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Melena Bellin, MD Division of Pediatric Endocrinology.

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Presentation on theme: "Melena Bellin, MD Division of Pediatric Endocrinology."— Presentation transcript:

1 Melena Bellin, MD Division of Pediatric Endocrinology

2 Pituitary/ Hypothalamic Tract Thyroid Adrenal Ovary/ Testes and Puberty Growth and Growth Hormone Water and sodium balance Parathyroid, calcium, and bone Diabetes/ Pancreas

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4 Anterior Pituitary Growth Hormone (GH) Gonadotropins (FSH, LH) Adrenocorticotrophin (ACTH) Thyroid Stimulating Hormone (TSH) Prolactin Posterior Pituitary Antidiuretic Hormone (ADH) Oxytocin

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6 T4/ Free T4 T3 TSH TRH 1 o Hypothyroidism: Low FT4 High TSH

7 Congenital Hypothyroidism Newborns or infants Usually diagnosed on newborn screen Congenital abnormality of the gland Acquired Hypothyroidism Children, adolescents, or adults F>M Autoimmune Central Hypothyroidism Much more rare Congenital or acquired hypothalamic or pituitary defect

8 Most often ectopic or absent gland Rarely– dyshormongenesis, maternal thyroid disease Newborn asymptomatic If untreated- poor growth, cognitive impairment Newborn screen in MN– TSH Treat with synthroid

9 Jaundice Poor feeding Hypotonia Macroglossia (large tongue) Large fontanelles, delayed closure Course facial features Mental retardation Short stature

10 In children and young adults, usually autoimmune HASHIMOTOS DISEASE Presentation: Varies, asymptomatic, goiter, fatigue, poor growth, constipation, eczema

11 Diagnostic Tests: TSH Free T4 Antibodies: thyroglobulin, thyroid peroxidase Treatment: Synthroid (L-thyroxine), usually lifelong. Labs monitored every 6-12 mos.

12 Very rare in young children (<3 years of age) Almost always autoimmune: Early Hashimotos (before gland destruction) Graves disease LABS: TSH FT4 T3

13 Hyperthyroidism Due to antibodies that act like TSH and stimulate the thyroid gland in an uncontrolled fashion-- Thyroid Stimulating Immunoglobulin (TSI) Always goiter Inattention, poor sleep, palpitations, tachycardia, high systolic BP, tremors, hot intolerance, increased appetite, wt loss

14 Complicated Medications: Atenolol/ Propanolol (symptomatic tx) PTU Methimazole Radioablation Thyroidectomy

15 Benign or cancerous Evaluation may include thyroid function tests, ultrasound or radiouptake scan, fine needle aspiration or biopsy More likely to be cancer in children vs adults Cancer management: Radical thyroid dissection High dose radioablation for residual disease Yearly monitoring

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17 Adrenal Cortex: Cortisol: important for cardiovascular response to stress, maintaining BG when fasting Aldosterone: increases blood pressure; salt retention and potassium excretion DHEA-S & Androstenedione: small role in pubic hair development in puberty; in excess states- hirsutism/ virilization in girls Adrenal Medulla: Epinephrine: adrenaline response

18 CRH ACTH Cortisol

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20 Primary Adrenal Insufficiency Problem with the adrenal gland Addisons Disease- usually autoimmune Cortisol +/- Aldosterone deficiency May present with vague symptoms or with shock (low BP, tachycardia) May have electrolyte abnormalities: Hypoglycemia, hyperkalemia, hyponatremia

21 Primary Adrenal Insufficiency: Diagnostic tests: AM cortisol ACTH (cosyntropin) stimulation test Electrolytes and renin for aldosterone def. Treatment: Cortisol replacement: hydrocortisone, prednisone, or decadron Need higher doses for illness- stress dose Florinef if aldosterone deficiency present

22 Central adrenal insufficiency: Problem with the pituitary gland or hypothalamus Also called secondary or tertiary AI By far most common cause: treatment with prednisone or other glucocorticoid for inflammatory condition Diagnosis: AM cortisol or ACTH stimulation (low dose) Treatment: Slowly wean hydrocortisone

23 State of cortisol excess Etiology: Exogenous prednisone Adrenal disease (tumor) Pituitary adenoma (ACTH- secreting) Para-neoplastic (non-pituitary ACTH production) Symptoms: obesity, poor stature growth, bruising, stria

24 Diagnostic Tests: 24 hour urine– free cortisol Dexamethasone suppression test– pt takes decadron, which should shut down endogenous cortisol production Imaging Treatment depends on location of problem (pituitary, adrenal, vs cancer elsewhere)

25 Unregulated aldosterone excess Very rare Results in: Hypertension Low potassium level

26 Usually ovarian androgen overproduction, but need to rule out adrenal androgen Polycystic Ovarian Syndrome is characterized by presence of: Symptoms of androgen excess: hirsutism (excess hair growth), acne Biochemical abnormalities: elevated androgens, abnormal LH:FSH ratio Irregular menses (anovulatory cycles) Polycystic ovaries on ultrasound Is frequently associated with insulin resistance and obesity in 2/3rds of pts

