Endocrine Abstracts

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

Selective transsphenoidal adenomectomy remains the accepted first line treatment for Cushing’s disease (CD), until recently by microscopic (sublabial) transsphenoidal pituitary surgery. Endonasal transsphenoidal endoscopic surgery is emerging as a novel, less invasive treatment for pituitary adenomas with lower postoperative complications and morbidity. The safety of endoscopic surgery has been extensively reviewed in adult patients and is now considered best practice for...

Background: Glucagon (GST) is used as an alternative to insulin (ITT) to diagnose GH deficiency (GHD) and adrenal insufficiency (ACTHd). However the peak cortisol response to diagnose adrenal insufficiency varies (550, and 500 nmol/l), has been extrapolated from adults undergoing intraoperative stress and not fully validated.Aim: To determine the peak cortisol ‘cut off’ level which most accurately predicts clinically significant adrenal insuffi...

Introduction: The management of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency is challenging and clinical practice is known to vary. Clinical guidelines were published in the Consensus Statement in 2002 encompassing evidence for best practice.Aims: To compare the management of paediatric patients with severe 21-OH deficiency in South East and West of Scotland (SE and WoS) with consensus guidelines. To determine the nature ...

Introduction: Adrenocortical carcioma, is an aggressive cancer originating in the cortex of the adrenal gland. Adrenocortical carcinoma is a rare tumor, in United State <25 new cases of adrenocortical tumours (benign and malignant) are diagnosed annually (0.1–0.4 cases/million per year) and malignant adrenal tumours comprise ~1% of all carcinomas diagnosed prior to 20 years of age. Adrenocortical carcinoma has a bimodal distribution by age, with cases clustering in ch...

Introduction: 11β-Hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) occurring in 1 in 100 000 births. The mainstay of management is with glucocorticoids to prevent virilisation and optimise growth. In this case, a novel approach was applied to improve linear growth in a patient who presented late with an advanced bone age.Case report: The patient was born in Turkey to consanguineous parents. Aged 3 years, ...

Introduction: There is a known association between delayed puberty in autoimmune Addison’s disease in presence of polyglandular involvement, but constitutional delay still needs to be considered in these cases.Case: We report a 14-year-old boy who presented with a 4 month history of dizziness, fainting episodes and weight loss at the age of 12 years. He was stabilised on a reasonable dose of hydrocortisone and fludrocortisone after a diagnosis of Ad...

Background: Acid-labile subunit (ALS) deficiency inhibits ternary complex formation leading to primary IGF1 deficiency and short stature. Potential metabolic consequences such as diabetes and low bone mass are not well studied.Objective: This study measured insulin sensitivity, lipid profile, bone density and structure in members of 4 affected families and explore possible gene-dose effects.Methods: Four patients (7–21 years) ...

Introduction: The vitamin D (25OHD) status of a population will reflect genetic and environmental factors. We evaluated all 25OHD assays undertaken at a regional centre in an area at high risk of vitamin D deficiency, over a 10 year period on the basis that this would provide insight into annual, seasonal and age based trends in 25OHD status. We planned to correlate vitamin D measurement with trends in vitamin D prescribing.Methods: Data (66 694 samples)...

Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...

Idiopathic infantile hypercalcemia (IIH) (OMIM 143880) is characterised by severe hypercalcemia, failure to thrive, vomiting, dehydration and nephrocalcinosis. Laboratory evaluation of infants affected with this condition reveals hypercalcemia, suppressed parathyroid hormone and hypercalciuria. Recently loss of function mutations in CYP24A1 gene have been found to cause IIH (New England Journal of Medicine 2011 365 410–21). Short-term treatment for th...

Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically reported in consanguineous families. Milder forms, with less significant hypophosphataemia, present with hypercalciuria and nephrolithiasis, without bone disease and may be underdiagnosed. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes a sodium-phosphate transporter in the proximal renal tubules. Our patient, a 13-year-old Caucasian gir...

