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ENDOCRINOLOGY BOARD REVIEW September 24, 2010. Growth.

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Presentation on theme: "ENDOCRINOLOGY BOARD REVIEW September 24, 2010. Growth."— Presentation transcript:

1 ENDOCRINOLOGY BOARD REVIEW September 24, 2010

2 Growth

3  After 18mos of age, growth curve should be followed closely  Between 4y/o and adolescence, growth below 4- 5cm/yr should be assessed  Percentiles should not be crossed  Pubertal growth spurt  Girls  early puberty  Boys  midpuberty

4 Growth Rate per Year AgeInchesCentimeters Birth to 1 year7 to 1018 to 25 1 to 2 years4 to 510 to 13 2 years to puberty2 to 2.55 to 6 Pubertal growth spurt-girls2.5 to 4.56 to 11 Pubertal growth spurt-boys3 to 57 to 13

5 Question 1 Choose the correct statement comparing “familial or genetically determined short stature” and “constitutional delay of growth,” in regards to bone age. A. Familial = delayed/ constitutional = advanced B. Familial = equivalent/ constitutional = delayed C. Familial = delayed/ constitutional = equivalent D. Both are delayed

6 Constitutional delay of growth  Variant of normal growth and pubertal development  Period of decreased linear growth within first 3yrs of life  Downward crossing of percentiles  Linear growth resumes at normal rate  Along lower growth percentiles  Family history of “Late Bloomers”

7 Constitutional Growth Delay: Note deceleration followed by normal growth rate

8 Question 2 The physical findings depicted below corresponds to which tanner stage? A. I B. II C. III D. IV E. V

9 Tanner Staging  Boys: Staged by genital development and pubic hair – starts at 9-14  Testis volume >= 4mL is pubertal Mark of pubertal onset  Girls: Staged by breast development and pubic hair – starts at 10 ½  Stage II = breast buds Mark of pubertal onset  Stage IV = Areola elevated above breast (secondary mound)

10 Hypothalamus and Pituitary

11 Hypothalamus  Neuroectodermal tissue  Inferior third ventricle  Pituitary stalk

12 Pituitary  Anterior  Upgrowth of ectodermal cells from Rathke’s pouch  Posterior  Downgrowth of neural tissue cells from the hypothalamus

13 Question 3 You are evaluating a patient in clinic and notice the abnormality pictured. Which of the following is most likely to be affected? A. Growth hormone levels B. Aldosterone levels C. Catecholamine levels D. Insulin levels

14 Anterior Pituitary  Growth Hormone  Secretion GH-releasing factor  Inhibition Somatostatin  IGF-1, IGF-BP3

15 Anterior Pituitary  Growth Hormone  Deficiency Normal birth weight Normal growth pattern x 1 year “Kewpie” doll appearance, “cherubic” Short, excess subq fat, retarded body proportion changes and high-pitched voices Diagnosed with stimulation test

16 Anterior Pituitary  ACTH  Secretion CRF from hypothalamus  Inhibition Cortisol from adrenals Prolonged steroid use

17 Anterior Pituitary  Gonadotropins  Secretion GnRH Hypothalamus sends pulses Increases during puberty  Inhibition Inhibin  FSH Aromatase (androgen to estrogen) Spermatogenesis  LH Testosterone Androstenedione (estradiol)

18 Anterior Pituitary  TSH  Secretion TRH  Inhibition Thyroid Hormone  Actions Increases iodide uptake, thyroglobulin synthesis and thyroid hormone

19 Anterior Pituitary  Prolactin  Acts directly on target organ  Initiation and maintenance of lactation  Inhibited by dopamine from hypothalamus  Hyperprolactinemia Galactorrhea Pituitary adenomas Medication Neuroleptics, antipsychotics, estrogens and anti-hypertensives

20 Question 4 You are on call in the PICU and following a very sick patient admitted with meningococcal meningitis. He has not had any urine output in the last 8 hours despite fluid administration. You order a BMP and his Na is 125. What is the most likely cause of the hyponatremia in this patient? A. Diabetes insipidus B. Psychogenic polydipsia C. Inappropriate fluid administration D. SIADH

21 Posterior Pituitary  Hormones synthesized in hypothalamus and stored in posterior pituitary  Vasopressin  AVP or ADH  Released in response to increased osmotic pressure in the blood  Water balance Increased reabsorption of water in collecting ducts of kidneys Arteriolar vasoconstriction – HTN Increased thirst

22 Posterior Pituitary  Vasopressin  Overproduction Head trauma, brain tumors, encephalitis, pneumonia SIADH HA, apathy, nausea, vomiting, impaired consciousness Decreased plasma osmolarity  Underproduction Central Diabetes Insipidus (DI) Pituitary tumors, head trauma, infiltrative diseases, autoimmune or surgical Increased plasma osmolarity

