Abbreviations

21-hydroxylase deficiency

25-hydroxyvitamin D

5-hydroxyindoleacetic acid

5-hydroxytryptamine

5-hydroxytryptophan

5α-dihydrotestosterone

β₂ microglobulin

β-human chorionic gonadotropin

sibling recurrence risk ratio

17β-hydroxysteroid dehydrogenase/isomerase

androstenedione

adenosine triphosphate (ATP)-binding cassette, subfamily C, member 8

angiotensin-converting enzyme

American College of Obstetricians and Gynecologists

acute coronary syndromes

adrenocorticotropic hormone

American Diabetes Association

A disintegrin and metalloprotease (proteins)

ADAM metallopeptidase with thrombospondin type 1 motif, 9

antidiuretic hormone

atypical ductal hyperplasia

autosomal dominant hypocalcaemia

autosomal dominant hypocalcaemic hypercalciuria

adenosine diphosphate

antral follicle count

α-fetoprotein

American Fertility Society

American Gastroenterological Association

adjustable gastric banding

advanced glycation end product

agouti-related protein

autoimmune hypophysitis

adrenal hypoplasia congenital

acquired hypocalciuric hypercalcaemia

apnoea/hypopnea index

Albright’s hereditary osteodystrophy

activated in breast cancer 1

autoimmune diseases

acquired immune deficiency syndrome

androgen insensitivity syndrome

autoimmune thyroid diseases

acute lymphoblastic leukaemia

acid labile subunit

anti-müllerian hormone

α-amino-5-hydroxy-3-methyl-4-isoxazole propionic acid

adenosine monophosphate-activated protein kinase

analysis of variance

atrial natriuretic peptide

acridine orange

autoimmune oophoritis

antigen presenting cell

autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy syndrome

apolipoprotein B

autoimmune polyendocrine syndrome

autoimmune polyglandular syndrome

androgen receptor

angiotensin-receptor blocker

arcuate nucleus

adult respiratory distress syndrome

androgen response element

assisted reproduction techniques

antisperm antibodies

American Society for Reproductive Medicine

anaplastic thyroid cancer

antithyroid drug medication

adenosine triphosphate

area under (the) curve

arginine vasopressin

bone age

BTB and CNC homology 1, basic leucine zipper transcription factor 2 protein (human)

B-cell activating factor belonging to the TNF family

Bardet–Biedl syndrome

B-cell lymphoma

B-cell receptor

brain-derived neurotropic factor

biologically effective dose

bone mineral content

bone mineral density

body mass index

bone morphogenetic protein

bone marrow transplantation

brain natriuretic peptide

bisphenol A

biliopancreatic diversion

body surface area

bilateral salpino-oophorectomy

British Society of Paediatric Endocrinology and Diabetes

broad complex, tramtrack, bric-a-brac

Beckwith–Wiedemann syndrome

chromosome 12 open reading frame 30

19 carbon

C1q and tumour necrosis factor related protein 6

congenital adrenal hyperplasia

complete androgen insensitivity syndrome

calcium/calmodulin-dependent protein kinase 1D

cyclic AMP

computer-aided sperm analysis

calcium-sensing receptor

congenital bilateral absence of the vas deferens

corticosteroid-binding globulin

cognitive behaviour therapy

clomiphene citrate

cholecystokinin

chemokine (C-C motif) receptor 5

Childhood Cancer Survival Study

surface marker

cell division cycle 123 homolog (Saccharomyces cerevisiae)

congenital disorders of glycosylation

constitutional delay of growth and puberty

CDK5 regulatory subunit associated protein 1-like 1

cyclin-dependent kinase

cholesterol ester transfer protein

cystic fibrosis

cardiofaciocutaneous

cystic fibrosis transmembrane regulator

chromogranin A

continuous glucose monitoring

cyclic guanosine monophosphate

continuous glucose monitoring system

calcitonin gene-related protein

congenital hyperinsulinism of infancy

complete molar pregnancies

confidence interval

carcinoma in situ

Creutzfeldt–Jakob disease

congenital lipoid adrenal hyperplasia

C-type lectin domain family 16, member A

carbimazole

cytomegalovirus

cap ‘n’ collar; family of basic leucine zipper transcription factors

central nervous system

carbon dioxide

combined oral contraceptive

controlled ovarian hyperstimulation

Calendar of Premenstrual Experiences

cyclic AMP response element

cyclic AMP response element binding protein

cyclic AMP (cAMP) responsive element modulator (CREM)