Subcutaneous fat necrosis (ScFN) of the newborn is an uncommon self-limiting panniculitis, often associated with a complicated delivery. Hypercalcaemia can be a major complication, usually occurring within the first 6 months of birth and this may result in irritability, constipation, nephrocalcinosis, seizures and sometimes even death. Treatment options are variable with a number of different regimens including intravenous fluids, loop diuretics, prednisolone and bisphosphonat...

Introduction: Vitamin D deficiency is increasingly recognised as an important cause of neonatal hypocalcaemia. In this case report, we discuss the impact of co-existing vitamin D deficiency on the diagnostic process in a preterm infant who had refractory hypocalcaemia due to hypoparathyroidism resulting from a homozygous GCM2 mutation.Case report: A 33-week gestation male infant of Pakistani extraction was found to be profoundly hypocalcaemic with seizur...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Introduction: Camurati-Engelmann disease (CED) is a rare progressive bone dysplasia with ~200 cases documented worldwide. The hallmark is gross thickening of the diaphysis of long bones, usually presenting in childhood, with bilateral, symmetrical pain in the extremities. Endocrine complications include vitamin D deficiency, osteoporosis, delayed puberty, tall stature, hypogonadotrophic hypogonadism and gonadal dysfunction. The disease has been ascribed to activating mutations...

Introduction: Increasing evidence is emerging that demonstrates the increased prothrombotic risk associated with DKA.1 We present the case of a child who developed multiple complications which we believe can be explained by his hypercoaguable state.Case history: A 14-month-old male was admitted in DKA at first diabetic presentation, complicated by cardiovascular shock. Initial blood tests showed blood glucose 80 mmol/l, blood ketones 5.9 mmol/...

Objectives: We aimed to develop a registry for the rare genetic diseases Wolfram (WS), Alstrom (AS), Bardet Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data. The purpose is to establish the natural history of these diseases; to assess clinical management; to characterize cohorts for future clinical trials; and to establish genotype phenotype relations. This abstract describes the first 50 patients recruited.<p class="abstex...

Background: An effective care pathway is required for the smooth ‘transition’ (rather than swift ‘transfer’ of care) from the paediatric to adult diabetes clinic. Engaging the patient in the service, with a clear, smooth and robust pathway, is required to bridge this very challenging period. The aim of our study was to assess the effectiveness of a staged transition process based on a shared-care protocol that has been existent over the last 3 years at our ...

Background: Diabetic ketoacidosis (DKA) remains the leading cause of morbidity and mortality in children with type 1 diabetes. In the past few years, both the International Society for Paediatric and Adolescent Diabetes (ISPAD) and the British Society for Paediatric Endocrinology and Diabetes (BSPED) have recommended key changes in the management of DKA. These changes incorporate new evidence to reduce the incidence of cerebral oedema and the increased use of insulin pumps.</p...

Introduction: Mutations in SLC29A3 lead to PHID and H syndromes, familial Rosai Dorfman Disease and Histiocytosis-lymphadenopathy plus syndrome. PHID syndrome is associated with short stature, pubertal delay, endocrine and exocrine pancreatic insufficiency. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes and cardiomyopathy.Case report: A 12-year-old girl with PHID syndrome presented with shortness ...

Introduction: The number of children with type 1 diabetes continues to rise by 3% per year. As part of an audit of in-patient care of children up to 16 years with diabetes, the guidelines for management of the newly diagnosed children from participating hospitals were reviewed and compared to national and international recommendations.Methodology: Across the Oxford, Wessex and South West Paediatric Diabetes Networks 21 out of the 27 requested services su...

Audit data were prospectively collected on establishing a multidisciplinary children’s diabetes service in a small district general hospital serving a mixed urban and rural community in 1989. Only two team members DSN and paediatrician were unchanged until 2009.The number of children diagnosed with diabetes more than doubled, with overall incidence rates of ~27/100 000. From 1998 until 2008 all newly diagnosed children were managed as outpatients un...

Background: Children presenting with diabetic keto-acidosis (DKA) as an initial presentation of diabetes mellitus are often unwell, with associated increases in mortality and morbidity. While electrolyte imbalances such as hypokalaemia and hypophosphataemia are well recognised, the incidence of hypercalcaemia is less well documented.Case: A previously healthy 12-year-old boy presented to hospital with a history suggestive of new onset diabetes. Initial b...

