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Pediatric Endocrinology

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

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Pediatric Endocrinology

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  1. Pediatric Endocrinology Sarah Lawrence Division of Endocrinology CHEO

  2. Outline • Growth/short stature • Puberty – precocious and delayed • Disorders of Sex Development • Diabetes • Thyroid

  3. Short Stature

  4. 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

  5. Midparental [target] height: males Father Target Height Mother

  6. Midparental [target] height: females Father Target Height Mother

  7. Endocrinopathy Based on this growth chart, what is the MOST likely cause of this boy’s growth failure? • Primary hypothyroidism • Craniopharyngioma • Down Syndrome • Inflammatory Bowel disease • Scoliosis

  8. Chronic Disease Based on this growth chart, what is the MOST likely cause of this boy’s growth failure? • Primary hypothyroidism • Craniopharyngioma • Down Syndrome • Inflammatory Bowel disease • Scoliosis

  9. Approach to Short Stature Short Stature Growth velocity Target Height Normal Variant Pathologic Familial Short Stature Constitutional Delay Proportionate Disproportionate Prenatal Postnatal Idiopathic Short Stature IUGR Medications Dysmorphic syndromes Chronic disease Chromosomal disorders Endocrine

  10. Precocious Puberty Presence of secondary sexual development by age: 8 in a girl 9 in a boy

  11. Puberty Sequence: Girls

  12. Puberty Sequence: Males

  13. Approach to Precocious Puberty Precocious Puberty Growth Velocity Bone Age Normal Increased Normal variant Pathological Estrogen Androgens Central Peripheral Premature Thelarche Premature Adrenarche Androgens Estrogen

  14. 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? • Congenital adrenal hyperplasia • Benign premature thelarche • Benign premature adrenarche • Adrenal tumour • Central precocious puberty

  15. Question A 6.5 year old girl presents with a 10 month history of breasts and pubic hair. What is the MOST likely cause? • Benign premature thelarche • Congenital adrenal hyperplasia • Craniopharyngioma • Ovarian tumour • Idiopathic central precocious puberty

  16. Approach to Precocious Puberty: Females Bone age, GV Normal Increased Normal Variant Pathological Estrogen Androgens Central Peripheral Premature Premature Estrogen Estrogen Androgens Thelarche Adrenarche +/- androgens Ovary Ovary Adrenal Adrenal Other Other

  17. 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 • Congenital adrenal hyperplasia • Hypothalamic tumour • Testicular tumour x

  18. Approach to Precocious Puberty: Males Bone age, GV Normal Increased Normal Variant Pathological Androgens Central Peripheral Premature Testes > 4ml Androgens Estrogen Adrenarche Testes Testes Adrenal Adrenal Other Other

  19. Delayed Puberty Absence of secondary sexual development by age: 13 in a girl 14 in a boy

  20. Approach to Delayed Puberty Delayed Puberty LH, FSH Low High Central Peripheral Constitutional Delay Hypothalamic or Gonadal Failure of Growth and Puberty Pituitary Cause

  21. Delayed Puberty: Investigations • Growth records • Bone age • LH, FSH • Sex hormone levels - not needed • Other hormones as clinically indicated (T4, TSH, GH, Prolactin, Cortisol)

  22. 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

  23. Ambiguous Genitalia (Disorders of Sex Development) 46 XY 46 XX 46 XY 46 XY

  24. Development of Internal and External Genitalia http://www.aboutkidshealth.ca/En/HowTheBodyWorks/SexDevelopmentAnOverview/Pages/default.aspx

  25. Approach to Disorders of Sex Development Gonadspalpable No Unilateral Bilateral Probable virilized female 46 XX DSD Hypospadias Undervirilized male 46 XY DSD Ovotesticular DSD Maternal Fetal Hormonal Hypospadias Mixed Gonadal Likely CAH Testosterone Dysgenesis Synthesis Defect 5-a-reductase deficiency Androgen Insensitivity Syndrome (AIS) Genetic syndrome

  26. Type 1 Diabetes

  27. Epidemiology of Type 1 • Prevalence 0.4% of individuals < 18 years • Increased risk to family members Sibling 5% Father with diabetes 6-8% Mother with diabetes 2-3% Identical twin 30-50%

  28. 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.

  29. BG Targets

  30. DKA: How common is it? • At diagnosis of diabetes • 15-67% present with DKA • Established diabetes • 1-10% of patients/year • Cerebral edema • 0.4-1% of episodes of DKA • 25% mortality, up to 35% with severe neurologic deficits

  31. Cerebral Edema in DKA • Who is at risk? • Increased risk in new onset DM, more dehydrated and acidotic patients • ?treatment factors – rapid infusion of hypo-osmolar fluids, use of bicarbonate • Treatment – early intervention is key • Raise HOB, + intubate, reduce fluids • hypertonic saline, mannitol

  32. 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)

  33. Question: An 8 yo girl is diagnosed with Type 1 diabetes. At what age should you begin screening for: • Microalbuminuria • Retinopathy • Hypothyroidism • Hyperlipidemia • Celiac disease

  34. Complication Screening

  35. Type 2 Diabetes in Children and Youth

  36. Presentation of T1DM vs T2DM

  37. Acanthosis Nigricans

  38. For Children, BMI Changes with Age BMI BMI Boys: 2 to 20 years Example: 95th Percentile Tracking Age BMI 2 yrs 19.3 4 yrs 17.8 9 yrs 21.0 13 yrs 25.1 BMI BMI

  39. 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

  40. 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?

  41. Treatment of T2DM in Youth • Diabetes education for the family • Setting glycemic targets • HbA1c < 7.0% • Lifestyle modification • <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

  42. Thyroid Disorders

  43. Approach to Goitre Goitre TSH Elevated Normal Suppressed Hypothyroid Euthyroid Hyperthyroid Thyroid Antibodies Thyroid Antibodies Thyroid Antibodies Grave's disease, +ve -ve +ve -ve Chronic lymphocytic Goitrogen, Chronic lymphocytic Colloid goitre Subacute thyroiditis Toxic nodule thyroiditis Dyshormonogenesis thyroiditis

  44. 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

  45. 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

  46. Thyroid take home points • Congenital hypothyroidism detected through newborn screening – they need more intensive monitoring particularly in the 1st 3 years of life

  47. Questions?

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