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Pediatric Board Review. Endocrinology. Graeme Frank, MD. Calcium.

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  1. Pediatric Board Review Endocrinology Graeme Frank, MD

  2. Calcium

  3. An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination.Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1The most likely diagnosis is: • Pseudohypoparathyroidism • Hypoparathyroidism • Vitamin D deficiency • Albright’s hereditary osteodystrophy 6 Countdown

  4. Ca PO4 1. 2. 3. 25 OH Vit D 1,25 (OH)2 Vit D 1 hydroxylase Gut NET EFFECT Actions of PTH

  5. This same 6-week infant with hypoparathyroidism (Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1) What is an important diagnostic consideration (i.e. what is the underling disorder causing the hypoparathyroidism)? DiGeorge syndrome – thymic aplasia, congenital heart disease, immune deficiency

  6. Minimal changes N Aminoaciduria PhosphaturiaGlycosuria Bicarbonaturia N Stage 2 Rickets Biochemical changes in rickets Ca PO4 Bone Urine Stage 1

  7. 2 ½ weeks 4 months 9.8 3.5 2185 10.5 6.5 518 Initial Ca: PO4: Alk Phos: 9.7 3.1 2514

  8. Which is consistent with vitamin D deficiency rickets? • Normal Normal Low • Low Low Low • Low High High • Low Normal Normal • Normal Low High CalciumPhosAlk Phos 6 Countdown

  9. Choose correct answer • Vitamin D deficiency rickets • Renal osteodystrophy (renal rickets) • Both • Neither B 1. Increased phosphate level 2. Increased PTH level 3. Increased creatinine level C B


  11. Baby A, born on 5/27/10. Newborn screening tests, performed on 5/29/10 revealed: Normal rangeTSH 37 µIU/ml < 20T4 10.1 µg/dl 9-19Which statement is most accurate: • Baby A has congenital hypothyroidism warranting urgent therapy • Baby A will develop mental retardation if untreated • Baby A likely does not have any thyroid abnormality • Baby A has an altered hypothalamic set-point for T4 6 Countdown

  12. You are contacted by your state Neonatal Thyroid Screening Program. Baby X was born on 1/4/10. His newborn screening tests, performed on 1/6/10 revealed: Initial filter paper Normal range TSH >200 IU/ml < 20 T4 2.1 g/dl 9-19 Venipuncture: (1/25/10) Normal range TSH 488 IU/ml(0.3-5.5) T4 1.2 g/dl(4.5-12.5)

  13. Congenital hypothyroidism • Thyroid dysgenesis/agenesis • Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks 1 in 32,000] • 2:1 female to male ratio • Clinical features include:hypotonia, enlarged posterior fontanelle, umbilical hernia, indirect hyperbilirubinemia • Laboratory findings: Very high TSH and low T4 • Therapy: Thyroxine – keep TSH in normal range

  14. ..following 4 months therapy 6 month female with congenital hypothyroidism

  15. A baby with gastroschisis has the following TFTs on day 5 of life:T4 2.1 μg/dL (4.5-12.5) TSH 2.3 μIU/mL (0.3-5.0)The most likely diagnosis is: • Hypothyroidism due to thyroid dysgenesis • Central hypothyroidism • TBG deficiency • Hypothyroidism from excess iodine exposure • Normal thyroid function (as the TSH is normal) 6 Countdown

  16. Central hypothyroidism - rare vs. TBG deficiency1:2800

  17. Thyroxine (T4) • Major product secreted by the thyroid • Circulates bound to thyroid binding proteins - thyroid binding globulin (TBG) • Only a tiny fraction (< 0.1%) is free and diffuses into tissues • When we measure T4, we measure the T4 that is bound to protein • The level of T4 is therefore largely dependent on the amount of TBG • Changes in T4 may reflect TBG variation rather than underlying pathology