Introduction: The management of diabetes during surgery in children is not evidence-based although the ISPAD has produced consensus guidelines.Aims: To explore the variability of guidelines in three regional diabetes networks in South West and South Central England and to compare them to the current ISPAD 2009 Guidelines.Methods: Within an audit of in-patient care, a copy of the surgical guidelines was requested from 27 paediatric ...

Introduction: Children and young people with type 1 diabetes are usually managed by multidisciplinary teams (MDT) based in secondary care. Many of them have co-morbidities, which may or may not be associated with diabetes. Presence of co-morbidity increases health care needs and costs. Such co-morbidities in adult patients with diabetes are primarily managed by the general practitioners (GP) (Struijs, Baan et al.; 2006). Our aim was to analyse the prevalence of co-morbi...

Prevention, diagnosing, and adequate management of cerebral oedema in diabetic ketoacidosis are of vital importance. This can be very challenging in infants and toddlers as symptoms can be very subtle or difficult to interpret. Young age, new diagnosis of diabetes, and severe acidosis at presentation has been reported as risk factors for the development of cerebral oedema. We report our experience in managing one infant and two toddlers newly diagnosed diabetics who were refer...

Background: The need for improved glycaemic control in children with type 1 diabetes in Scotland is well recognised; DIABAUD 3 identified that only 9.7% achieved the national HbA1c target.Aim: To evaluate whether a change from three times daily injection regimen to a basal bolus regimen with carbohydrate counting at diagnosis will result in an improvement in immediate and longer term glycaemic control.Method: We included children &...

Physiology shows vitamin D has a role in the immune system and glucose metabolism. Experimental and epidemiological studies demonstrate associations between type 1 diabetes mellitus (T1DM) and vitamin D levels. Vitamin D deficiency appears undesirable in T1DM, although its significance in aetiology and progression is controversial.We reviewed the outcome of implementing vitamin D screening at T1DM diagnosis. Methods were review of diabetes register, hosp...

Introduction: Guidance on the management of diabetic ketoacidosis (DKA) has recently been updated in an effort to reduce the risk of complications, in particular, cerebral oedema. However, differences in recommendations for children and adults persist making the care of teenagers with DKA confusing and potentially hazardous.Aims: To compare the management of DKA in teenage patients in paediatric and adult care settings in the context of the latest nation...

Introduction: Abnormalities in glucose tolerance and diabetes have been described in various types of bone marrow failure including Fanconi’s and Diamond-Blackfan anaemia. It is also recognised that transmission of type 1 diabetes can occur following bone marrow transplantation (BMT).Case report: We report a 9-year-old girl who presented with a three week history of lethargy and petechial spots. She was pancytopenic and subsequent investigations dia...

Introduction: Testicular tumours are very rare in children and usually present as painless enlargement of the testis. Germ cell tumours account for the majority of testicular tumours in young people and embryonal carcinomas are a common component of germ cell tumours.Case report: A 9.8 year old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt (Height +3 SDS and bone age advanced to 14.8 years) an...

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

Introduction: This study explores the role of different fat depots in the aetiology of abnormal glucose homeostasis in childhood ALL survivors treated with BMT and TBI using detailed body composition assessments with MRI and DEXA scanning.Method: 52 (16–26 year old) childhood ALL survivors treated with (group 1, n=21, M=11) and without (group 2, n=31, M=13) BMT and TBI and 20 obese subjects (group 3, M=10) were inv...

Background: Children with brain tumours are known to be at risk of late neuroendocrinopathies due to anatomical and treatment disturbances to central pituitary function.Aims: To provide a descriptive analysis of a cohort of children with such tumours, referred to the late-effects neuroendocrine service at UCLH. It aims to describe the types of tumour, treatment and current endocrine morbidity of this cohort.Methods: Cases were iden...

