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Pediatric Endocrinology Sarah Lawrence Division of Endocrinology CHEO Outline Growth/short stature Puberty – precocious and delayed Disorders of Sex Development Diabetes Thyroid Short Stature Predicted Height 3 boys age 10 128 cm BA 8 BA 10 BA 12 Which will be taller as an adult? 177 cm 168 cm 155 cm Midparental [target] height: males Father Target Height Mother Midparental [target] height: females Father Target Height Mother Endocrinopathy Based on this growth chart, what is the MOST likely cause of this boy’s growth failure? A. Primary hypothyroidism B. Craniopharyngioma C. Down Syndrome D. Inflammatory Bowel disease E. Scoliosis Chronic Disease Based on this growth chart, what is the MOST likely cause of this boy’s growth failure? A. Primary hypothyroidism B. Craniopharyngioma C. Down Syndrome D. Inflammatory Bowel disease E. Scoliosis Approach to Short Stature Short Stature Growth velocity Target Height Normal Variant Familial Short Stature Pathologic Constitutional Delay Proportionate Prenatal Idiopathic Short Stature IUGR Dysmorphic syndromes Chromosomal disorders Disproportionate Postnatal Medications Chronic disease Endocrine Precocious Puberty Presence of secondary sexual development by age: 8 in a girl 9 in a boy Puberty Sequence: Girls Puberty Sequence: Males Approach to Precocious Puberty Precocious Puberty Growth Velocity Bone Age Normal Increased Normal variant Pathological Estrogen Premature Thelarche Androgens Premature Adrenarche Central Peripheral Androgens Estrogen Question A 6 year old girl presents with pubic hair, axillary hair and odour and mild acne. Her growth is as shown. What is the MOST likely cause of her precocious puberty? A. Congenital adrenal hyperplasia B. Benign premature thelarche C. Benign premature adrenarche D. Adrenal tumour E. Central precocious puberty Question A 6.5 year old girl presents with a 10 month history of breasts and pubic hair. What is the MOST likely cause? A. Benign premature thelarche B. Congenital adrenal hyperplasia C. Craniopharyngioma D. Ovarian tumour E. Idiopathic central precocious puberty Approach to Precocious Puberty: Females Bone age, GV Normal Increased Normal Variant Pathological Estrogen Androgens Central Premature Thelarche Premature Adrenarche Estrogen +/- androgens Peripheral Estrogen Androgens Ovary Adrenal Other Ovary Adrenal Other CAH 29/01/92 Question A 5 year old boy presents with pubic hair, growth acceleration. He has Tanner 4 pubic hair and genitalia with 2 ml testes. What is the MOST likely diagnosis? Idiopathic central puberty B. Congenital adrenal hyperplasia C. Hypothalamic tumour D. Testicular tumour A. x Approach to Precocious Puberty: Males Bone age, GV Normal Increased Normal Variant Pathological Androgens Central Premature Adrenarche Testes > 4ml Peripheral Androgens Estrogen Testes Adrenal Other Testes Adrenal Other Delayed Puberty Absence of secondary sexual development by age: 13 in a girl 14 in a boy Approach to Delayed Puberty Delayed Puberty LH, FSH Low High Central Peripheral Constitutional Delay of Growth and Puberty Hypothalamic or Pituitary Cause Gonadal Failure Delayed Puberty: Investigations Growth records Bone age LH, FSH Sex hormone levels - not needed Other hormones as clinically indicated (T4, TSH, GH, Prolactin, Cortisol) Delayed Puberty: Treatment Hyper / Hypogonadotropic Hypogonadism Boys: Testosterone intramuscular injection, transdermal patch/gel or orally, gradually increasing to adult doses Girls: Start with low dose estrogen, increasing over 1-2 years, then begin cycling with estrogen and progesterone Ambiguous Genitalia (Disorders of Sex Development) 46 XY 46 XY 46 XX 46 XY Development of Internal and External Genitalia http://www.aboutkidshealth.ca/En/Ho wTheBodyWorks/SexDevelopmentA nOverview/Pages/default.aspx Approach to Disorders of Sex Development Gonads palpable No Unilateral Probable virilized female 46 XX DSD Maternal Fetal Likely CAH Hypospadias Ovotesticular DSD Mixed Gonadal Dysgenesis Bilateral Undervirilized male 46 XY DSD Hormonal Hypospadias Testosterone Synthesis Defect 5-a-reductase deficiency Genetic syndrome Androgen Insensitivity Syndrome (AIS) Type 1 Diabetes Epidemiology of Type 1 Prevalence 0.4% of individuals < 18 years Increased risk to family members Sibling Father