  18. TBG deficiency Central hypothyroidism Free T4 Low Normal TBG level Normal Low T3RU Low High

  19. Thyroid function in a 17 year old: Normal rangeTSH: 3.7 µIU/ml 0.3-5.5T4: 13.4 µg/dl 4.5-12Which of the following medication could explain the thyroid function abnormality • INH • Retinoid acid • Ciprofloxacin • Ortho Tri-Cylen • Doxycycline 6 Countdown

  20. Conditions that cause alterations in TBG Increased TBGDecreased TBG Infancy Familial deficiency Estrogen Androgenic steroid treatment - OC Pill Glucocorticoids (large dose) - pregnancy Nephrotic syndrome Familial excess Acromegaly Hepatitis Tamoxifen treatment

  21. A 12-yr female has diffuse enlargement of the thyroid. She is asymptomatic. Her disorder is most likely associated with which of the following pathological processes • Infectious • Inflammatory • Autoimmune • Toxic (drug) • Neoplastic 6 Countdown

  22. Hashimoto thyroiditis Normal thyroid

  23. DC • 16 year 7 month • Growth failure x 1 1/2 years • Labs:TSH:1008 µIU/ ml (0.3-5.0)T4:<1.0µg/dl (4-12)Antithyro Ab.232U/ml (0-1)A-perox Ab. 592 IU/ml (<0.3)Prolactin:29ng/ml (2-18) Cholesterol:406mg/dl (100-170)

  24. DC Start of thyroxine

  25. Hashimoto thyroiditis Background: Autoimmune destruction of the thyroid Family history in 30-40% Lymphocytic infiltration Clinical: Growth failure, constipation, goiter, dry skin, weight gain, slow recoil of DTR Laboratory: High TSH Anti-thyroglobulin and anti-peroxidase antibodies Therapy: Thyroxine

  26. 15 year old female with a history of easy fatigability. Found to have an elevated pulse rate at recent MD visit Thyroid function:Normal range TSH < 0.1 IU/ml0.3-5.5 T4 14.8 g/dl4.5-12 T3 580 ng/dl 90-190

  27. Restlessness, poor attention span Eye changes Goiter Tachycardia, wide pulse pressure Increased GFR - polyuria Diarrhea Menstrual abnormalities Myopathy

  28. Therapy for Graves disease: Antithyroid medication(Methimazole or Propylthiouracil [PTU])Pros : 25% remission rate every 2 years Cons: Drug induced side effects - skin rashes, agranulocytosis, lupus-like reaction Radioactive iodine (131I) Pros : Easy. Essentially free of side effects Cons: Long term hypothyroidism Surgery  Blockers if markedly hyperthyroid

  29. Sexual differentiation

  30. Ambiguous genitalia is found in a newborn. The baby is noted to be hyperpigmented. Ultrasound demonstrates the presence of a uterus. The most useful test to aid in the diagnosis of this medical condition is: • Testosterone • 17-hydroxyprogesterone • Serum sodium and potassium • DHEAS • DHEAS/androstenedione ratio 6 Countdown

  31. Cholesterol Desmolase 17-OH Pregnenolone 17 (OH) pregnenolone DHEA 3--HSD 3--HSD 3--HSD 17-OH 17 (OH) progesterone Androstenedione Progesterone 21-OH 21-OH DOCA Compound S TESTOSTERONE 11-OH 11-OH Corticosterone CORTISOL ALDOSTERONE

  32. If she has salt wasting congenital adrenal hyperplasia, which abnormalities are likely to develop. True or False for each • Increased serum potassium • Decreased serum sodium • Decreased bicarbonate • Decreased plasma cortisol • Increased plasma renin activity T T T T T

  33. A 1-year male infant has non palpable testes. Of the following, the most appropriate next step would be: • Re-examination in 18 months • Refer the patient for an exploratory laparotomy • Begin therapy with LHRH • Measure the plasma testosterone after stimulation with HCG • Begin therapy with testosterone enanthate, 50 mg IM monthly for 3 months. 6 Countdown

