{"title":"Adrenal gland disorders","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780199232222.003.0068","DOIUrl":"https://doi.org/10.1093/med/9780199232222.003.0068","url":null,"abstract":"\u0000\u0000\u0000 • The fetal adrenal gland has an additional cortex which atrophies after birth.\u0000 \u0000\u0000 • Postnatally, there are three zones to the cortex:\u0000 \u0000\u0000\u0000 ◦ glomerulosa producing mineralocorticoids\u0000 \u0000\u0000 ◦ fasciculata producing cortisol\u0000 \u0000\u0000 ◦ reticularis producing androgens.\u0000 \u0000\u0000 • Adrenarche is a maturation process from age 6 years with an increase in androgens.\u0000 \u0000\u0000 • Acute adrenal crisis presents with:\u0000 \u0000\u0000\u0000 ◦ low sodium\u0000 \u0000\u0000 ◦ high potassium\u0000 \u0000\u0000 ◦ cortisol low/undetectable.\u0000 \u0000\u0000 • ACTH raised in primary causes, low in secondary.\u0000 \u0000\u0000 • Primary insufficiency may be congenital dysplasia (adrenal hypoplasia congenita) and enzyme blocks: congenital adrenal hyperplasia (CAH).\u0000 \u0000\u0000 • Acquired causes include autoimmune adrenalitis (Addison’s disease) and tuberculosis.\u0000 \u0000\u0000 • Secondary insufficiency arises due to adrenocorticotropic hormone deficiency from hypopituitarism (congenital or acquired).\u0000 \u0000\u0000 • CAH, e.g. 21-hydroxylase deficiency (commonest), can present with virilization of a newborn female, hyperandrogenism, or salt-wasting adrenal crisis.\u0000 \u0000\u0000 • Iatrogenic treatment is commonest cause of adrenal steroid excess.\u0000 \u0000\u0000 • Other causes are adrenal adenoma/carcinoma (Cushing syndrome) or pituitary adenoma (Cushing disease).","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114770572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diabetes mellitus","authors":"Gary Butler, Jeremy Kirk","doi":"10.1093/med/9780198786337.003.0005","DOIUrl":"https://doi.org/10.1093/med/9780198786337.003.0005","url":null,"abstract":"\u0000\u0000\u0000 • Diabetes mellitus is a chronic hyperglycaemia state, caused by defects in:\u0000 \u0000\u0000\u0000 ◦ insulin secretion\u0000 \u0000\u0000 ◦ insulin action\u0000 \u0000\u0000 ◦ both.\u0000 \u0000\u0000 • Type 1 diabetes accounts for ~95% of cases.\u0000 \u0000\u0000\u0000 ◦ Rising incidence in UK (25/100,000 children/year) now appears to be stabilizing.\u0000 \u0000\u0000 ◦ Peaks at younger age (4–6 years of age) and also puberty.\u0000 \u0000\u0000 • Therapy:\u0000 \u0000\u0000\u0000\u0000\u0000 ■ With subcutaneous insulin (multiple daily injections, continuous subcutaneous insulin infusion (CSII) (less used now, twice- and thrice-daily mixtures)) to mimic physiological secretion, maintain euglycaemia, minimize hypoglycaemic episodes and diabetic ketoacidosis.\u0000 \u0000\u0000 ◦ Monitoring:\u0000 \u0000\u0000\u0000 ■ Minimum of five self-monitored blood glucose measurements a day recommended. Continuous glucose monitoring increasingly utilized, especially with CSII.\u0000 \u0000\u0000 ■ Overall control assessed using glycated haemoglobin.\u0000 \u0000\u0000 • Outcome:\u0000 \u0000\u0000\u0000 ■ Clear evidence that good diabetic control associated with reduction in complications (micro- and macrovascular).\u0000 \u0000\u0000 ■ Screening recommended at an early stage to detect complications and prevent progression.\u0000 \u0000\u0000 • Type 2 diabetes:\u0000 \u0000\u0000\u0000 ◦ Increasingly recognized in children/adolescents.\u0000 \u0000\u0000 ◦ Increased incidence in:\u0000 \u0000\u0000\u0000 ■ females\u0000 \u0000\u0000 ■ ethnic minorities\u0000 \u0000\u0000 ■ overweight/obese\u0000 \u0000\u0000 ■ those with family history.\u0000 \u0000\u0000 ◦ Part of metabolic syndrome: T2DM/insulin resistance, hypertension, hyperlipidaemia, cardiovascular disease, adrenarche/polycystic ovarian syndrome.\u0000 \u0000\u0000 ◦ A combination of insulin resistance and (relative) insulin deficiency; oral hypoglycaemics may be appropriate (at least initially).\u0000 \u0000\u0000 • Other forms of diabetes (uncommon):\u0000 \u0000\u0000\u0000 ◦ Maturity-onset diabetes of the young (MODY):\u0000 \u0000\u0000\u0000 ■ autosomal dominant inheritance; dependent on type, variable\u0000 \u0000\u0000 ■ response to oral hypoglycaemics\u0000 \u0000\u0000 ■ development of microvascular complications.