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Paediatric Endocrinology & Diabetes EUPS November 2023 Dr Kathryn CoxOutline • Why Endocrinology and Diabetes • Life as a paediatric diabetes and endocrine consultant • Common conditions • Interesting cases • Developing areas and current research • SummaryWhy endocrinology and diabetes? • Growth and development: the key things that differentiate children from adults! • Huge variety of patients and conditions • Lifelong relationships with patients and families • Opportunity to maximise health and potential • Teamwork • Always learning(Why not?) • Not very many emergencies • No procedures • You don’t spend much time in the hospital overnight • Not for you if you don’t like communicatingMy passions • Supporting children and young people of all ages • Equality and improving life opportunities • Wellbeing at work • KindnessTypical Day? – No such thing! Outpatient diabetes & endocrine D&E Hot weeks Acute general paediatricsOutpatient Weeks • Regular, annual review and new patient diabetes clinics • Young person’s clinic • General endocrine clinics for new and review patients • Specialist and outreach endo clinics • Multi-disciplinary meetings • Planning and chasing up investigations • Service planning and development • …. EmailsHot Weeks • Daily ward rounds (attention to detail) • See and assess urgent referrals • Triage routine referrals • Attend ED for new patients • Advice to outreach centres • Teaching • …EmailsAcute Paediatrics • Daily ward round • Supporting trainees • Phone advice to primary care • …Fewer emails!What does a paediatric endocrinologist see? Hypo/ Hyper Type 1 Diabetes Short / Tall thyroid Stature Autoimmune Complications of Excess Early/ Delayed Type 2 Diabetes Genetic & Weight puberty syndromic causes Adrenal Differences of Bone & Calcium insufficiency/ sex disorders excess development Tumours Hyperinsulinism Diabetes Menstrual Insipidus disordersCommon presentations in diabetes and endocrinologyType 1 Diabetes Mellitus • 4 year old boy attends GP with bedwetting and tiredness • No dysuria • Toilet trained aged 2y, recently started having some “accidents” • Episode of thrush two weeks ago • Mum thinks his clothes look looserGP suspects diabetes – what test? a. Lab glucose b. Lab HbA1c c. Urine dip for glucose d. Fingerprick glucose e. Oral Glucose tolerance testGP suspects diabetes – what test? a. Lab glucose b. Lab HbA1c c. Urine dip for glucose d. Fingerprick glucose e. Oral Glucose tolerance testFingerprick glucose is 12.3mmol/l What should the GP do next? a. Ask family to attend paediatric ED department b. Give 5 units of subcutaneous novorapid insulin c. Write an urgent referral letter to paediatric diabetes d. Arrange a glucose tolerance test e. Re-check blood glucose in the practice the same dayFingerprick glucose is 12.3mmol/l What should the GP do next? a. Ask family to attend paediatric ED department b. Give 5 units of subcutaneous novorapid insulin c. Write an urgent referral letter to paediatric diabetes d. Arrange a glucose tolerance test e. Re-check blood glucose in the practice the same dayThe family bring the child to ED The family give a history consistent with diabetes. The child looks well, is chatting and has a PEWS of 0. What tests should be done? a. Type 1 diabetes genetic risk score, U&Es, blood ketones, blood gas, TFTs, glucose b. Diabetes autoantibodies, U&Es, blood ketones, blood gas, TFTs, glucose c. Diabetes autoantibodies, Type 1 diabetes genetic risk score, U&Es, blood gas, TFTs, glucose d. U&Es, blood ketones, blood gas, TFTs, glucose, Thyroid receptor antibodies e. Diabetes autoantibodies, U&Es, blood ketones, blood gas, LFTs, glucoseThe family bring the child to ED The family give a history consistent with diabetes. The child looks well, is chatting and has a PEWS of 0. What tests should be done? a. Type 1 diabetes genetic risk score, U&Es, blood ketones, blood gas, TFTs, glucose b. Diabetes autoantibodies, U&Es, blood ketones, blood gas, TFTs, glucose c. Diabetes autoantibodies, Type 1 diabetes genetic risk score, U&Es, blood gas, TFTs, glucose d. U&Es, blood ketones, blood gas, TFTs, glucose, Thyroid receptor antibodies e. Diabetes autoantibodies, U&Es, blood ketones, blood gas, LFTs, glucoseNext Steps • Explanation: he has