23 Posterior Pituitary  Vasopressin  Resistant Nephrogenic DI Tubules in kidney cannot respond Genetic or acquired (lithium)  Oxytocin  Released in response to nerve stimulation  Contraction of the smooth muscle of the uterus and myoepithelial cells lining the ducts of mammary glands

24 Thyroid

25  Location  Neck  Base of tongue  Mediastinum  Hormones  Thyroxine (T4)  Tri-iodothyronine (T3)  Need iodine for synthesis  Transported by TBG, albumin and transthyretin  Free hormone is active

26 Thyroid  Goiter  Hyper or hypo  Nodules  70-80% benign or cystic  1-1.5% of all childhood cancers  Neck irradiation, family history of medullary carcinoma, rapid growth, fixation to adjacent structures, enlarged lymph nodes

27 Question 5 A mother brings in her teenage daughter for hyperactivity and emotional lability. ROS is positive for diarrhea, weight loss and heat intolerance. On physical exam you notice tachycardia and a slight prominence of the eyes. A laboratory evaluation would most likely reveal: A. TSH, freeT4, + TSH receptor antibodies B. TSH, free T4, + antithyroperoxidase antibodies C. TSH, free T4, + TSH receptor antibodies D. TSH, free T4, + antithyroperoxidase antibodies

28 Thyroid  Hyperthyroid  Soft and fleshy gland  Tachycardia  Weight loss  Increased frequency of bowel movements  Heat intolerance  Nervousness  Widened pulse pressure  Tremor  Fatigue  Warm, moist skin  Fine, friable hair  Separation of distal margin of nail bed  Restlessness  Inability to sit still  Emotional lability  Short attention span  Excessive sweating

29 Thyroid  Hyperthyroidism  Graves Disease Stimulating antibody to TSH receptor Exopthalmos Proptosis and lid lag  Large gland Warm on palpation  Bruit  Labs Increased T3 and T4 Decreased TSH

30 Thyroid  Congenital Hypothyroidism  1 in 4000  Cretinism Broad nasal bridge Coarse facial features Mental retardation Short stature Puffy hands Protuberant tongue Delayed skeletal maturation  Treatment within 3-4 weeks  Newborn Screening

31 Thyroid  Hypothyroid  Hypothalamic abnormalities  Pituitary abnormalities  Iodine deficiency  Chronic lymphocytic thyroiditis  Hashimoto thyroiditis Anti-thyroid antibodies Thyroglobulin Thyroperoxidase Positive FH Increased TSH, decreased T4

32 Thyroid  Hypothyroid symptoms  Firm or bosselated gland  Congenital vs Acquired  Dry skin  Constipation  Hair loss  Fatigue  Cold intolerance  Apathy  Depressed or delayed relaxation

33 Acquired hypothyroidism: Note the sharp deceleration in growth before the onset of symptoms. Following initiation of therapy significant catch-up growth is seen.

34 Calcium and Phos Metabolism

35 PTH  Bone:  Increases release of Ca and Phos  Intestine:  Increased re-absorption of Ca and Phos  Kidney:  Increases excretion of Phos  Decreases excretion of Ca  Stimulates Synthesis of Vit D3

36 Effects of PTH BoneIntestineKidneyNet Effect Ca Phos

37 Vitamin D  Bone  Increases release of Ca  Increases release Ph  Intestine  Increases absorption of Ca  Increases absorption of Ph  Kidney  Improves reabsorption of Ca  Increases reabsorption of Ph

38 Vitamin D BoneIntestineKidneyNet Effect Ca Phos

39 Calcitonin  Bone  Inhibits reabsorption of Ca  Inhibits reabsorption of Ph  Intestine (no specific effects)  Kidney  Decreases reabsorption of Ca  Decreases reabsorption of Ph

40 Net Effect of 3 Hormones CaPhos Vit D PTH Calcitonin

41 Hyperparathyroidism  Results in hypercalcemia  Manifestation of multiple endocrine neoplasia I (MEN 1)  Autosomal dominant  Islet cell tumors  Zollinger-Ellison syndrome  Pituitary tumors

42 Symptoms: Paresthesias Irritability Muscle Cramps Tetany Seizures Hypocalcemia

43 Question 6 A two day old infant experiences a prolonged seizure with respiratory arrest requiring intubation. BMP reveals hypocalcemia, and CXR demonstrates absent thymic shadow. Genetic testing is likely to reveal: A.Trisomy 21 B.Trisomy 18 C. Deletion of 22q11.2 D.Deletion of 15q13.3 E.  F508 Mutation

44 Hypoparathyroidism  Idiopathic (Autoimmune)  DiGeorge Syndrome  Dysmorphic features  Cardiac defects  Immune deficiency  Thymic aplasia  Low PTH  Deletion of 22q11.2  May present with seizures secondary to hypocalcemia Calow Phigh PTHlow

