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Endocrinology

Calcium. 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/dL Sodium 141 mEq/L Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL Magnesium2.1 mg/dL What is the diag

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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/dL Sodium 141 mEq/L Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL Magnesium 2.1 mg/dL What is the diagnosis? What are important considerations in this child?

    5. 6-week infant presents with seizure. Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL What is the diagnosis? HYPOPARATHYROIDISM What are important considerations in this child? Possible DiGeorge syndrome (thymic aplasia, congenital heart disease microdeletion of chromosome 22)

    6. Biochemical changes in rickets

    9. Choose correct answer Vitamin D deficiency rickets Renal osteodystrophy (renal rickets) Both Neither

    10. THYROID

    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

    17. You are contacted by Newborn screening program for a baby whose newborn thyroid screen at 3 days 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) What is the differential diagnosis?

    18. Central hypothyroidism - rare

    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

    22. Conditions that cause alterations in TBG

    29. Hashimoto thyroiditis

    33. Sexual differentiation

    34. 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

    36. If she has salt wasting congenital adrenal hyperplasia, which abnormalities are likely to develop Increased serum potassium Decreased serum sodium Decreased bicarbonate Decreased plasma cortisol Increased plasma renin activity

    39. Emergency therapy Fluid resuscitation: 20 ml/kg Normal saline Glucocorticoid 2 mg/kg Solucortef IV Monitor EKG

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

    41. Therapy and evaluation of therapy Glucocorticoid (Hydrocortisone) Monitor growth, 17-OHP, urinary pregnanetriol Fluorocortisol (Florinef 0.1 – 0.15 mg/day) Blood pressure, plasma renin activity (PRA) Supplemental salt (2.2 meq/kg/day Na) Until introduction of infant food

    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. Puberty

    46. 6 year old female with breast development 6 yr African American female with breast development

    47. History Few months of breast development No pubic or axillary hair No vaginal discharge Growth acceleration No history of exposure to estrogen

    48. Family history Family history Mother had menarche at 9.5 years ROS No Gelastic seizures

    49. PE Ht 75 % Last height 50 % Wt 75 % No hyperpigmented lesions/ café au lait macules Breasts T-2 PH T-1, no estrogen affect on the mucosa Growth acceleration

    50. Puberty What First sign: breast development testicular enlargement, >2 cm Isolated pubic hair is NOT puberty

    51. What Associated findings Growth acceleration Maximum accretion of bone Psychological changes

    52. When? Classic teaching 8 -13 in girls (menarche ~ 2 years after onset of puberty) 9 -14 in boys

    53. Why Reactivation of hypothalamic –pituitary –gonadal axis

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

    57. Differential diagnosis of precocious puberty Boys ß HCG secreting tumors Testotoxicosis McCune-Albright syndrome CAH 21-OH deficiency Adrenal/Testicular Tumor Exogenous steroids Girls McCune-Albright syndrome Ovarian Cyst Feminizing adrenal tumor Exogenous steroids

    58. Evaluation History FH Exposure PE Growth curve Tanner stage Pubic hair as well as genitals Neuro exam Skin Exam

    59. Evaluation Bone Age Labs LH FSH Sex Steroids ± Stimulation Test MRI (if pubertal gonadotropins) Pelvic and adrenal sonogram (if gonadotropins low)

    60. Treatment Why Psychosocial Height What GnRH agonist

    61. Case 16 year old dancer with no breast development or menstrual period HT 75% WT 10%

    62. Delayed puberty Lack of breast development by 13 years in girls Lack of testicular enlargement by 14 in boys

    64. Common Pubertal variants

    65. 2 year old girl with breast development No growth acceleration No bone age advancement No detectable estradiol, LH or FSH

    66. Benign Premature Thelarche Isolated breast development 80% before age 2 Rarely after age 4 Incidence 21.2/100,000 (0.02%) Resolved in 6 mo-6 yr Can be unilateral FSH elevated Small cysts on ovarian ultrasound

    67. 5year old girl with pubic hair No growth acceleration No breast development No virilization

    68. Benign Premature Adrenarche Production of adrenal androgens before true pubertal development begins Presents as isolated pubic hair No growth acceleration No testicular enlargement in boys Differential diagnosis CAH Virilizing tumor (adrenal/gonadal)

    70. “Observations upon growth and development are of the utmost importance during infancy and childhood… Only by this means are very many diseases detected in their incipiency”

    71. adapted Samuels, 2001 Causes of Growth Failure Normal patterns of growth Familial or genetic short stature Constitutional growth delay Primary growth disturbances Intrauterine growth retardation Genetic disorders   Chromosomal defects (Turner, Down syndrome)   Syndromes (Noonan, Prader-Willi, Russell-Silver) Disproportionate short stature   Skeletal dysplasias   Spinal irradiation Systemic illnesses Hypocaloric    - Malnutrition, GI disease (IBD, celiac disease)    - Poorly controlled diabetes Metabolic    - Renal (RTA, nephrogenic diabetes insipidus, renal failure)    - Hepatic   - Cardiac (cyanotic heart disease)    - Hematologic (chronic anemias)    - Respiratory (CF, severe asthma [hypoxemia])    Chronic infections

