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Endocrinology Pediatric Board Review Graeme Frank, MD.

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Presentation on theme: "Endocrinology Pediatric Board Review Graeme Frank, MD."— Presentation transcript:

1 Endocrinology Pediatric Board Review 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 2.1 The most likely diagnosis is: 1. Pseudohypoparathyroidism 2. Hypoparathyroidism 3. Vitamin D deficiency 4. Albright’s hereditary osteodystrophy Countdown 6

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

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 DiGeorge syndrome – thymic aplasia, congenital heart disease, immune deficiency

6 Biochemical changes in rickets Ca PO 4 Bone Urine N Minimal changes Stage 1 N Rickets Aminoaciduria Phosphaturia Glycosuria Bicarbonaturia Stage 2

7 Initial Ca: PO 4 : Alk Phos: ½ weeks months

8 Which is consistent with vitamin D deficiency rickets? Calcium Phos Alk Phos 1. Normal Normal Low 2. LowLow Low 3. LowHigh High 4. Low Normal Normal 5. NormalLow High Countdown 6

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

10 THYROID

11 Baby A, born on 5/27/10. Newborn screening tests, performed on 5/29/10 revealed: Normal range TSH37 µIU/ml< 20 T410.1 µg/dl9-19 Which 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 Countdown 6

12

13 Venipuncture: (1/25/10) Normal range TSH488  IU/ml( ) T41.2  g/dl( ) 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/dl9-19

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

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16 6 month female with congenital hypothyroidism..following 4 months therapy

17 A baby with gastroschisis has the following TFTs on day 5 of life: T4 2.1 μg/dL ( ) TSH 2.3 μIU/mL ( ) The most likely diagnosis is: 1. Hypothyroidism due to thyroid dysgenesis 2. Central hypothyroidism 3. TBG deficiency 4. Hypothyroidism from excess iodine exposure 5. Normal thyroid function (as the TSH is normal) Countdown 6

18 Central hypothyroidism - rare TBG deficiency 1:2800 vs.

19 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

20 TBG deficiency Centralhypothyroidism Free T4LowNormal TBG levelNormal Low T3RULowHigh

21 Thyroid function in a 17 year old: Normal range TSH:3.7 µIU/ml T4:13.4 µg/dl Which of the following medication could explain the thyroid function abnormality INH Retinoid acid Ciprofloxacin Ortho Tri-Cylen Doxycycline Countdown 6

22 Conditions that cause alterations in TBG Increased TBGDecreased TBG InfancyFamilial deficiency Estrogen Androgenic steroid treatment - OC PillGlucocorticoids (large dose) - pregnancyNephrotic syndrome Familial excessAcromegaly 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 1. Infectious 2. Inflammatory 3. Autoimmune 4. Toxic (drug) 5. Neoplastic Countdown 6

24 Normal thyroid Hashimoto thyroiditis

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

26 DC Start of thyroxine

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

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/ml T  g/dl T3 580 ng/dl90-190

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

30 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 ( 131 I) Pros :Easy. Essentially free of side effects Cons:Long term hypothyroidism Surgery  Blockers if markedly hyperthyroid Therapy for Graves disease:

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: 1. Testosterone hydroxyprogesterone 3. Serum sodium and potassium 4. DHEAS 5. DHEAS/androstenedione ratio Countdown 6

33 Cholesterol Pregnenolone Progesterone DOCA Corticosterone ALDOSTERONE 17 (OH) pregnenolone DHEA 17 (OH) progesteroneAndrostenedione Compound S CORTISOL TESTOSTERONE Desmolase 3-  -HSD 17-OH 21-OH 11-OH

34 If she has salt wasting congenital adrenal hyperplasia, which abnormalities are likely to develop. True or False for each a) Increased serum potassium b) Decreased serum sodium c) Decreased bicarbonate d) Decreased plasma cortisol e) 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: 1. Re-examination in 18 months 2. Refer the patient for an exploratory laparotomy 3. Begin therapy with LHRH 4. Measure the plasma testosterone after stimulation with HCG 5. Begin therapy with testosterone enanthate, 50 mg IM monthly for 3 months. Countdown 6

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

38 Emergency therapy Fluid resuscitation: 20 ml/kg Normal saline Glucocorticoid 2 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 XY Genotype Testosterone Estradiol Androgen Receptor Estrogen Receptor Aromatase Complete androgen insensitivity

43 15 yr female presents with primary amenorrhea. Breast development began at 10 y Tanner 5 breasts, scant pubic hair Which of the following clinical features is the most likely to give you the correct diagnosis 1. Blood pressure in all 4 extremities 2. Careful fundoscopic examination 3. Rectal examination 4. Measurement of blood pressure with postural change 5. Cubitus valgus and shield shaped chest Countdown 6