45 Pseudohypoparathyroidism  PTH is elevated  Unresponsiveness to PTH (Bone/Kidney/Both)  Albright hereditary osteodystrophy  Suspect in short child with hypocalcemia Ca low P high PTH high

46 Albright hereditary osteodystrophy

47 Vitamin D-Deficient Rickets  Vitamin D deficiency may result from  Inadequate sunlight exposure  Malabsorption  Drugs that affect Vit D Phenytoin, phenobarb  Signs/Symptoms  Poor linear growth  Delayed walking  Muscle weakness  Bone pain  Hypotonia  Anorexia Ca NL/low P low PTH high AlkP high

48 Vitamin D-Deficient Rickets

49 Others  Vitamin D-Resistant Rickets  Resistance to Vit D, even when high amounts used  Findings in first months of life  Pseudovitamin D-Deficiency Rickets  AKA 1  hydroxylase deficiency or Vit-D dependent rickets type I Findings appear in early infancy Autosomal recessive

50 Adrenals

51 Adrenal Gland  Cortex  Glucocorticoids  Mineralocorticoids  Androgens  Medulla  Epinephrine  Norepinephrine

52 Adrenal Glands  Cushing  Excessive glucocorticoids  Endogenous or exogenous steroid exposure  Causes Adrenal tumors Pituitary adenomas (Cushing disease) Ectopic ACTH production

53 Adrenal Gland  Features of Cushings Rounded facies Plethora Central obesity Impaired linear growth Fatigue Hypertension Buffalo hump Muscle weakness and muscle wasting Skin is thin and easily bruised Osteopenia/osteoporosis

54 Adrenal Gland  Cushings Labs  Elevated 24-hour urine free cortisol excretion  Elevated salivary cortisol  Delineating the cause High- and low-dose dexamethasone suppression tests

55 Adrenal Gland  Addison’s Disease  Insufficiency Glucocorticoid Mineralocorticoid  Causes Autoimmune destruction Tuberculosis Autoimmune polyendocrine syndromes Adrenoleukodystrophy, Wolman disease, hereditary unresponsiveness to ACTH, Allgrove syndrome, and congenital adrenal hypoplasia Massive adrenal hemorrhage can occur with meningitis or traumatic births

56 Adrenal Gland  Addison’s  Weight loss  Wasting of subcutaneous tissue  Hyperpigmentation  Weak  Confused  Decreased circulating plasma volume

57 Adrenal Gland  Addison  Labs Hyponatremia Hyperkalemia  Less pronounced disease in ACTH deficiency  If untreated Weaken Vascular collapse

58 Question 7 A 3-week-old female infant is brought to the ER for vomiting, decreased oral intake and lethargy of 3 days’ duration. Because the infant had not regained her birthweight at the 2-week visit, the mother was instructed to wake her every 2 hours to breastfeed. On PE, the infant’s temp is 98.6F, HR 190, BP 60/30. She appears thin and lethargic and has a poor suck. Her anterior fontanelle and eyes appear sunken, and her CR is 3 secs. You note an enlarged clitoris and partial labial fusion. Assessment of serum electrolytes in this infant is MOST likely to reveal A. Hyperchloremia B. Hyperglycemia C. Hypernatremia D. Hypokalemia E. Hyponatremia

59 Adrenal Gland  CAH  Autosomal recessive  Symptoms reflect specific defect 21-hydroxylase deficiency Most common Decreased glucocorticoid Hypoglycemia Decreased mineralocorticoid (severe forms) Salt-wasting Hyperkalemia/hyponatremia Elevated 17-hydroxyprogesterone Excess androgens Masculinization Shock and death if untreated

60

61 Adrenal Gland  Other forms of CAH  Less severe 21-hydroxylase deficiency May present later Premature pubarche, rapid growth, skeletal maturation  11 β-hydroxylase  17α-hydroxylase Delayed puberty Undervirilization of males

62 Adrenal Gland - Medulla  Pheochromocytoma  Rare  Catecholamine-secreting tumor Norepinephrine, Epinephrine, Dopamine (rarely)  Symptoms HA, diaphoresis, palpitaions, tremor, nausea, weakness, anxiety, weight loss Hypertension (episodic), AMS, arrhythmia  Syndromes MEN 2A, 2B, NF, VHL  Diagnosis Plasma metanephrines, 24-hour urine catecholamines and metanephrine

63 Sexual Differentiation

64  SRY gene  Short arm of Y chromosome  Promotes differentiation of Sertoli cells  Mutations lead to male to female sex reversal  Ambiguous genitalia  “the baby”  Endocrine, urology, psychologist or social worker  Palpate for gonads