chronic renal failure

corticotropin-releasing hormone

C-reactive protein

conformal radiotherapy

Cushing’s syndrome

cerebrospinal fluid

continuous subcutaneous insulin infusion

C-terminal Src kinase

central salt wasting

computed tomography

cortical thymic epithelial cells

connective tissue growth factor

cytotoxic T lymphocyte

cytotoxic T-lymphocyte-associated protein 4 (human); cytotoxic T-lymphocyte antigen 4

cytotoxic T lymphocyte

cathepsin H

congenital unilateral absence of the vas deferens

cardiovascular disease

deiodinase 1–3

diacylglycerol

disability-adjusted life year

dosage-sensitive sex reversal-adrenal hypoplasia gene 1

Diabetes Control and Complications Trial

1-desamino-8-d-arginine vasopressin

dichlorodiphenyldichloroethylene

dipsogenic diabetes insipidus

developmental delay, epilepsy, and neonatal diabetes

diethylstilbestrol

double embryo transfer

denaturing gradient gel electrophoresis

docosahexaenoic acid

dehydroepiandrosterone

dehydroepiandrosterone sulfate

dihydrotestosterone

diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

diiodotyrosine

duodenal–jejunal bypass

diabetic ketoacidosis

depo-medroxyprogesterone acetate

deoxyribonucleic acid

dysthyroid optic neuropathy

dipeptidyl-peptidase 4; also known as adenosine deaminase complexing protein 2 or CD26 antigen

disorders of sex development

Diagnostic and Statistical Manual of Mental Disorders, 4th edition

differentiated thyroid cancer

dithiothreitol

dual oxidase

deep venous thrombosis

experimental autoimmune thyroiditis

electrocardiogram

enterochromaffin-like

extracellular matrix

ethylenediaminetetraacetic acid

electroencephalogram

epidermal growth factor

epidermal growth factor receptor

eukaryotic translation initiation factor 2-alpha kinase 3

eukaryotic initiation factors

enzyme-linked immunosorbent assay

European Medicines Agency

estimated mature height

external masculinization score

eicosapentaenoic

erythropoietin

oestrogen receptor

v-erb-b2 erythroblastic leukaemia viral oncogene homolog 3 (avian) [Homo sapiens]

elk-related tyrosine kinase

European Society of Human Reproduction and Embryology

European Society of Paediatric Endocrinology and Growth Hormone Research Society

erythrocyte sedimentation rate

European Group on Graves’ Orbitopathy

endoscopic ultrasonography

free androgen index

Fas ligand

[¹⁸F]2-fluoro-2-deoxy-d-glucose

familial dysalbuminaemic hyperthyroxinaemia

forced expiratory volume in 1 s

free fatty acids

fibroblast growth factor

fibroblast growth factor receptor-3

functional hypothalamic anovulation

familial hypocalciuric hypercalcaemia

familial hypokalaemic periodic paralysis

fluorescence in situ hybridization

fine-needle aspiration

fine-needle aspiration biopsy

forkhead box P3 protein, human

fasting plasma glucose

fractionated stereotactic conformal radiotherapy

follicle-stimulating hormone

fractionated stereotactic radiotherapy

familial short stature

follicular thyroid cancer

fat mass and obesity associated

glucose-6-phosphate dehydrogenase

γ-aminobutyric acid

glutamic acid decarboxylase; glutamate decarboxylase

glutamic acid decarboxylase 2; glutamate decarboxylase 2

GTPase activating protein

gelatin agglutination test

glucokinase (hexokinase 4)