Brain tumours are the most common solid tumour in children, affecting 400 children in the UK each year. The aggressive treatment required for cure, may have serious consequences, of which endocrine late effects are the most prevalent.This aim of this audit is to ascertain the frequency and nature of endocrine late effects; in a cohort of 30 survivors, diagnosed over a fourteen year period. Data was collected on tumour site, histology, treatments used and...

Objectives: To determine long-term functional outcome following traumatic brain injury (TBI) in childhood.Patients: Longitudinal study of 49 participants with TBI (21 mild, 28 moderate/severe TBI) and 16 healthy controls matched for age, gender and socioeconomic status. Age at TBI (median (range)) 11.8 (1–16) years; 17 were prepubertal, 16 peripubertal, 16 postpubertal. Age at study 19.7 (10–26) years, time post TBI 8.6 (5.8–10.8) years. A...

Cushing’s syndrome due to ectopic ACTH production is extremely rare in childhood. Ectopic ACTH secretion is most often due to tumours in the chest, but rare cases of carcinoid tumours, neuroblastoma, phaeochromocytoma and pancreatic and ovarian carcinoma have been reported. We describe a 2 year old girl with ectopic Cushing’s syndrome due to a malignant epithelial abdominal tumour producing POMC. She presented with rapid weight gain, hypertension, body odour, letharg...

Introduction: As in most sub-Saharan Africa, hypertension and its complications are increasingly common in Nigeria, where malaria is hyper-endemic. We established a birth cohort in Ibadan to assess the impact of maternal malaria on blood pressure (BP) in Nigerian infants over their first year.Methods: Healthy pregnant women with singleton pregnancies were followed to delivery. They had regular blood films for malaria parasites through to delivery. Growth...

Introduction: The chondrodysplasias are a heterogeneous group of genetic conditions affecting growth and form of the skeleton. As genetic knowledge has improved and genetic testing has become increasingly available, we hypothesize that over the past 10 years there has been an increase in the number of children where a genetic diagnosis is reached.Aims: To ascertain if there had been an increase in the number of chondrodysplasias confirmed by genetic test...

Introduction: A standard oral glucose tolerance test (OGTT) measures samples at 0, 30, 60, 90, 120 min. Insulin and c-peptide are taken along with blood glucose (BG). Whether samples between baseline and 120 min provide any additional value in detecting children at high risk in clinical practice is not well documented. This audit is looking at the value of doing insulin and c-peptide within 2 h post glucose ingestion in otherwise healthy children seen in Oxford Children’s...

Background: Small for gestational age (SGA) and short stature at birth can be defined as birth weight (BW) and birth length (BL) ≤−2 S.D.. Affected neonates can be classified as: i) SGA, ii) Short, iii) SGA + Short. Catch-up growth occurs by age 6 months in 90–95% of Short and SGA + Short infants. A minority remain short after age 2–4 years when the lack of data on BL and parental height (PH) renders assessment difficult.<p class="abste...

Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS).Aims: To estimate its incidence in our TS population; identify risk factors; highlight distinctive operative findings; and suggest strategies for earlier detection.Methods: Retrospective casenote review for patients attending a TS clinic to identify those with cholesteatoma; each age-matched with three unaffect...

Introduction: Pancreatectomy may be necessary to treat hypoglycaemia due to congenital hyperinsulinism (CHI) following failure of medical management. Post-operative complications including infection and persistent hypoglycaemia have been reported after pancreatectomy, but factors predictive of these have not been recognised.Aims: To investigate if early factors or the time to surgery predict risk of CHI surgical complications and hypoglycaemia in the 6 m...

Background: Newborn infants have multiple risk factors for developing hypoglycaemia of which, hyperinsulinism is an important cause of both transient and persistent hyperinsulinaemic hypoglycaemia (HH). It can present in newborns infants at term, preterm and newborns with intrauterine growth retardation (IUGR). There have been no previous reports of HH occurring in twins and triplets.Aims and objectives: We report the occurrence of HH in 4 sets of twins ...

Introduction: The molecular research on rare diseases is limited by the availability of tissue samples that yield good quality RNA. Extraction of RNA from human pancreatic tissues are challenging due the high amount of ribonucleases.Aim: To compare the quality of RNA from fresh frozen (FF) and formalin fixed paraffin embedded (FFPE) human pancreatic samples of patients with congenital hyperinsulinism (CHI).Methods: Tissue samples w...