with diabetes Mother with diabetes Identical twin 5% 6-8% 2-3% 30-50% Diagnostic Criteria FBG > 7.0 mmol/L OR Casual BG > 11.1 with symptoms OR 2 hour BG in OGTT of > 11.1 Pediatrics: do not need confirmatory sample on another day in the presence of unequivocal hyperglycemia and symptoms. BG Targets Age (years) Premeal target (mmol/L) HbA1c Target (%) <5 6-12 < 8.5% 6-12 4-10 < 8.0% >12 4-7 < 7.0% DKA: How common is it? At diagnosis of diabetes Established diabetes 15-67% present with DKA 1-10% of patients/year Cerebral edema 0.4-1% of episodes of DKA 25% mortality, up to 35% with severe neurologic deficits Cerebral Edema in DKA Who is at risk? Increased risk in new onset DM, more dehydrated and acidotic patients ?treatment factors – rapid infusion of hypoosmolar fluids, use of bicarbonate Treatment – early intervention is key Raise HOB, + intubate, reduce fluids hypertonic saline, mannitol DKA: What you need to remember The best way to prevent CE-DKA is to prevent DKA How do you prevent cerebral edema once child presents in DKA? By remembering a few guiding principles: The younger the child, the greater the risk No insulin bolus No fluid bolus, unless in shock (max 10 cc/kg over 20-30 minutes) Question: An 8 yo girl is diagnosed with Type 1 diabetes. At what age should you begin screening for: a) Microalbuminuria b) Retinopathy c) Hypothyroidism d) Hyperlipidemia e) Celiac disease Complication Screening Complication Who When How Nephropathy 12 yo and DM>5 years Annual Albumin/creatinine ratio Retinopathy >15 yo and DM >5 years Annual Opthalmoscopy/ fundus photography Neuropathy Post pubertal, poor control, DM>5 years Annual Symptoms, Sensory exam Dyslipidemia All + targeted Age 12, 17 Fasting lipid profile Hypertension All Twice annual BP measurement Thyroid All Dx + q1-2y TSH, TAB Celiac Targeted Symptoms TTG, IgA Type 2 Diabetes in Children and Youth Presentation of T1DM vs T2DM Type 1 Type 2 Up to ¼ overweight 85% overweight Short Course Indolent course 15-40% DKA 33% ketonuria 5-25% DKA FHx T1DM in 5-10% FHx T2DM 74-100% Predominantly white Minority youth Acanthosis Nigricans For Children, BMI Changes with Age BMI BMI Boys: 2 to 20 years BMI Example: 95th Percentile Tracking BMI Age BMI 2 yrs 4 yrs 9 yrs 13 yrs 19.3 17.8 21.0 25.1 Genetic and Environmental Risk factors for T2DM Ethnicity Female gender Family history T2DM Intrauterine factors Maternal history of gestational diabetes Large for gestational age (>4 kg) Small for gestational age (<2.5 kg) Obesity Sedentary behaviour Question A 13 year old boy with a BMI of 30, acanthosis nigricans, and a family history of Type 2 diabetes presents with a random glucose of 15 mmol/L, negative ketones. A What is the medication of first choice? B What is the target A1c? Treatment of T2DM in Youth Diabetes education for the family Setting glycemic targets Lifestyle modification HbA1c < 7.0% <10% achieve glycemic targets Pharmacotherapy Metformin has been shown to have short term efficacy and safety in adolescents Insulin rescue is required in those with severe metabolic decompensation at diagnosis e.g. DKA, A1C ≥9.0%, symptoms of severe hyperglycemia, ketonuria Thyroid Disorders Approach to Goitre Goitre TSH Elevated Hypothyroid Normal Euthyroid Thyroid Antibodies Thyroid Antibodies +ve -ve +ve Chronic lymphocytic Goitrogen, Chronic lymphocytic thyroiditis Dyshormonogenesis thyroiditis -ve Colloid goitre Suppressed Hyperthyroid Thyroid Antibodies Grave's disease, Subacute thyroiditis Toxic nodule Thyroid take home points Thyroid disorders are common in children and adolescents Most commonly present with goitre secondary to autoimmune thyroiditis or a simple colloid goitre TSH and thyroid antibodies is usually all that is required to establish the diagnosis Thyroid take home points Mild elevations of TSH should be verified on repeat testing TSH <10mU/L often normal on repeat Routine monitoring – q6 months while growing, q year once adult height Natural history studies suggest a high rate of spontaneous resolution with autoimmune thyroid disease and thus, repeat testing should be done before committing to lifelong thyroid hormone replacement Thyroid take home points Congenital hypothyroidism detected through newborn screening – they need more intensive monitoring particularly in the 1st 3 years of life Questions?