glucokinase (hexokinase 4) regulator

glial cells missing 2

gas chromatography mass spectrometry

granulocyte colony-stimulating factor

gestational diabetes

glomerular filtration rate

γ-glutamyl transpeptidase

growth hormone

growth hormone-binding protein

growth hormone deficiency

growth hormone insensitivity

growth hormone insensitivity syndrome

growth hormone receptor

growth hormone-releasing hormone

growth hormone-releasing hormone receptor

growth hormone-releasing peptides

glycaemic index

gastric inhibitory polypeptide; glucose-dependent-insulinotropic polypeptide

GLI-similar family zinc finger protein 3

glucagon-like peptide-1

glucose transporter type 4

gonadotropin-releasing hormone

gonadotropin-releasing hormone analogue

Genetics of Kidneys in Diabetes

Graves’ ophthalmopathy quality of life

glucocorticoid receptor

glucocorticoid response element

glycogen storage disease

glucagon stimulation test

gestational trophoblastic disease

gestational trophoblastic neoplasia

guanosine triphosphate

gestational trophoblast tumour

gross tumour volume

growth velocity

hyperandrogenism

highly active antiretroviral therapy

3-hydroxy-acyl-CoA dehydrogenase

hyperandrogenism, insulin resistance and acanthosis nigricans

glycated haemoglobin

heparin-binding epidermal growth factor

home blood glucose monitoring

hexachlorobenzene

hydrocortisone day curve

human chorionic gonadotropin

hypothalamic diabetes insipidus

high density lipoprotein

hypoparathyroidism, deafness, and renal anomalies syndrome

4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid

human embryonic stem cells

hydroxyethyl starch

Human Fertilization and Embryology Authority

human growth hormone

hypogonadotropic hypogonadism

haematopoietically expressed homoeo box

human herpesvirus

hyperinsulinism of infancy

hyperinsulinism/hyperammonaemia

human immunodeficiency virus

human leucocyte antigen

3-hydroxy-3-methylglutaryl

high-mobility group

human menopausal gonadotropin

hydroxymethylglutaryl CoA

hepatocyte nuclear factor

homoeostatic model assessment

hyperosmolar nonketotic state

hypo-osmotic swelling

hypothalamic–pituitary–adrenal

high-performance liquid chromatography

hypothalamic–pituitary–gonadal

hypothalamic–pituitary–thyroid

hypothalamic–pituitary–thyroid–periphery

human papillomavirus

hazard ratio

hormone replacement therapy

3B-hydroxysteroid dehydrogenase 2

hysterosalpingography

heat shock proteins

herpes simplex virus

Hashimoto’s thyroiditis

human T-cell lymphotropic virus type I

Hounsfield unit

height velocity

insulinoma-associated protein 2

insulin autoantibodies

intercellular adhesion molecule 1

International Classification of Diseases, 10th Revision

inner cell mass

inducible T-cell costimulator

intracytoplasmic sperm injection

C-telopeptide pyridinoline cross-links of type I collagen

iodine deficiency disorders

insulin-dependent diabetes mellitus

insulin-degrading enzyme

intermediate density lipoprotein

infant diabetes mellitus

Indian Diabetes Prevention Programme

International Federation of Clinical Chemistry

impaired fasting glycaemia; impaired fasting glucose

interferon induced with helicase C domain 1

immunofluorometric assays

interferon

Immunoglobulin

insulin-like growth factor

insulin -like growth factor binding protein

insulin-like growth factor 1

insulin-like growth factor 1 receptor

isolated growth hormone deficiency

islet-specific glucose-6-phosphatase catalytic subunit related protein

impaired glucose tolerance

immunohistochemical

isolated hypogonadotropic hypogonadism

invariant chain

interleukin

intramuscular

intensity-modulated radiotherapy

international normalized ratio

insulin

insulin receptor

inositol 1,4,5-trisphosphate

immunodysregulation polyendocrinopathy enteropathy X-linked (syndrome)