diabetes, will require lifelong treatment with insulin injections • Admitted to hospital, usually for at least 2 nights • Basal bolus insulin is started with Novorapid and Tresiba • The family and child receive intensive inpatient training: • Finger prick testing • Blood glucose targets and how to manage hypoglycaemia • Insulin injections • Carbohydrate counting • Ongoing education and clinic review • Insulin Pump (Continuous subcutaneous insulin infusion)10 day old baby • Telephone call from newborn screening lab to endocrine consultant • TSH result from day 5 screening is 23mU/l • Upper limit of normal is 8mU/l • Consultant arranges for child to attend paediatric outpatients the same day • Explanation to familyClinical assessment • History: • Poor feeding, sleepiness, jaundice, constipation, cold peripheries, hoarse cry • Affected family members • Thyroid treatment in the mother • Examination: • Measure weight, head circumference and length • Measure parental heights • Presence or absence of goitre • Signs of hypothyroidism (coarse facies, hoarse cry, umbilical hernia, dry skin)Investigation & Management • TSH, free T4 and thyroglobulin levels • Consider thyroid imaging • Provide prescription for Levothyroxine • If no signs and screening TSH <50 then can wait for results • Otherwise start levothyroxine before results are available • Weekly then fortnightly review to ensure adequate treatment • Continue treatment until at least 3 years of age to ensure optimal brain developmentShort Stature • 4 year old girl • Family have noticed she is shorter than friends • Born at term, normal birth weight • No feeding difficulties, eats a vegan diet • Eczema treated with emollients • Viral induced wheezeWhich of these do not suggest short stature or slow growth? a. Height below the 0.4th centile b. Height 2 centiles or more below the mid-parental height c. Height 2 centiles below weight centile d. Height below the 2nd centile with height velocity less than the 25th centile e. Crossing more than 1 height centile in 1 year, after age of 2 yearsWhich of these do not suggest short stature or slow growth? a. Height below the 0.4th centile b. Height 2 centiles or more below the mid-parental height c. Height 2 centiles below weight centile d. Height below the 2nd centile with height velocity less than the 25th centile e. Crossing more than 1 height centile in 1 year, after age of 2 yearsWhat are the most appropriate investigations? a. FBC, coeliac screen, IGF-1, TFTs, bone age X-ray b. FBC, coeliac screen, ESR, IGF-1, bone age X-ray c. FBC, IGF-1, TFTs, coeliac screen, DEXA scan d. FBC, coeliac screen, TFTs, c-peptide, bone age X-ray e. FBC, coeliac screen, TFTs, growth hormone, DEXA scanWhat are the most appropriate investigations? a. FBC, coeliac screen, IGF-1, TFTs, bone age X-ray b. FBC, coeliac screen, ESR, IGF-1, bone age X-ray c. FBC, IGF-1, TFTs, coeliac screen, DEXA scan d. FBC, coeliac screen, TFTs, c-peptide, bone age X-ray e. FBC, coeliac screen, TFTs, growth hormone, DEXA scanResults • Normal FBC, LFT, cortisol, TFTs, coeliac screen • Low IGF-1 • Bone age delay • Bone age 2.81 years.19 years • Needs further investigationInsulin tolerance test • Stimulation test of pituitary function • Measure baseline growth hormone and cortisol • Induce hypoglycaemia using injected insulin RISK OF SEIZURES AND DEATH • Frequent monitoring of blood glucose • Re-check growth hormone & cortisol after 20, 30, 60 and 90 minutesResults • Lowest blood glucose 1.0mmol/l • Peak growth hormone 3.27mcg/l • Peak cortisol 812nmol/l • Interpretation • GH peak below 5mcg/L considered abnormal: this is diagnostic of Growth hormone deficiency • GH peak below 3.3mcg/L is diagnostic of severe Growth hormone deficiency • Hypoglycaemia should induce Cortisol peak above 400nmol/lResults • Lowest blood glucose 1.0mmol/l • Peak growth hormone 3.27mcg/l • Peak cortisol 812nmol/l • Interpretation • GH peak below 5mcg/L considered abnormal: this is diagnostic of Growth hormone deficiency • GH peak below 3.3mcg/L is diagnostic of severe Growth hormone deficiency • Hypoglycaemia should induce Cortisol peak above 400nmol/l • Growth Hormone deficiency with normal cortisol productionNext steps • MRI Pituitary – Normal • Started on growth hormone • Nightly sub cut injection – training for family • 6-monthly review & blood monitoringPossible precocious puberty • 7 year old girl with breast development • Mum noticed breast development over a few months • Not noticed growth spurt • Some acne & greasy skin • Family history: mum & older sister had menarche at 13y • Initial results: LH 0.8, FSH 3.8, Oetradiol 68 • Detectable LH level and oestradiol suggest early pubertyReview after 3 monthsCalculate growth velocity • Measuring growth velocity in Age Height cm/year 7.899 years 122.2 cm • Plot on standardised growth 8.181 years 127.2 cm velocity centile chartCalculate growth velocity • Measuring growth velocity in Age Height cm/year 7.899 years 122.2 cm 8.181 years 127.2 cm • Plot on standardised growth velocity centile chart Growth = 127.2- 122.2 = 5cm Time = 8.181-7.899 = 0.282 years Growth velocity = 17.7cm/yFurther investigation • Gonadotrophin releasing hormone test - stimulation test • Measures baseline and stimulated levels of LH & FSH RESULTS LH FSH Baseline 2.1 3.3 Peak 52.9 17.7Interpretation • Rapid Progression through puberty • Treatment with pubertal blocker • GnRH agonist – Decapeptyl injections • Close monitoring of responseUnusual and intriguing casesCase 1 • 10 year old boy referred with central obesity & moon face • Topical steroid treatment for congenital skin condition • Severe pain, unable to walk, having nightmaresSevere Cushing Syndrome • Moon face with plethora • Central obesity • Skin thinning • Striae • Muscle wastingFeatures • Adrenal insufficiency • Hypertension • Osteoporosis with crush fractures • Fatty liver disease • Immobility and weaknessManagement • Multidisciplinary • GI, Renal, Endocrine, Pain, Orthopaedics, Dermatology, Physiotherapy • Stop steroid cream & give appropriate skin treatment • Replacement hydrocortisone and sick day plan • Weaned off antihypertensives • Repeat synacthen – passed after 1 year • Liver now normalisedRecovery • Off all medication • Pain free • Enjoying school • Riding bike and running • Skin dramatically improved • Rapid growthCase 2 • 13 year old boy with chronic pancreatitis • Autistic spectrum disorder • Pancreatic insufficiency • Recurrent acute pancreatitis • Recurrent episodes of pain and poor oral intake • MDT decision for total pancreatectomyPancreatic function Amylase Insulin Lipase Protease GlucagonAutologous Islet Cell Transplant • Pancreas surgically removed • Pancreas processed and centrifuged to extract islet cells • Islet cells reinfused into portal vein • Cell recovery starts immediately but takes time to reach full insulin production • Exogenous insulin required to maintain normoglycaemia during recovery This image shows Allogeneic islet cell transplantNew developments & researchIslet cell transplant • Currently not suitable for most Type 1 as allogeneic transplant requires immunosuppression • Can be used when patients require transplant for another reason • Renal transplant • Lung transplant in Cystic Fibrosis Diabetes • Future Possibilities: • Islets harvested pre-Type 1 allowing later autologous transplant • Lab-grown insulin producing cellsDiabetes screening and immunotherapy • Type 1 screening for 3-13 year olds • Using Verapamil or Monoclonal • Population screening for 4 diabetes antibodies to preserve beta cell autoantibodies function • Option to use in early diabetes or • Initial test on finger prick pre-diagnosis • 1% of those tested will need venous bloods •insulin delay or prevent use of • 2 or more Ab = very high lifetime risk of diabetes • Teplizumab licensed in USA – • Family education delays onset by 3 yearsDiabetes T echnology • Insulin pumps • Continuous Glucose Monitoring • Hybrid closed loop systemsEndocrine developments • Neonatal screening for Congenital adrenal hyperplasia • Targeted therapies based on genetic diagnosis • Burosomab • Setmelanotide • Hormone stimulation treatment • Pubertal induction with GnRH analogues • PTH pumpsSummary • Endocrinology and diabetes is a rewarding and varied career • Multidisciplinary team working, and opportunities to work with teams from across the hospital • Emerging technology and treatments • There is always something new to learn!Thank you for listening! Any Questions? Thank you to all my patients and colleagues who teach me so much! Please get in touch: kathryn.cox@nhslothian.scot.nhs.uk