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Endocrinology

Endocrinology. Calcium.

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Endocrinology

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  1. Endocrinology

  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.Lab data:Glucose 88 mg/dLSodium 141 mEq/LCalcium 5.1 mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL The most likely diagnosis is: • Pseudohypoparathyroidism • Hypoparathyroidism • Vitamin D deficiency • Albright’s hereditary osteodystrophy

  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. 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.Lab data:Glucose 88 mg/dLSodium 141 mEq/LCalcium 5.1 mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL The most likely diagnosis is: • Pseudohypoparathyroidism • Hypoparathyroidism • Vitamin D deficiency • Albright’s hereditary osteodystrophy

  6. 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.Lab data:Glucose 88 mg/dLSodium 141 mEq/LCalcium 5.1 mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL What is an important diagnostic consideration (i.e. what else is the child at risk for) DiGeorge syndrome – thymic aplasia, congenital heart disease, immune deficiency

  7. Minimal changes N Aminoaciduria Phosphaturia N Rickets Biochemical changes in rickets Ca PO4 Bone Urine Stage 1 Stage 2

  8. 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

  9. Which is consistent with vitamin D deficiency rickets? CALCIUM PHOS ALK PHOS • Normal Normal Low • Low Low Low • Low Increased Increased • Low Normal Normal • Normal Low Increased

  10. 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. THYROID

  12. A 15 day infant has an abnormal newborn thyroid screen result: The baby was born on 5/27/07. His newborn screening tests, performed on 5/29/07 revealed: • Normal range • TSH 37 IU/ml< 20 • T4 10.1 g/dl9-19 • This child: • Has congenital hypothyroidism and should be referred to a congenital hypothyroidism treatment center • Will likely develop mental retardation if untreated • Likely does not have any thyroid abnormality • Has an altered hypothalamic set-point for T4 • Should be started on thyroxine replacement immediately

  13. You are contacted by your state Neonatal Thyroid Screening Program. Baby X was born on 1/4/01. His newborn screening tests, performed on 1/6/01 revealed: Initial filter paper Normal range TSH >200 IU/ml < 20 T4 2.1 g/dl 9-19 Venipuncture: (1/25/01) Normal range TSH 488 IU/ml(0.3-5.5) T4 1.2 g/dl(4.5-12.5)

  14. 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

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

  16. A baby who was born with gastroschisis has an abnormal newborn thyroid screen at 3 days which revealed a low T4 and normal TSH. Repeat venipuncture showed: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 dysgenesis of the thyroid gland • Central hypothyroidism • TBG deficiency • Hypothyroidism from excess iodine exposure • Normal thyroid function (as the TSH is normal)

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

  18. 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

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

  20. 17 year old female who complains of easy fatigability. Her mother developed Graves’ disease at the same age. • Thyroid function:Normal range • TSH: 3.7 IU/ml0.3-5.5 • T4: 13.4 g/dl4.5-12

  21. 17 year old female who complains of easy fatigability. Her mother developed Graves’ disease at the same age. • Thyroid function:Normal range • TSH: 3.7 IU/ml0.3-5.5 • T4: 13.4 g/dl4.5-12 • Which of the following medication could explain the thyroid function abnormality • INH • Ortho Tri-Cylen • Retinoid acid • Ciprofloxacin • Doxycycline

  22. 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

  23. 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

  24. Hashimoto thyroiditis Normal thyroid

  25. 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)

  26. DC Start of thyroxine

  27. 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

  28. 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

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

  30. 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

  31. Sexual differentiation

  32. 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

  33. 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

  34. 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

  35. A 1-year male infant has non palpable testes. Of the following, the most appropriate next step would be • Schedule a 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.

  36. 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

  37. 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

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

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

  40. 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

  41. 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?

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

  43. 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 Which 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

  44. Complete androgen insensitivity • XY genotype • Non functioning androgen receptor • Sertoli cells – AMH • Regression of Mullerian structures • Leydig cells – testosterone • No functioning receptor • Therefore Wolffian regression • Testosterone converted to DHT • No functioning receptor • Therefore normal female external genitalia

  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

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

  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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