Endocrinology

Question 1

short stature

Answer 1

• MCC (beyond 1-2y), familial (genetic) short stature, constitutional short stature (constitutional delay of growth and puberty)
• sxs: height 2 SDs below mean for indivs of same sex and chronological age, Ht <2/3rd percentile
  
  • do not require further evals unless progressively declining height percentiles (growth failure), dysmorphic features, evidence of underlying systemic dz
• signs: height velocity - serial measurements of height/length
• dx: evaluate growth rate (height velocity) more sensitive indicator, check bone age if normal growth rate, no other sxs (delayed = 2+ SD below mean), check nutrition (albumin), CBC, electrolytes, BUN/Cr, calcium, phosphate, alk-phos, UA, ESR/CRP, celiac serologies, thyroid testing, LH/FSH, karyotype - females (CMA if dyspmorphic)
• tx: growth hormone tx for children with ISS (dx of exclusion, height predicted by the mid-parental height, given SQ daily)
• health maint: serial growth measurements

Question 2

hyperthyroidism in infants

Answer 2

• F>M, MCC in children is graves dz
• sxs: jittery, loose stool, worsening school performance, poor concentration, hyperactivity, fatigue, emotionally labile, nervous, personality disturb, insomnia, weight loss, palps, heat intol, sweating
• signs: tachycardia, tremor, proximal mm weakness, warm skin
• dx: TFTs, TSH low, total T3 high, free T4 high, autoantibody tests (antithyroid peroxidase Ab, TS immunoglobulin)
• tx: sxatic relief (propranolol relieves tachycardia, tremor, sweating, anxiety), anti-thyroid meds (methimazole, PTU)

Question 3

hypothyroidism

Answer 3

• severe cretinism (congenital hypothyroid), mental impairment, AAP recommends screening between 2-4d of birth
• sxs: round face, hirsute forehead, large ant/post fontanelle, wide suture, protruding tongue, hoarse cry, distended abd, prolonged jaundice, lethargy, poor weight gain, constipation
• signs: dry skin, hypoactivity, poor feeding, mottling, hypothermia, poor muscle tone, macroglossia, hypertelorism
• dx: TFTs, serum TSH high (most sensitive), free T4 low, Ab testing, CBC (normocytic anemia MC)
• tx: levothyroxine

Question 4

obesity

Answer 4

• 12-19: BMI >95th percentile for age and gender (obese), 85-95% (overweight)
• RF: obesity, HTN, tonacco use, high lipid levels
• comorbidities: social marginalization, poor self-esteem, depression, poor QOL
• sxs: altered consciousness, deep breathing, fruity breath odor
• complications: DVT, PE, asthma, OSA, proteinuria, gallstones, risk for cirrhosis and colon cancer, Blount disease, SCFE, flat feet, dyslipidemia, HTN, LVH, type 2 DM, PCOS, hypogonadism
• dx: 85-94th percentile - fasting lipis, no RF necessary; 94-95th + RF - fasting lipids, AST/ALT, serum gluc; >95th - fasting lipids, AST/ALT, serum gluc
  
  • wt goals (if obese): <12 = maint 1lb/mo, >12 = 2lb/wk
  • med for >12 = orlistat (lipase inhibitor)
• tx; recommended >/= 5 servings of fruits and veggies per day, no more than 2h screen time per day, minimize or eliminate sugar-sweetened beverages, address eating behaviors, recommend >/= 1h mod activity per day, involve whole family in lifestyle change

Question 5

DM type I

Answer 5

• onset: slow in adults, rapid in children, autoimmune, Finland/Sardinia (by Italy)
• Type 1A: immune mediated, HLA associated, white, no FHx, autoantibody (+)
• Type 1B: idiopathic, AA/Asian, autoantibody (-), FHx
• sxs: 3Ps (polyuria, polydipsia, polyphagia), wt loss, infxn, nocturia, blurry vision
• dx: autoimmune markers, GAD65 autoAbs, islet cell autoAbs, insulin autoAbs, C-peptide low (no active insulin in body)
• tx: insulin pen, vial and basal bolus with carb counting, check gluc at least 4x daily

Question 6

DM type II

Answer 6

• insulin resistance: hyperinsulin at first, then hypoinsulinemic
• insulin resistance doesnt change - insulin secretion changes, B-cell decline gradual, def of amylin, def of GLP-1: stops glucagon, satiety, inc insulin release, postprandial gluc increases over time
• RF: first deg relative, age, obesity
• sxs: blurred vision, 3Ps, WIN, Acanthosis nigricans, ketonuria and wt loss (rare), fatigue, pruritus, recurrent candidal vaginitis, blurred vision, poor wound healing
• dx: randome glucose >200 (w/ sxs), fasting >126 (2+ occasions), HbA1C >6.5%, OGTT if fasting 100-125, diabetic dyslipidemia (high TGs, low HDL, altered LDL)
• tx: diet, exercise, wt loss, metformin
• goal of HbA1C = 6-6.5, FBS goal = 100-124, 1-2 PP (<180), screen annually

Question 7

dawn phenomenon and somogyi phenomenon

Answer 7

• dawn phenomenon: increased resistance to insulin in the early morning d/t counter-reg hormones
  
  • tx: increase overnight basal insulin, exercise, metformin, TZD
• somogyi phenomenon: rebound fasting hyperglyc following undetected hypoglyc overnight, excess hunger, wt gain, worsening hyperglyc
  
  • tx: dec overnight basal insulin or eat a snack at bedtime

Question 8

hypercalcemia

Answer 8

• children sxs: hypotonicity, muscle weakness, apathy, mood swings, bizarre behavior, N/V/abd pain
• signs: hyperextensibility of jnts, HTN, bradycardia, cardiac abnlities, short QT, intractable peptic ulcer, pancreatitis (adults), dec DTRs
• dx: labs (serum Ca >11), slit lamp exam (band keratophathy - deposits in cornea or conjunctiva), radioimmunoassay of PTH: high in primary PT, low in occult malig, radioimmunassaay of PTH-related protein (high in malig), bone scan or bone surg (lytic lesions), urinary cAMP (elevated in primary PTH)
• tx: inc urinary excretion (vigorous hydration - IV normal saline first step), loop diuretics (lasix - forced Ca diuresis with diuretic like furosemide), inhibit bone resorption in pts with malig (bisphosphs, calcitonin), give steroidds if vitD related and multiple myeloma, hemodialysis for renal failure