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by hyperinsulinaemic hypoglycaemia (HH), overgrowth, tumour predisposition and congenital malformations. Commonly, BWS is caused by epigenetic or genomic alterations, which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. Rarely (~1%), paternally inherited duplications of 11p15 can result in BWS phenotype. We describe the first case of BWS associated with a paternally inherited dup...

Introduction: Measures commonly used to assess adiposity are often considered to reflect visceral adiposity and hence used as indicators of cardiovascular risk. This study compares common clinical adiposity measures with abdominal MRI, a direct measure of visceral fat, to assess if this relationship applies in patients with abnormal body composition.Method: Fifty childhood leukaemia survivors (16–26 years) treated with bone marrow transplantation/to...

Introduction: Even though fatigue is a common complaint in GH deficiency (GHD), its pathophysiology remains poorly understood. Fatigue can reflect central or peripheral disease processes. 31-Phosphorus magnetic resonance spectroscopy (31P-MRS) is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. Specifically, mitochondrial oxidative phosphorylation and proton efflux can be measured dynamically and in ‘real time’. The ai...

Introduction: The adipokine adiponectin promotes insulin sensitivity and its circulating levels are inversely related to adiposity in adults and older children. In small for gestational age (SGA) infants adiponectin levels decline rapidly with age in early life and have been inversely associated with subsequent weight gain. There are few data in early infancy, especially in non-SGA infants.We therefore investigated the association between adiponectin lev...

Background: A recent RCT of rhGH in IBD over 6 months showed that improvement in linear growth was associated with a reduction in insulin sensitivity.Objectives: To investigate the effects of prolonged rhGH on growth and glucose homeostasis in children with IBD.Patients and methods: Eleven children (10CD/1UC) (9 m) with a median age of 14.7 years (range, 8.9, 16.2) who received rhGH (0.067 mg/kg per day) as part a 6-month RCT were ...

Background and aims: Estimating puberty using Tanner stages is usually done unconfidently by general paediatricians. Self-assessment methods are not reliable. As assessment of growth on the new UK growth charts necessitates establishing pubertal status, we have designed and evaluated a simpler non-invasive approach.Methods: The new system has three Phases– Pre-Puberty (Tanner stage 1), In-Puberty (stages 2/3) and Completing-Puberty (stages 4/5)....

Background and aims: Non-adherence to daily subcutaneous GH (r-HGH) administration may account for discrepancies between dose prescription, growth response and serum IGF1 levels but is difficult to determine. The electronic r-HGH auto-injector Easypod device has the only inbuilt retrievable dosing record, with which we aimed to assess adherence.Method: Over a 4 month period, we retrospectively retrieved dose history data in 25 clinic patients aged 10&#15...

Background: GH therapy in adolescents with childhood onset GH deficiency (CO-GHD) is often necessary to prevent adult GHD syndrome and requires a re-evaluation of the GH axis on attainment of final height. Not all individuals with CO-GHD remain GH deficient and re-evaluation is required to confirm or refute adult GHD.Aim: Review the care received by young adults diagnosed with CO-GHD.Design: Retrospective review of young adults wit...

Background: Craniopharyngiomas are rare tumours with an annual incidence of 0.5–2/100 000. Though benign they still represent a management challenge because of morbidity that includes pituitary hormone deficiency, visual impairment, adipsia and morbid obesity. We retrospectively assessed the outcomes of craniopharyngioma patients in our centre over a 10-year period.Methods: All children (n=16) diagnosed with craniopharyngioma and treated in t...

GH stimulates the growth of skeletal muscle and connective tissue and increases the rate of protein synthesis. Somatotropin (artificial GH) has been commercially available since 1985 and is most commonly used for the treatment of Isolated GH Deficiency, idiopathic short stature, Turner syndrome, Prader–Willi syndrome, chronic renal insufficiency, and ‘small for gestational age’. GH deficiency has a growing prevalence, affecting 20/million children in the UK. Our...