\u0000 \u0000\u0000 ◦ Association with syndromes, e.g. Wolfram, Walcott–Rallison, Prader–Willi syndrome.\u0000 \u0000\u0000 ◦ Cystic fibrosis-related diabetes:\u0000 \u0000\u0000\u0000 ■ not autoimmune in origin, due to combination of insulin deficiency/resistance\u0000 \u0000\u0000 ■ increasing incidence with age\u0000 \u0000\u0000 ■ treatment is with insulin.","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"125 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115420215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Thyroid gland disorders","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780199232222.003.0073","DOIUrl":"https://doi.org/10.1093/med/9780199232222.003.0073","url":null,"abstract":"\u0000\u0000\u0000 • The thyroid gland produces all of the T4 and 20% of T3.\u0000 \u0000\u0000 • Congenital hypothyroidism is caused by:\u0000 \u0000\u0000\u0000 ◦ anatomical defects: agenesis/dysgenesis, ectopic, sublingual\u0000 \u0000\u0000 ◦ inborn errors of thyroid hormone metabolism\u0000 \u0000\u0000 ◦ secondary (pituitary thyroid-stimulating hormone (TSH)) or tertiary (hypothalamic thyrotropin-releasing hormone) deficiency\u0000 \u0000\u0000 ◦ iodine deficiency (commonest cause worldwide of hypothyroidism, patients are usually euthyroid).\u0000 \u0000\u0000 • Genetic causes are rare.\u0000 \u0000\u0000 • In most countries worldwide, newborn TSH screening is performed at 0–5 days of age. Treatment with l-thyroxine is (usually) lifelong.\u0000 \u0000\u0000 • Neonatal thyrotoxicosis due to transplacental passage of thyroid-stimulating immunoglobulins (TSIs) from mothers with thyrotoxicosis/Graves’ disease and may require antithyroid drugs (ATDs).\u0000 \u0000\u0000 • Acquired autoimmune hypothyroidism in children and adolescents:\u0000 \u0000\u0000\u0000 ◦ is caused by lymphocytic infiltration of the thyroid gland (Hashimoto’s disease/thyroiditis)\u0000 \u0000\u0000 • raised thyroid peroxidase antibodies are diagnostic\u0000 \u0000\u0000 • treatment is with l-thyroxine.\u0000 \u0000\u0000 • Hyperthyroidism (Graves’ disease, Hashimoto’s stimulatory phase (Hashitoxicosis)):\u0000 \u0000\u0000\u0000 ◦ is caused by autoantibodies to the TSH receptor (TSI, or TRAbthyrotropin receptor antibody)\u0000 \u0000\u0000 ◦ the first-line drug of choice is the ATD carbimazole\u0000 \u0000\u0000 ◦ thyroidectomy or radioiodine treatment can be considered for drug-resistant cases or after relapse.\u0000 \u0000\u0000 • Thyroid cancer is rare in childhood and adolescence, usually presenting with a nodule, but can be part of the multiple endocrine neoplasia syndromes.","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"99 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125411670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Puberty and its disorders","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780199232222.003.0018","DOIUrl":"https://doi.org/10.1093/med/9780199232222.003.0018","url":null,"abstract":"\u0000\u0000\u0000 • Puberty is defined as the acquisition of secondary sexual characteristics, with a view to reproductive capability.\u0000 \u0000\u0000 • Assessment of puberty can be done by Tanner stages or the puberty phases.\u0000 \u0000\u0000 • Timing of pubertal onset and sequence of changes is carefully controlled.\u0000 \u0000\u0000 • Premature sexual maturation:\u0000 \u0000\u0000\u0000 ◦ <8 years in girls; menarche <11 years\u0000 \u0000\u0000 ◦ <9 years in boys.\u0000 \u0000\u0000 • Central precocious puberty or gonadotropin-dependent precocious puberty:\u0000 \u0000\u0000\u0000 ◦ hormone secretion is similar to normal puberty\u0000 \u0000\u0000 ◦ may be idiopathic, genetic, or secondary to central nervous system/pituitary tumour or insult\u0000 \u0000\u0000 ◦ treatment is with gonadotropin-releasing hormone analogues.\u0000 \u0000\u0000 • Gonadotropin-independent precocious puberty (independent source of sex steroid, e.g. gonadal tumour):\u0000 \u0000\u0000\u0000 ◦ treatment should address the primary cause.\u0000 \u0000\u0000 • Late puberty:\u0000 \u0000\u0000\u0000 ◦ pubertal events within the later normal range.