    72. adapted Samuels, 2001 Causes of Growth Failure Endocrine disorders - Hypothyroidism    Congenital    Acquired - Glucocorticoid excess    Exogenous steroid use    Endogenous - Growth hormone deficiency    Isolated    Multiple hormonal deficiencies

    73. Growth rates by age 0-12 months: 9-11 inches/year rapid catch up and down 12-36 months: 3-5 inches/year on own curve by 3 years 3- puberty: 2-2.5 inches/year Magical 2”/year greater than 3”/year may signal early puberty

    74. Mom is 4’11” Dad is 5’4” How tall will their sons and daughters likely be?

    75. Calculation of Mid-parental height and target height Range     MPH(boy)= Father’s Height +(Mother’s Height + 5”) 2   MPH(girl)= (Father’s height-5”)+Mother’s height 2   Target height range=MPH+4”

    77. Assessment and when to refer Growth velocity less than 2 inches/year Crossing centiles after 3 years of age Inappropriate height for family Abnormal timing of puberty

    78. Growth rates by age Puberty delayed puberty, compared to peers or absolute: > 13 year in girls, >14 years in boys, very common reason for referral delayed puberty causes you to fall off your curve despite a normal velocity

    79. JC 4 5/12 boy referred for short stature Fall off the growth chart for past 18 months PMH negative Late teether Father 5 ft 6 in, mother 5 ft 7 in Tried “Pro HGH” No growth

    80. Physical PE 90.6 cm (-3SD),10.4 kg Non focal

    81. Labs Normal TFTs, CBC, SMAC, ESR, celiac screen IGF-1 24 ng/ml (17-124) Bone age 2 8/12 GH stim test peak 5 ng/ml (>7.5 ng/ml) MRI GH rx

    82. Indications GH deficiency Turner Syndrome Chronic Renal insufficiency Prader Willi SGA Idiopathic short stature

    83. Diabetes

    84. 6 year old with 2 week history of polyuria, polydypsia and enuresis Weight loss Anorexia

    85. If he is tachypneic: Think DKA

    86. Diabetic Ketoacidosis Hyperglycemia Usually greater than 300 mg/dl Ketosis Acidosis Ph < 7.3

    87. Management Fluid Treat shock NS bolus @ 20 ml/kg Paradoxical drop in pH Rehydrate over 48 hours Insulin Correct 100 mg/dl/hour May need to add dextrose

    88. Factitious hyponatremia For every 100 mg/dl rise in glucose, 1.8 meq/l decrease in sodium Patients are total body potassium depleted Monitor level of consciousness Never sedate

    89. Categories Type 1 (>90%) Insulin dependent Ketosis prone autoimmune Type 2 Insulin resistant Usually associated with obesity Treatment Insulin Diet Secretagogues Insulin sensitizers

    90. MODY Maturity onset diabetes of youth Defective insulin secretion Non-ketotic Familial DIDMOAD (Wolfram syndrome) DI, DM optic atrophy and deafness

    91. Rapid Aspart (Novolog) Lispro (Humalog) Glulisine (Apidra) Regular NPH Ultra long acting Glargine (Lantus) Detemir (Levemir)

    92. Quick points Up to 7 % of kids with Type 1 diabetes have celiac disease Unexplained hypoglycemia Poor growth Abdominal symptoms Other associated autoimmune diseases Hashimoto’s thyroiditis Addison’s disease Autoimmune oophoritis

    93. Hypoglycemia 30 hour old male with glucose of 20 mg/dl Glucose < 40 mg/dl in newborn Glucose < 50 mg/dl in child

    94. Hypoglycemia Decreased substrate Poor intake Defective glycogenolysis or gluconeogenesis Increase utilization Sepsis Hyperinsulinism Absent counter regulatory hormones GH Cortisol

    95. Back to the NICU… Hyperinsulinism Macrosomic Infant of a diabetic mother (transient) Hypopituitary Small Microphallus Midline defects

    96. Critical Sample Glucose Remember, drops 10mg/dl/hr in a red-top tube Insulin Cortisol Growth Hormone

    97. Let’s make him a 4 year old Mild URI symptoms Poor dinner, went to bed at 6 PM 6 AM found listless EMS called

    98. Fingerstick glucose 30 What do you think? What should be done?

    99. A bit more history Otherwise healthy child PMH, FH, ROS all negative Height 50 % Weight 10% “acetone” on his breath

    100. Differential (as before plus….) ketotic hypoglycemia “skinny little kid disease” Unable to liberate enough glucose from liver stores to satisfy overnight fast Remember, he ate poorly and slept long.. Disorders of intermediary metabolism MCAD, LCAD, etc “hypoketotic hypoglycemia” Ingestions

    101. Evaluation Critical sample GH, Cortisol, insulin, glucose Acyl Carnitine profile (MCAD,LCAD) Serum Acetone Lactate Urine ketones

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