27 Diagnostic Tests: Clinical History Labs: LH, FSH, testosterone, adrenal androgens +/- Ultrasound Treatment: Oral Contraceptives: Yasmin Spironolactone– diuretic with anti-androgen effect Metformin- if associated insulin resistance

28 Life-threatening enzyme block in cortisol synthesis If a defect in aldosterone synthesis also is present, also get salt wasting and hypotension--- Emergency! Androgen pathway not blocked---high ACTH levels stimulate androgen production in utero & after birth Female fetus: virilization (female should not see any androgen) Male fetus: normal genitalia (plenty of testicular androgen present)

29 Most common cause of ambiguous genitalia of the newborn 21-hydroxylase enzyme deficiency in more than 90% of cases Diagnostic test: high 17-OH-progesterone level Treatment: Cortisol +/- Florinef replacement Some female infants undergo surgery for virilized genitalia

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32 Tanner staging= description of breast and pubic hair development Prader beads= used to estimate testicular size (1-3 mL= prepubertal) Adrenarche or Pubarche= onset of pubic hair development Thelarche= onset of breast development Menarche= onset of menses

33 Girls > 13.0 years Boys> 14.0 years Can be due to: Constitutional delay of growth and puberty= normal variant. Family hx of late bloomers Hypothalamic/pituitary problem- often in context of anorexia or systemic illness. Sometimes specific genetic defects (Kallmans syndrome) Ovarian or testicular failure

34 Kallmans Syndrome: Specific genetic defects that result in failure of the GnRH-producing neurons of the hypothalamus Pubertal delay Often also have anosmia (lack sense of smell) Will need lifelong replacement of testosterone (boys) or estrogen (females)

35 Ovarian or Testicular Failure: Radiation Chemotherapy (cytoxan) Autoimmune (rare in children but cause of premature menopause in adult woman) Aneuploidy of sex chromosomes: Turners syndrome (XO) Klinefelters syndrome (XXY)

36 Abnormal X chromosome– XO or mosaic XX/XO female Short stature Streak ovaries- pubertal delay Other physical features Cardiac disease Structural Renal Anomalies Normal cognition (struggle w/math)

37 XXY karyotype Start puberty but then have testicular failure Tall Small testes Lack body hair Elevated FSH, low testosterone level

38 Girls < 8 years of age (controversial) Boys <9 years of age Most often idiopathic central precocious puberty Other causes: tumors, excess adrenal or gonadal steroid production Benign variants: Premature Thelarche: isolated breast development Premature Adrenache: isolated pubic hair

39 Often includes labs: FSH, LH, testosterone, estradiol, DHEA-S Lupron stimulation test: pituitary FSH and LH secretion have classic pubertal or prepubertal patterns Bone age

40 Delayed Puberty, often need T or E 2 : Testosterone- most common is IM injection; other options include patch, gel Estrogen- Premarin or ethinyl estradiol alone initially. Later estrogen + progesterone (OCP) for menstrual cycles Precocious Puberty: Depends on cause of puberty Most common is central puberty, treated with Depot Lupron (IM injection) or Supprelin implant

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44 Endocrinological reasons for poor growth: Growth Hormone Deficiency Hypothyroidism Cushings syndrome (very rare) Most children with poor growth will not have an endocrine problem. Consider also: Occult systemic disease- renal disease, CF Malabsorption- inflammatory bowel, celiac Poor nutrition

45 Its complicated! GH is secreted in pulses from the pituitary gland. A random GH is never helpful for poor growth. First step: Check IGF-1 and IGF-BP3 (growth factors) Second step: GH stimulation testing Clonidine Arginine GH >10 is considered normal

46 First, rule out tumor– Brain MRI Growth Hormone Treatment Daily SQ injections Very expensive– prior authorization from insurance

47 Very Rare Due to pituitary adenoma secreting GH Gigantism in children Acromegaly in adults

48 Largely regulated by ADH from posterior pituitary gland:

49 ADH acts on the collecting ducts in the kidney to allow water absorption lack ADH- loose too much water > High urine output > Dehydration > Hypernatremia too much ADH- absorb too much water > Low urine output > Retain free water hyponatremia

50 Condition in which the body cannot produce or cannot respond to ADH Cannot produce ADH= Central DI Cannot respond to ADH= Nephrogenic DI Presents with: Polyuria (excess urination) Polydipsia (excess thirst) Hypernatremia

51 Causes of central DI include: Tumors Trauma Neurosurgery Treatment= ddAVP (synthetic ADH) Comes as oral tablets, nasal spray, or SQ injection Treatment of nephrogenic DI is more complex

52 Condition of excess ADH Presents as low urine output, concentrated urine, and hyponatermia Often transient, in response to: Neurosurgery Meningitis Pneumonia or other pulmonary infection

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54 Parathyroid Hormone (PTH): Secreted by parathyroid gland in response to low calcium levels Retains calcium at the level of the kidney, activates vitamin D, and has some direct effect on bone Vitamin D: Necessary to absorb calcium normally from the gut Bone: Where most of our bodys calcium is stored; in the absence of dietary calcium intake, we leach calcium from bone to maintain blood levels