\u0000 \u0000\u0000 • Delayed onset of puberty:\u0000 \u0000\u0000\u0000 ◦ absence of secondary sexual characteristics:\u0000 \u0000\u0000\u0000 ■ >13 years in a girl\u0000 \u0000\u0000 ■ >14 years in a boy\u0000 \u0000\u0000 • Central causes (low follicle-stimulating hormone (FSH)/luteinizing hormone (LH)):\u0000 \u0000\u0000\u0000 ◦ chronic illness\u0000 \u0000\u0000 ◦ eating disorders\u0000 \u0000\u0000 ◦ physiological\u0000 \u0000\u0000 ◦ hypogonadotropic hypogonadism.\u0000 \u0000\u0000 • Peripheral causes (high FSH/LH):\u0000 \u0000\u0000\u0000 ◦ gonadal dysgenesis including chromosomal syndromes, e.g. Turner, Klinefelter\u0000 \u0000\u0000 ◦ gonadal damage including cancer treatments.\u0000 \u0000\u0000 • Treatment:\u0000 \u0000\u0000\u0000 ◦ low-dose sex hormone to induce growth and secondary sexual characteristics\u0000 \u0000\u0000 ◦ recombinant FSH/LH to induce fertility potential.","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130311876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Endocrine emergencies","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780198786337.003.0013","DOIUrl":"https://doi.org/10.1093/med/9780198786337.003.0013","url":null,"abstract":"\u0000\u0000\u0000 • This chapter is intended to be brief, providing readily accessible information required in an endocrine emergency in an infant, child, or adolescent.\u0000 \u0000\u0000 • Endocrine emergencies are rare but because of this they are usually unexpected.\u0000 \u0000\u0000 • Always take a few moments to assess the situation.\u0000 \u0000\u0000 • Getting the clinical signs and obtaining the right biochemical samples at the time is often the key to getting the correct diagnosis and management.\u0000 \u0000\u0000 • The theory and background about each problem are dealt with in the relevant chapter.\u0000 \u0000\u0000 • The key endocrine emergencies are:\u0000 \u0000\u0000 • diabetic ketoacidosis\u0000 \u0000\u0000 • hypoglycaemia\u0000 \u0000\u0000 • adrenal insufficiency\u0000 \u0000\u0000 • hypocalcaemia\u0000 \u0000\u0000 • hypercalcaemia\u0000 \u0000\u0000 • acute diabetes insipidus\u0000 \u0000\u0000 • syndrome of inappropriate antidiuretic hormone secretion\u0000 \u0000\u0000 • hyperthyroid crisis\u0000 \u0000\u0000 • hypothyroid coma\u0000 \u0000\u0000 • unclear sex (ambiguous genitalia—disorders of sex development).","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134249887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Obesity","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780198786337.003.0006","DOIUrl":"https://doi.org/10.1093/med/9780198786337.003.0006","url":null,"abstract":"\u0000\u0000\u0000 • Obesity is defined as: ‘An excess of body fat frequently resulting in a significant impairment of health and longevity’.\u0000 \u0000\u0000 • In most cases obesity is not due to an underlying endocrine disorder, although it may produce endocrine morbidity such as type 2 diabetes.\u0000 \u0000\u0000 • Although there are a number of different methods to assess overweight and obesity, the most common is body mass index (BMI): weight (kg)/height (m)2.\u0000 \u0000\u0000 • Classification is:\u0000 \u0000\u0000 • primary: exogenous or ‘simple’ obesity\u0000 \u0000\u0000 • secondary:\u0000 \u0000\u0000\u0000 ■ identified genetic syndromes, e.g. Prader–Willi, Bardet–Biedl, pseudohypoparathyroidism\u0000 \u0000\u0000 ■ monogenic disorders, e.g. leptin deficiency, leptin/melanocortin receptor defects\u0000 \u0000\u0000 ■ CNS disease, e.g. hypothalamic obesity\u0000 \u0000\u0000 ■ endocrine disorders, e.g. hypothyroidism, Cushing syndrome, growth hormone deficiency, precocious puberty\u0000 \u0000\u0000 ■ immobility, e.g. cerebral palsy\u0000 \u0000\u0000 ■ iatrogenic.\u0000 \u0000\u0000 • Generally, children with obesity which is:\u0000 \u0000\u0000 • primary often have a family history, tall stature, advanced bone age, and no dysmorphic features\u0000 \u0000\u0000 • secondary often have short stature, delayed bone age, dysmorphic features, and developmental delay.\u0000 \u0000\u0000 • Complications of obesity are multisystem: metabolic, cardiovascular, respiratory, gastrointestinal/hepatic, orthopaedic, neurological, dermatological, gynaecological, and psychological.