Two weeks after fracturing his humerus a 14-year-old male presented with ongoing epigastric pain and vomiting. He was persistently tachycardic but normotensive. Treatment with intravenous fluids and ranitidine, for a presumed gastritis, was commenced.Initial blood tests revealed a mildly raised urea and creatinine, normal inflammatory markers and full blood count. Further investigation showed a moderate hypercalcaemia with an albumin adjusted calcium of ...

Prader-Willi syndrome (PWS) is a rare genetic condition characterised by hypotonia, early feeding difficulties, hyperphagic obesity, hypogonadism and short stature; with an incidence between 1/15 000 and 1/25 000 live births in the UK. It is caused by failed expression of paternally inherited genes in the imprinting region of chromosome 15q11.2–q13. Recombinant human GH (rhGH) is the main pharmacological treatment used in PWS.Aims: We aimed to revie...

Introduction: De Morsier described an association between optic nerve hypoplasia and an absent septum pellucidum in 1956, termed septo-optic dysplasia. SOD is a common cause of multiple pituitary hormone deficiency in children. Clinical features can evolve. Genetic mutations in regulators of pituitary development have been suggested.Aims: To determine associated endocrinopathies, ophthalmological and radiological findings in an Irish paediatric cohort of...

Although pituitary abnormalities are the most commonly reported endocrine feature in septo-optic dysplasia, other endocrine abnormalities have not been described so far. We present a case of septo-optic dysplasia (SOD) and pituitary dysfunction, complicated by X-linked adrenoleucodystrophy (X-ALD) and primary adrenal insufficiency.A 4-year-old boy was referred with hypoglycaemic episodes and seizures during intercurrent illnesses. He had a history of pol...

Background: Puberty is understood to be commonly affected in adolescents with Crohn’s disease (CD) and ulcerative colitis (UC).Objective: To determine the impact of IBD on pubertal status and pubertal growth.Methods: Single centre prospective study over 12 months of 45 adolescents (boys, 23) with CD and 18 (boys, 12) with UC with a median age of 13.4 years (10, 16.6). Assessment included details of disease, anthropometry and b...

Introduction: Drug-based therapy is usually the initial treatment for thyrotoxicosis in children, but there is some debate about treatment duration. Our objective was to assess the effect of long-term Carbimazole therapy by block and replacement regime on thyrotoxicosis remission in children.Methods: 15 children with thyrotoxicosis seen in endocrine clinic between January 2006 and January 2010 were included in the audit. Data was collected retrospectivel...

Neonatal thyrotoxicosis (NT) is a rare condition caused by the transplacental passage of maternal thyroid-stimulating antibodies from mothers with active Graves’ disease or a past history of the condition. We suspected that there were wide differences in the way that babies at risk of NT were managed in our locality and undertook a survey to establish the local approach to this clinical problem.Method: The lead clinician who was considered most like...

Introduction: Symptoms of hypothyroidism in childhood include tiredness, poor growth, weight gain, dry skin and constipation. Whilst muscular manifestations including myalgia, muscle weakness, aches and cramps, stiffness and delayed tendon jerk relaxation are common, rhabdomyolysis has also rarely been reported.Case presentation: An 11-year-old female presented to her GP with a history of tiredness and poor growth. Initial blood tests performed by the GP...

Thyroid hormone resistance is an inherited disorder with an incidence of about 1 in 50 000 live births. It is characterised by reduced response to the hormone at tissue level. Though many cases have been reported and there is growing awareness of the rare condition, there are reports of many patients being wrongly diagnosed as Graves disease and therefore undergoing various inappropriate treatments. We report the case of a 7-year-old boy who was referred to our service with ab...

Case report: A 7-year-old girl presented with short stature following removal to the UK from China, where she had been diagnosed with GH deficiency on blood testing, for which GH treatment had been recommended. She had reportedly not grown well over the previous 2 years, and though the oldest in her class, she was the smallest. She had a poor appetite but otherwise was well. She had no constipation, normal activity levels, and was doing well in school. She was born at term wei...