  34. History 9 day old male infant 1 day history of decrease feeding, vomiting and lethargy. Examination Ill appearing infant with poor respiratory effort Vital signs: T 99 F HR 100/min BP 61/40 RR 24/min Resp: Subcostal retractions but clear to auscultation Cardiac: Regular rate and rhythm. Normal S1 and S2 Abdomen: Soft, non distended. Non tender. No HSM Neuro: Lethargic. No focal deficit Genitalia: Normal male. Bilateral descended testes

  35. Laboratory data: Na 121 K 9.3 Cl 83 CO2 6.7 Glucose 163 BUN/Creat 33/0.2 WBC 16.7 Hb 16.4 Hct 49 Plt 537 K CSF: Chemistry: Protein 74 Glucose 82 Microscopy: WBC 6 RBC 100

  36. Emergency therapy • Fluid resuscitation:20 ml/kg Normal saline • Glucocorticoid2 mg/kg Solucortef IV • Monitor EKG

  37. Modes of presentation • Classical • Simple virilizing • Virilizing with salt loss • “Non classical” / Late onset

  38. Therapy and evaluation of therapy • Glucocorticoid (Hydrocortisone) • Monitor growth, 17-OHP, urinary pregnanetriol • Fluorocortisol (Florinef 0.1 – 0.45 mg/day) • Blood pressure, plasma renin activity (PRA) • Supplemental salt • Until introduction of infant food

  39. History 15 year female presents with primary amenorrhea Breast development began at 10 years Examination Height: 5 ft 7 in Weight 130 lb Tanner 5 breast development Scant pubic hair What is your diagnosis?

  40. Testosterone Androgen Receptor Aromatase Estrogen Receptor Estradiol Complete androgen insensitivity XY Genotype

  41. 15 yr female presents with primary amenorrhea.Breast development began at 10 yTanner 5 breasts, scant pubic hairWhich of the following clinical features is the most likely to give you the correct diagnosis • Blood pressure in all 4 extremities • Careful fundoscopic examination • Rectal examination • Measurement of blood pressure with postural change • Cubitus valgus and shield shaped chest 6 Countdown

  42. No SRY OVARY No testosterone No AMH Wolfian duct regression Mullerian ducts Fallopian tubes Uterus Upper vagina Normal female external genitalia Gonadal Primordia Female TESTIS Leydig cells Sertoli cells nor DHT Testosterone No AMH Mullerian duct regression Wolfian ducts DHT Epidymus Vas deferens Seminal vesicles Normal male ext. genitalia

  43. SRY TESTIS Leydig cells Sertoli cells No testosterone No AMH Testosterone AMH Mullerian duct regression Wolfian duct regression Mullerian ducts Wolfian ducts DHT Epidymus Vas deferens Seminal vesicles Fallopian tubes Uterus Upper vagina Normal female external genitalia Normal male ext. genitalia Gonadal Primordia Y Chromosome nor DHT

  44. SRY TESTIS Leydig cells Sertoli cells No testosterone No AMH Testosterone AMH Mullerian duct regression Wolfian duct regression Mullerian ducts Wolfian ducts DHT Epidymus Vas deferens Seminal vesicles Fallopian tubes Uterus Upper vagina Normal female external genitalia Normal male ext. genitalia Gonadal Primordia Y Chromosome nor DHT

  45. Early Puberty

  46. The earliest sign of puberty in a male is: • Enlargement of the penis • Enlargement of the testes • Growth acceleration • Pubic hair growth • Axillary hair growth 6 Countdown

  47. 2 year old girl with breast development. No growth acceleration. No bone age advancementNo detectable estradiol, LH or FSHThe most likely diagnosis is: • Ingestion of her mother’s OCPs • Precocious puberty • Premature adrenarche • Premature thelarche • McCune Albright Syndrome 6 Countdown

  48. Benign Premature Thelarche • Isolated breast development • 80% before age 2 • Rarely after age 4 • Not associated with other signs of puberty (growth acceleration, advancement of bone age) • Children go on to normal timing of puberty and normal fertility • Benign process • Routine follow-up

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