\u0000 \u0000\u0000 • Therapy is aimed at modifiable factors restoring the balance between energy intake (e.g. dietary) and expenditure (e.g. exercise), and preferably a combination of both along with counselling and behaviour modification. There is currently only limited data on the benefits of pharmacotherapy and bariatric surgery.","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"25 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141227493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Gender incongruence","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780198786337.003.0012","DOIUrl":"https://doi.org/10.1093/med/9780198786337.003.0012","url":null,"abstract":"\u0000\u0000\u0000 • Gender dysphoria is a disassociation with birth gender and identification with the opposite gender.\u0000 \u0000\u0000 • The diagnosis needs to be made by an experienced mental health practitioner in accord with the Endocrine Society and World Professional Association for Transgender Health guidelines.\u0000 \u0000\u0000 • Most presenting in childhood are less likely to go onto physical treatment, whereas the majority of adolescents may wish to socially and physically transition.\u0000 \u0000\u0000 • Appropriate help and support should only be provided by an integrated medical and psychological/mental health team working in collaboration, with a psychosocial assessment preceding the medical review.\u0000 \u0000\u0000 • Initial medical assessment should be supportive only. A physical diagnostic approach is not required, and it is not considered similar to a disorder of sex development.\u0000 \u0000\u0000 • Counselling about fertility loss is required.\u0000 \u0000\u0000 • Endocrine supportive treatment is with gonadotropin-releasing hormone analogues initially.\u0000 \u0000\u0000 • Cross-sex hormone/gender-affirming hormone therapy may be considered after further counselling.\u0000 \u0000\u0000 • Surgical gender reassignment is carried out in adulthood only after additional detailed counselling.","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132047755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hypoglycaemia","authors":"G. Butler, J. Kirk","doi":"10.1093/med/9780198786337.003.0007","DOIUrl":"https://doi.org/10.1093/med/9780198786337.003.0007","url":null,"abstract":"\u0000\u0000\u0000 • Hypoglycaemia is defined as ‘A plasma glucose concentration low enough to cause symptoms and/or signs of impaired brain function’.\u0000 \u0000\u0000 • Cut-offs are contentious, ranging from <2.2 to <4.0 mmol/L, and are dependent on age, diagnosis, and also availability/usage of alternative metabolic fuels such as ketones.\u0000 \u0000\u0000 • May be transient or persistent, dependent on diagnosis.\u0000 \u0000\u0000 • Causes broadly due to:\u0000 \u0000\u0000\u0000 ◦ decreased glucose including prematurity, inborn errors of metabolism, hypopituitarism, adrenal insufficiency (primary and secondary), and prolonged fasting\u0000 \u0000\u0000 ◦ increased glucose utilization including infant of diabetic mother, hyperinsulinaemia, perinatal asphyxia, and various syndromes, e.g. Beckwith–Wiedemann.\u0000 \u0000\u0000 • Endocrine causes of hypoglycaemia include growth hormone deficiency, adrenal insufficiency (primary and secondary), and (?) hypothyroidism.\u0000 \u0000\u0000 • Metabolic disorders cause hypoglycaemia via impaired:\u0000 \u0000\u0000\u0000 ◦ mobilization of glucose stores\u0000 \u0000\u0000 ◦ gluconeogenesis\u0000 \u0000\u0000 ◦ alternative energy sources\u0000 \u0000\u0000 ◦ liver function.\u0000 \u0000\u0000 • Hyperinsulinaemic hypoglycaemia presents with increased glucose requirements (>8 mg/kg/minute) and non-ketotic hypoglycaemia. Diagnosis confirmed by demonstrating raised/detectable insulin/C-peptide during hypoglycaemia. Genotyping may assist with not only diagnosis but direct therapy (medical and surgical).","PeriodicalId":217485,"journal":{"name":"Paediatric Endocrinology and Diabetes","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130807422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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