. Figure 8.6 Penile enlargement, pubic hair development and scrotal laxity with p...
7. Figure 8.7 Severe virilization with fusion of labia majora and gross clitoral e...
8. Figure 8.8 Prader classification of five stages of virilization in the female i...
Chapter 10
1. Figure 10.1 Vitamin D metabolism.
2. Figure 10.2 Longitudinal growth of the long bones by enchondral bone formation.
3. Figure 10.3 Trousseau's sign.
4. Figure 10.4 X‐ray of the wrist of a child with rickets caused by vitamin D defi...
5. Figure 10.5 Rachitic rosary.
6. Figure 10.6 Bowing of the legs in a child with hypophosphataemic rickets.
7. Figure 10.7 X‐rays showing vertebral compression in a child with osteoporosis.
8. Figure 10.8 Williams syndrome.
Chapter 11
1. Figure 11.1 Influences on the hypothalamic control of satiety.
2. Figure 11.2 Prader–Willi syndrome.
3. Figure 11.3 Polydactyly in a child with Laurence–Moon–Biedl syndrome.
4. Figure 11.4 Shortening of the fourth metacarpal (a) and metatarsal (b) in pseud...
Chapter 12
1. Figure 12.1 Suggested model for a late effects clinic.
2. Figure 12.2 Growth following radiotherapy to brain and spine for medulloblastom...
Chapter 13
1. Figure 13.1 (a) schematic view of a normal meiosis for one chromosome pair, eac...
2. Figure 13.2 (a) The parts of a chromosome: the centromere divides the chromosom...
3. Figure 13.3 Pedigree analysis: (a) symbols used for drawing pedigree; (b) pedig...
4. Figure 13.4 Schematic representation of the possible fates of a given chromosom...
5. Figure 13.5 Flowchart of whole‐exome data analysis. The four steps are: base ca...

Edition History: edition 1, 2001
edition 2, 2007
edition 3, 2011

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Library of Congress Cataloging‐in‐Publication Data

Names: Donaldson, Malcolm D. C., author. | Gregory, John W., author. | Van Vliet, Guy, author. | Wolfsdorf, Joseph I., author. | Preceded by (work): Raine, Joseph E. Practical endocrinology and diabetes in children.
Title: Practical endocrinology and diabetes in children / Malcolm D.C. Donaldson, John W. Gregory, Guy Van‐Vliet, Joseph I. Wolfsdorf ; guest chapter “Genomics for the pediatric endocrinologist” contributed by Johnny Deladoëy.
Description: Fourth edition. | Hoboken : Wiley‐Blackwell, 2019. | Preceded by: Practical endocrinology and diabetes in children / Joseph E. Raine, Malcolm D.C. Donaldson, John W. Gregory, Guy Van Vliet. Third edition. Chichester, West Sussex, UK : Wiley‐Blackwell, 2011. | Includes bibliographical references and index. |
Identifiers: LCCN 2018048129 (print) | LCCN 2018049204 (ebook) | ISBN 9781119386193 (Adobe PDF) | ISBN 9781119386025 (ePub) | ISBN 9781119386032 (hardcover)
Subjects: | MESH: Endocrine System Diseases | Diabetes Mellitus | Child
Classification: LCC RJ420.D5 (ebook) | LCC RJ420.D5 (print) | NLM WS 335 | DDC 618.92/462–dc23
LC record available at https://lccn.loc.gov/2018048129

Cover Design: Wiley
Cover Image: © asiseeit/iStock.com

Preface to the Fourth Edition

It was Dr Joseph Raine, Consultant Paediatrician at The Whittington Hospital in London, who recognized the gap between the large detailed endocrine reference books and short reviews of topics in paediatric endocrinology and diabetes. Practical Endocrinology and Diabetes in Children was Joe's brainchild, aiming to provide a practical, concise and up‐to‐date account of paediatric endocrinology and diabetes in a readable, user‐friendly and portable format.

The first edition of the book featured an all‐British cast of co‐editors – Joe Raine, Malcolm Donaldson, John Gregory, and Martin Savage. Following its debut and favourable reception, the need to appeal to a wider readership was recognized, and Raymond Hintz (1939–2014) from Stanford University in California was invited to help with the second edition in 2007. For the third edition in 2011, Guy Van Vliet from Montreal in Canada joined the team to replace Martin Savage, further reinforcing the book's transatlantic credentials. Joe Raine has decided to stand down before this fourth edition and in his place Joseph Wolfsdorf from Harvard University has joined the team, taking on the diabetes and hypoglycaemia chapters.

Despite the addition of two North American editors, the book remains rooted in UK practice but with increasing North American and global emphasis. The accumulation of more data to impart, particularly in the field of diabetes, has resulted in a slightly longer book but it nevertheless retains the spirit of user‐friendliness and conciseness of Joe Raine's original vision.

As with previous editions, space has been given to describe the practical management of diabetes in detail. The trend towards consensus guidelines over the past decade is reflected in this new edition and at the end of each chapter there are sections on when to contact a specialist centre, controversial areas, transition, potential pitfalls, and future developments.

At the end of the chapters there are also four to five interesting cases which illustrate diagnostic difficulties and management choices. These ‘grey cases’ are intended to be helpful for those studying for postgraduate examinations.

The book is aimed primarily at paediatricians in general hospitals and at junior paediatric staff with an interest in paediatric endocrinology and diabetes. Nurses working in paediatric endocrinology wards, diabetic nurse specialists, and medical students should also find it useful. Three of the four editors (MD, JG, GVV) have been on the teaching faculty of the European Society for Paediatric Endocrinology (ESPE) Winter School. This experience has made us conscious of the practical difficulties encountered by doctors in resource‐limited countries and we hope that the text of our book reflects this awareness.

Finally, we are delighted to welcome Johnny Deladoëy from Montreal, Canada, who has contributed a guest chapter on genomics for the paediatric endocrinologist, in recognition of the importance of the area to modern practice, and the need for trainees and clinicians to have a basic working knowledge of molecular diagnosis.

MDCD, JWG, GVV, JIW

December 2018

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
β‐hCG: β‐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
GHBP: 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
PPARγ: 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 age
SHBG: sex hormone‐binding globulin
SHOX: Short Stature Homeobox
SIADH: syndrome of inappropriate antidiuretic hormone secretion
SMBG: self‐monitoring of blood glucose
SOD: septo‐optic dysplasia
SRY: sex‐determining region of the Y chromosome
StAR: steroidogenic acute regulatory (protein) T3 triiodothyronine
SV 21‐OHD: simple virilizing 21‐hydroxylase deficiency
SW 21‐OHD: salt‐wasting 21 hydroxylase deficiency
T3: triiodothyronine
T4: thyroxine
TBG: thyroid‐binding globulin
TDD: total daily dose
td: three times a day
TFT: thyroid function tests
Tg: thyroglobulin
TH: transient hypothyroxinaemia
TNDM: transient neonatal diabetes mellitus
TPO: thyroid peroxidase
TRH: thyrotrophin‐releasing hormone
TSH: thyroid‐stimulating hormone
TSHR: thyroid‐stimulating hormone receptor
TZD: thiazolidinedione
U&E: urea and electrolytes
UIC: urinary iodine concentration
UPD: uniparental disomy
VO₂: peak oxygen consumption
WBC: white blood cells
WES: whole exome sequencing
WHO: World Health Organization
ZnT8A: zinc transporter 8