55 Tumor or hyperplasia of parathyroid glands Excess secretion of PTH Characteristic findings: Hypercalcemia Low phosphorus Bone pain Risk of kidney stones and kidney damage Treatment: increase fluid intake, often need surgery to remove abnormal parathyroid tissue

56 Congenital underdevelopment of parathyroid glands Acquired deficiency– autoimmune destruction Characteristic features: Low calcium- may present as tetany or seizure High phosphorus Treatment: Calcium and calcitriol (vitamin D) supplementation

57 Congenital hypoplasia of parathyroid glands Associated with characteristic facial features, cardiac defects, thymic aplasia

58 In very young children, causes rickets. Rickets= bone deformities from calcium/ vitamin D deficiency. Most often occurs in purely breastfed infants in northern latitudes Reason for recommending vitamin D supplement in breast feeding infants Treat with high dose vitamin D

59 PANCREAS, ISLETS, AND BETA-CELLS:

60 Type 1 Diabetes Autoimmune destruction of beta-cells with eventual complete inability to secrete insulin Type 2 Diabetes Insulin resistance (need more insulin) Plus insulin insufficiency

61 Casual (Random) Glucose Test > 200 mg/dL + symptoms Polyuria, polydipsia,hyperphagia, weight loss Fasting blood glucose > 126 mg/dL* < 100 mg/dl: Normal mg/dl: Impaired Fasting Glucose 2 Hour OGTT glucose > 200 mg/dL* < 140 mg/dl: Normal mg/dl: Impaired Glucose Tolerance *In absence of unequivocal hyperglycemia, requires confirmation on separate day*

62 1552 BC earliest written record of DM (Egyptian physician) 1st Breakthrough in understanding: 1889 – The problem is within the pancreas Cure for diabetes (type 1) – insulin: 1922 insulin

63 Not much change for the next 50 years! Islet Cell Antibodies Genetic Studies: HLA Association Pathology Studies: Insulitis Insulin Autoantibodies GAD65 antibodies, IA-2 Type 1 diabetes is immune mediated Human Insulin Home Glucose Monitoring DCCT Insulin pumps Rapid-acting Insulin Basal Insulin Marked changes in Therapy

64 ISLET IMMUNE CELLS Exocrine Pancreas

65 Natural History of Type 1 Diabetes CELLULAR (T CELL) AUTOIMMUNITY LOSS OF FPIR (IVGTT) GLUCOSE INTOLERANCE (OGTT) HUMORAL AUTOANTIBODIES (ICA, IAA, Anti-GAD 65, IA 2 Ab, etc.) TIME BETA CELL MASS DIABETES PRE- DIABETES GENETIC PREDISPOSITION INSULITIS BETA CELL INJURY GENETICALLY AT RISK UNKNOWN TRIGGER CLINICAL ONSET

66 Caglecartoons.com Acanthosis Nigricans

67 Honeymoon Period: refers to period of time early after diagnosis of type 1 diabetes mellitus when blood sugars are easier to control. Basal or Background Insulin Bolus Insulin Glucagon: Used for hypoglycemic emergency to raise blood sugar

68 Common Brands: - One Touch (Ultra, Link, Mini) - Bayer (Contour) - Accucheck (Aviva) - Freestyle (Lite)

69 Insulin Types: Lantus (glargine) Levimir (detrimir) Novolog (aspart) Humalog (lispro) Apidra (glulisine) NPH (N) Regular (R)

70 Easy to carry and use Dial up dose in 0.5 or 1 unit increments

71 4:0016:0020:0024:004:00 BreakfastLunchDinner 8:00 12:008:00 Time Glargine or Detemir Basal-Bolus Regimen Plasma Insulin Lispro Aspart or Glulisine or Slide courtesy of Jay Skyler, MD

72 Features: Basal Rates Bolus wizard Alarms Temp basal & patterns Components: Pump Catheter site Insulin Cartridge

73 Measure interstitial glucose Requires calibration with blood glucose Readings every 2-5 minutes

74 Used for type 2 DM, rarely adjuvant to insulin in type 1 DM METFORMIN ROSIGLITAZONE/ PIOGLITIZONE (TZDs) GLIPIZIDE, GLYBURIDE (sulfonylureas)

75 Diabetic Ketoacidosis T1DM and new onset T2DM #1 cause of hospitalization in children with DM Cerebral edema occurs in 0.7-3% of DKA- 20% mortality Non-ketotic hyperosmolar coma Hypoglycemia

76 MICROvascular disease - Retinopathy - Nephropathy/ Microalbuminuria - Neuropathy MACROvascular disease - Coronary artery disease LOWER hemoglobin A1c = LOWER risk of complications

77 Type 1 DM (autoimmunity) Thyroid disease (10-15%) Celiac disease (~5%) Adrenal insufficiency (<1%) T2 DM (metabolic syndrome) Obesity Dyslipidemia Hypertension PCOS Fatty liver


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