index of potential height

intelligence quotient

immune radio binding

inner ring deiodination

immunoradiometric assays

insulin receptor substrate 1

International Society for Pediatric and Adolescent Diabetes

idiopathic short stature

International Society for Stem Cell Research

insulin tolerance test

intrauterine device

intrauterine growth restriction

intrauterine insemination

intravenous

in vitro fertilization

in vitro fertilization and embryo transfer

Janus tyrosine kinase

juxtaposed with another zinc finger gene 1 protein, human

juvenile myelomonocytic leukaemia

c-Jun N-terminal kinase

ATP-sensitive potassium channel

Kallmann’s syndrome

Wilms’ tumor protein

latent autoimmune diabetes

lecithin cholesterol acyl transferase

locus coeruleus-noradrenergic

locus control region

low-density lipoprotein

LDL receptor

large-for-gestational-age

leucine-rich repeat-containing G protein-coupled receptor 5

luteinizing hormone

luteinizing hormone-releasing hormone

leukaemia inhibitory factor

late-onset hypogonadism

loss of heterozygosity

luteal phase deficiency

lipoprotein lipase

LDL receptor-related protein

lymphoid-specific tyrosine phosphatase

mitogen activated protein

mitogen-activated protein kinase

mixed antiglobulin reaction test

melanocortin 4 receptor

medium chain acyl coenzyme A dehydrogenase deficiency

master cell bank

melanin-concentrating hormone

monocyte chemoattractant protein-1

macrophage colony-stimulating factor

maturational delay

melanoma differentiation-associated protein 5

myeloid dendritic cell

multiple daily injection

medical oophorectomy

mitochondrialencephalopathy, lactic acidosis, stroke-like episodes syndrome

multiple endocrine neoplasia

microsurgical epididymal sperm aspiration

recombinant methionyl growth hormone

mixed gonadal dysgenesis

major histocompatibility complex

menopausal hormone therapy

metaiodobenzylguanidine

maternally inherited diabetes and deafness

müllerian inhibitory substance

monoiodotyrosine

multileaf collimator

methimazole

matrix metalloproteinase

maturity-onset diabetes of the young

molar pregnancy

medroxyprogesterone acetate

myeloproliferative disorders

mid-parental height

multiple pituitary hormone deficiency

mucopolysaccharidosis

mineralocorticoid receptor

magnetic resonance imaging

Mayer–Rokitansky–Kuster–Hauser

mass spectrometry

melanocyte-stimulating hormone

male-specific region of the Y chromosome

medullary thyroid carcinoma

mitochondrial DNA

medullary thymic epithelial cells

melatonin receptor 1B

mullerian, renal, cervical spine syndrome

nicotinamide-adenine-dinucleotide

non-alcoholic fatty liver disease

nonadrenergic-noncholinergic

nonalcoholic steatohepatitis

nonclassic congenital adrenal hyperplasia

neuro-cardio-facial-cutaneous

National Cooperative Growth Study

National Center for Health Statistics

National Diabetes Data Group

nephrogenic diabetes insipidus

nonesterified fatty acid

neuroendocrine tumour

neurogenic differentiation 1

neurofibromatosis

nuclear factor of activated T cells

Nuclear factor κ-B

normal glucose tolerance

National Health and Nutrition Examination Survey

neonatal primary hyperparathyroidism

National Institute for Health and Clinical Excellence

National Institute of Child Health and Human Development

neonatal intensive care unit

noninsulin-dependent diabetes mellitus

normosmic idiopathic hypogonadotropic hypogonadism

sodium-iodide symporter

natural killer

N-methyl-d-aspartate

nitrogen oxide

non-obese diabetic mice; animal model

notch 2 (notch homolog 2 (Drosophila))