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

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

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

47 Early Puberty

48 The earliest sign of puberty in a male is: 1. Enlargement of the penis 2. Enlargement of the testes 3. Growth acceleration 4. Pubic hair growth 5. Axillary hair growth Countdown 6

49 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: 1. Ingestion of her mother’s OCPs 2. Precocious puberty 3. Premature adrenarche 4. Premature thelarche 5. McCune Albright Syndrome Countdown 6

50 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

51 5 year female with 6 months of pubic hair growth. Very fine axillary hair as well as adult odor to sweat. No breast development, no growth spurt The most likely diagnosis is: 1. Precocious puberty 2. Benign premature adrenarche 3. Non-classical congenital adrenal hyperplasia 4. Adrenal tumor 5. Pinealoma Countdown 6

52 Benign Premature Adrenarche Production of adrenal androgens before true pubertal development begins Presents as isolated pubic hair in mid childhood –No growth acceleration –No testicular enlargement in boys If normal growth rate, routine follow-up If accelerated growth and/or bone age advancement, screen for –CAH –Virilizing tumor (adrenal/gonadal)

53 Choose correct answer A. Premature theralche B. Premature adrenarche C. Both D. Neither 1. Growth acceleration 2. Normal adolescent sexual development 3. Onset of gonadal function usually in 3-4 years D C B

54 You suspect a 16 year female has Turner syndrome. The most definitive diagnostic test is 1. Buccal smear 2. Chromosome analysis 3. Measuring her FSH and LH 4. Determining her bone age 5. Determining her testosterone level Countdown 6

55 5 year old girl with pubic hair and rapid growth. She has no breast development Possible sources of androgens: 1.Liver 2.Adrenal 3.Ovary 4.Pituitary 5.Pineal T F F F T

56 5 year old girl with pubic hair and rapid growth. She has no breast development Which of the following should be considered Answer T or F for each: a)Central precocious puberty b)Congenital adrenal hyperplasia c)McCune Albright syndrome d)Benign premature adrenarche e)Adrenal tumor F T T F F

57 When does puberty occur? Classic teaching –8 -13 in girls (menarche ~ 2 years after onset of puberty) –9 -14 in boys Case: Breast development: 6 years Mother had menarche: 9.5 years

58 Why Reactivation of hypothalamic – pituitary –gonadal axis

59 Gonadatropin dependent (central) precocious puberty Clock turns on early Idiopathic > 95 % girls ~ 50 % boys > 95 % girls ~ 50 % boys –Hypothalamic hamartoma (Gelastic seizures) –NF (optic glioma) –Head trauma –Neurosurgery –Anoxic injury –Hydrocephalus

60 Treatment Why –Psychosocial –Height What –GnRH agonist

61 Gonadotropin independent precocious puberty

62 7 year male presents with 6 month history of pubic and axillary hair growth as well as adult body odor. Mother thinks he is growing faster than his peers No exposure to androgens PM&SH – nil of note Mother had menarche at 12 yr Father had normal timing of his puberty Medications – none

63 Height 50 th percentile (last height at 25 th ) Weight 40 th percentile No café au lait macules No goiter Heart and lungs: normal Abdomen: Firm hepatomegaly with irregular border PrepubertalAsymmetricPubertal Adrenal source Enlarged testicle Precocious puberty

64 Height 50 th percentile (last height at 25 th ) Weight 40 th percentile No café au lait macules No goiter Heart and lungs: normal Abdomen: Firm hepatomegaly with irregular border Genitalia: Pubic hair - Tanner 2 Scrotal thinning Testes 5 ml bilaterally (pubertal >3 ml) Rest unremarkable

65 7 year male with signs of puberty Pubertal Central precocious puberty Gonadotropins LH G Leydig cell LABS: Testosterone 48 ng/dl (<10) FSH <0.1 mIU/mL LH <0.1 mIU/mL TSH1.0 μIU/mL T4 8.9 μg/dL

66 Precocious puberty in the male Gonadotropins Prepubertal Pubertal Gonadotropin independentCentral precocious precocious pubertypuberty  HCG LH* McCune Albright syndromeGG * Familial male Precocious puberty (testotoxicosis) 1. Gonadotropin independent PP 2. Polyostotic Fibrous Dysplasia 3. Café au lait macules Leydig cell

67 Final diagnosis: Gonadotropin independent precocious puberty secondary to an βHCG secreting hepatoblastoma

68 5 year old with breast development and growth acceleration - Estradiol 62 pg/ml (<10) - FSH <0.1 mIU/mL - LH <0.1 mIU/mL Gonadotropin independent precocious puberty

69 McCune Albright syndrome: 1.Café au lait macules 2.Gonadotropin independent precocious puberty 3.Polyostotic fibrous dysplasia