65 Sexual Differentiation  Ambiguous Genitalia  CAH No palpable gonads 17-hydroxyprogesterone  Leydig cell hypoplasia, inborn errors of testosterone synthesis, androgen insensitivity Palpable gonads LH, FSH, testosterone, dihydrotestosterone  Complete androgen insensitivity Externally female Uterus absent Labial or inguinal gonads

66 Sexual Differentiation  Persistent mullerian duct syndrome  Persistance of structures in normal 46,XY male  Cryptorchidism or testicular ectopia  Defect in anti-mullerian hormone  Agenesis of the phallus  Developmental

67 Question 8 You are examining a 2-week-old male infant for the first time and note an undescended right testicle. His mother asks when is the optimal time to correct this problem. The MOST appropriate time at which to recommend surgical repair for this infant if spontaneous descent has not occurred is A. 4 months B. 12 months C. 24 months D. 36 months E. 48 months

68 Cryptorchidism  Migration  Kidneys to scrotum  3% of male infants  Treatment 6-12 months Orchiopexy  Increased risk for malignancy Surgical intervention does not alter risk

69 Precocious Puberty

70  Girls  <8  Boys  <9  Central  Gonadotropin-dependent Activation of HPG axis FSH, LH  Hypothalamic hamartomas Gelastic seizures  Intracranial neoplasms

71 Precocious Puberty  Gonadotropin- independent  Increased gonadal steroids  No HPG axis involvement  McCune-Albright syndrome Café-au-lait Polyostotic fibrous dysplasia Precocious puberty  Gonadal or adrenal neoplasms Rare  Familial male-limited precocious puberty

72 Question 9 During the hospital discharge examination of a term female neonate, you palpate a 1-cm mass beneath her right nipple. There is no erythema at the site and no discharge from either nipple. The mass is nontender and freely mobile. The genitalia appear mildly swollen but are otherwise normal. Of the following, the MOST appropriate treatment is A. Excisional biopsy B. Fine-needle aspiration of the mass C. IM gonadotropin-releasing hormone D. Oral cephalexin E. Reassurance of the parents

73 Premature Thelarche  Breast tissue development  Uni or bilateral  May regress or persist  Diagnosis of exclusion  No other signs of pubertal development  Exogenous estrogen  1-2y  Self-limited  Normal in neonates

74 Premature Pubarche  Pubic hair <8y in girls; <9.5y boys  Axillary hair, body odor, acne  Due to  Premature adrenal pubertal maturation PCOS  Late onset CAH  Tumor - rare

75 Delayed Puberty

76  Constitutional Delay  Normal variant  Central  Kallmann Syndrome Hypothalamic hypogonadism  Acquired Trauma, neoplasm, infiltrative disorders, hyperprolactinemia, chronic illness - anorexia, CF, sickle cell  Gonadal  Turner, Klinefelter  Trauma, chemotherapy, radiation

77 Delayed Puberty  Other  Androgen insensitivity Inguinal or labial mass Primary amenorrhea  17-hydroxylase deficiency Cannot produce sex steroids

78 Turner Syndrome  XO  Short stature  Gonadal failure  Streak ovaries  Other  Cubitus valgus, shieldlike chest, webbed neck  Cardiac  Renal  Mosaic

79 Klinefelter Syndrome  47, XXY  Small, firm testes  Gynecomastia  Neurobehavioral difficulties

80 You will get more diabetes than you ever dream of on Purple team! Diabetes

81 Hypoglycemia

82

83  Signs and symptoms  ANS, Epinephrine, CNS glucopenia  Fasting vs. Stress vs. Iatrogenic  Hyperinsulinism  Most common cause in neonates  Mutations of enzymes, iatrogenic, adenoma  Beckwith-Wiedemann Macrosomia, macroglossia, omphalocele, hemihypertrophy and embryonal tumor

84 Hypoglycemia  Ketotic hypoglycemia  Common cause of childhood hypoglycemia  18 months to 5 years  Resolves by 8 to 9 years  Other  Hypopituitarism, GSD, disorders of gluconeogenesis

85 Obesity

86 Question 10 You care for a 17-year-old boy who is overweight. He has gained 44 lb (20 kg) in the last year, especially in his abdominal area. On examination today, his blood pressure is 158/90 mm Hg using a large, appropriately sized cuff. His mother has a similar body habitus and is being treated for type 2 DM. Of the following, the MOST likely abnormalities to expect in this patient if his presentation continues into adulthood is A. High triglycerides and low HDL B. Hypoglycemia from insulin sensitivity C. Low concentrations of C-reactive protein in the blood D. Low fibrinogen concentration with bleeding diatheses E. Low triglycerides and low LDL

87

88 Obesity  Look for causes of secondary obesity  Endocrine  Genetic  CNS  Metabolic Syndrome  Obesity  Insulin resistance  Dyslipidemia  HTN  Increased risk of developing Type 2 DM and CV disease  Look for PCOS Hyperandrogenism, irregular menses, chronic anovulation


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