neuropeptide Y

Noonan’s syndrome

nonsteroidal anti-inflammatory drug

neonatal severe hyperparathyroidism

nonsynonymous single nucleotide polymorphism

nontoxic goitre

oligo and/or anovulation

oral glucose tolerance test

ovarian hyperstimulation syndrome

optic nerve hypoplasia

osteopontin

oestrogen receptor

outer ring deiodination

open reading frame

obstructive sleep apnoea syndrome

P450 cholesterol side chain cleavage enzyme

partial pressure of carbon dioxide

polycyclic aromatic hydrocarbons

plasminogen activator inhibitor 1

Partial androgen insensitivity syndrome

periodic acid–Schiff

paired box 4

polybrominated biphenyls

polybrominated diphenyl ethers

peripheral-type benzodiazepine receptor

polychlorinated biphenyls

polychlorinated dibenzofurans

polycystic ovary

posterior communicating artery

polycystic ovary syndrome

polymerase chain reaction

plasmacytoid dendritic cell

pancreatic and duodenal homoeo box 1

positron emission tomography

progression-free survival

prostaglandin

preimplantation genetic diagnosis

prostaglandin H synthase

preimplantation genetic screening

partial molar pregnancies

pseudohypoparathyroidism

primary hyperparathyroidism

propeptide of type I procollagen

pituitary human growth hormone

protein kinase A

protein kinase C

placental/germ alkaline phosphatase

phospholipid transfer protein

premenstrual dysphoric disorder

persistent müllerian duct syndrome

premenstrual syndrome

premenstrual tension syndrome

permanent neonatal diabetes mellitus

per oral

premature ovarian failure

proopiomelanocortin

persistent organohalogen pollutant

P450 oxidoreductase

Pancreatic polypeptide

peroxisome proliferator-activated receptor

inorganic pyrophosphate

proton pump inhibitor

postpartum thyroiditis

protein kinase C, theta

prolactin

prolactin receptor

protein precursor of thyrotropin-releasing hormone

prostate specific antigen

psychosocial deprivation

placental site trophoblastic tumours

pilosebaceous unit

papillary thyroid cancer

pancreas-specific transcription factor 1a

parathyroid hormone

parathyroid hormone-related protein

protein tyrosine phosphatase nonreceptor

propylthiouracil

planning target volume

paraventricular nucleus

Prader–Willi syndrome

quantitative computed tomography

relative absolute difference

radioactive iodine therapy

radioactive iodine uptake

renin–angiotensin system

retinoblastoma protein

RNA binding motif protein 17

randomized controlled trial

rapid eye movement

recombinant human growth hormone

recombinant human thyroid-stimulating hormone

radioimmunoassays

receiver–operating characteristic (curve)

reactive oxygen species

resistant ovary syndrome

retroperitoneal lymph node dissection

retinoid X receptor

Roux-en-Y gastric bypass

subarachnoid haemorrhage

suberoylanilide hydroxamic acid

specific androgen receptor modulators

subcutaneous

single-cell gel electrophoresis

short chain 3-hydroxy-acyl-CoA dehydrogenase

somatic cell nuclear transfer

Sertoli cell-only

sperm chromatin structural assay

standard deviation

succinate dehydrogenase

sodium dodecyl sulfate

standard deviation score

surveillance epidemiology and end results database

self-expanding metallic stent

selective oestrogen receptor modulators

single embryo transfer

steroidogenic factor-1

small for gestational age

sex hormone-binding globulin

short stature homoeobox-containing gene

syndrome of inappropriate antidiuresis

Scottish Intercollegiate Guideline Network

solute carrier family 30 (zinc transporter), member 8

systemic lupus erythematosus

self-monitoring of blood glucose

standardized mortality ratio

somatostatin

single nucleotide polymorphism

signal-to-noise ratio

serotonin norepinephrine reuptake inhibitors

septo-optic dysplasia

sperm penetration assay

single photon emission computed tomography

scavenger receptor class A

scavenger receptor class B type 1

sleep-related breathing disorders

steroid receptor coactivator proteins

Silver–Russell syndrome

somatostatin receptor scintigraphy

short stature

single strand conformation polymorphism

saturated solution of potassium iodide

selective serotonin reuptake inhibitors

short Synacthen test

somatostatin

somatostatin receptor

steroid acute regulatory protein

steroidogenic acute regulatory protein

signal transducers and activators of transcription

stanniocalcin

sulphonylurea receptor 1

diiodothyronine

triiodothyronine

thyroxine/tetraiodothyronine

tag single nucleotide polymorphism

testicular adrenal rest tumour

tray agglutination test

tubulin chaperone E

thyroxine-binding globulin

traumatic brain injury

TSH-binding inhibition

TSH-binding inhibiting immunoglobulins

transcription factor 7-like 2

T-cell receptor

testicular dysgenesis syndrome

terminal deoxynucleotide transferase

testicular sperm aspiration

testicular sperm extraction

follicular helper T lymphocytes

testicular germ cell cancer

transforming growth factor

T helper

Target height

subset of T helper cells (Th1) producing interleukin-17