70 Growth disorders and delayed puberty

71 Delayed puberty Hypogonadism Hypergonadotropic Hypogonadism (↑FSH, LH) Primary gonadal failure - Chromosomal - iatrogenic (cancer therapy) - autoimmune oophoritis - galactosemia - test. biosynthetic defect Hypogonadotropic Hypogonadism (  FSH, LH) Constitutional delay Central Hypogonadism - Isolate gonad. def. - MPHD - Kallmann (anosmia) - Functional

72 A 15 yr boy has short stature and delayed puberty. He is now in early puberty (Tanner 2). His parents are of average stature. His height and weight are just below 3rd percentile. All of the following are likely EXCEPT: 1. A bone age of 12 ½ years 2. Growth hormone deficiency 3. Adult height in the normal range 4. Acceleration of growth and sexual maturation over the next 2 years. 5. History of normal length and weight at birth Countdown 6

73 A 15 yr male has delayed puberty. He also has headaches, diplopia and increased urination. His height is < 3 rd percentile. Which of the following is the most likely diagnosis? 1. Diabetes mellitus 2. Pinealoma 3. Cerebellar tumor 4. Craniopharyngioma 5. Pituitary adenoma Countdown 6

74 A 14 yr male has tender gynecomastia (3 cm in diameter bilaterally). He is in early to mid puberty. In most cases the best management for this gynecomastia is: 1. Treatment with an anti- estrogen (e.g. Tamoxifen) 2. Treatment with an aromatase inhibitor 3. Treatment with a dopamine agonist (bromocryptine) 4. Surgery 5. Reassurance Countdown 6

75 Diabetes

76 A 12 year female patient presents with a 4 week history of polyuria, polydipsia, and marked weight loss. She is noted to have deep, sighing respiration. Glucose is 498 mg/dL, pH is Her electrolytes show Na 132, K 4.8, Cl 95 CO2 6 BUN 20 Creat 0.9. The MOST important initial management is: 1. insulin drip 0.1 u/kg/hr 2. ½ NS with 40 meq K at 2x maintenance 3. Bicarb 1 meq/kg slowly over 1 hour ml/kg normal saline bolus IV Countdown 6

77 GTT in a 16 year obese female: TimeGlucose (mg/dL) Which of the following statements are correct? This patient has: 1. Type 2 diabetes 2. Impaired glucose tolerance but normal fasting glucose 3. Normal glucose tolerance 4. Both impaired fasting glucose and impaired glucose tolerance Countdown 6

78 Fasting2 hr post load < 100< 140 Normal ≥ 100≥ 140 < 126< 200 Pre-diabetes ≥ 126≥ 200 Diabetes Definition of diabetes

79 This obese patient with IFG and IGT is at risk for the development of all the following EXCEPT 1. Type 2 diabetes 2. Dyslipidemia 3. Hypertension 4. Slipped capital femoral epiphysis 5. Hashimoto thyroiditis Metabolic syndrome Countdown 6

80 A 13 year male has new onset type 1 diabetes mellitus. Therapy for this child may include all of the following EXCEPT: 1. Glargine (Lantus) and Lipro insulin (Humalog) 2. Detemir (Levemir) and Aspart insulin (Novolog) 3. Metformin 4. Analog insulin administered via an insulin pump Countdown 6

81 Miscellaneous

82 Side effects of corticosteroids include all of the following except 1. hypertension 2. hypoglycemia 3. decrease bone mineralization 4. myopathy 5. cataracts Countdown 6

83 What is the most likely diagnosis in this newborn infant? 1. Mother has SLE 2. Anasarca from cardiac failure 3. Systemic allergic reaction 4. Congenital nephrotic syndrome 5. Turner syndrome

84 5 year old male with short stature 1. Turner syndrome 2. VATER syndrome 3. Albright’s hereditary osteodystrophy 4. Noonan syndrome 5. Goldenhar syndrome

85 A moderately obese adolescent female has irregular periods, hirsutism and acne. Of the following, which is the most likely diagnosis? 1. Cushing syndrome 2. Polycystic ovarian syndrome 3. Virilizing adrenal tumor 4. Non-classical CAH 5. Hyperprolactinemia

86 Choose correct answer A. Diabetes mellitus B. Diabetes insipidus C. Both D. Neither 1. Osmolality of serum > 300 Osm/L 2. Osmolality of urine > 500 mOsm/L 3. Hypernatremia 2 Na + BUN/2.8 + Gluc/18

87 Choose correct answer A. Diabetes mellitus B. Diabetes insipidus C. Both D. Neither 1. Osmolality of serum > 300 Osm/L 2. Osmolality of urine > 500 mOsm/L 3. Hypernatremia C A B 2 Na + BUN/2.8 + Gluc/18


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