Notes: Increased risk of Wilms tumor, adrenocortical carcinoma, and hepatoblastoma. Needs abdominal ultrasound and alpha fetoprotein measurement every 3 months up to age four, renal ultrasound every 3 months from age four to seven.
Question: What fits these findings?
Congenital Hypothyroidism
Category: generalpediatrics-Endocrinology
Findings: large tongue, hoarse cry, hypotonia, umbilical hernia, large posterior or anterior fontanelle, puffiness, constipation
Notes: Number one cause is thyroid dysgenesis (malformation, agenesis, ectopic). Patient should have elevated TSH and low free T4. Treat immediately with levothyroxine as soon as evident on newborn screen even before verifying with thyroid studies as hypothyroidism can cause developmental delay.
Question: Which disease is associated with these findings in a newborn?
Craniopharngioma
Category: generalpediatrics-Endocrinology
Findings: tumor that is most common cause of pituitary hormone deficiency
Notes: Other than tumor, pituitary hormone deficiency may also be caused by radiation or prior surgery.
DHEAS
Category: generalpediatrics-Endocrinology
Findings: lab to order to check for adrenal tumor causing premature adrenarche (pubic hair development before age 9 for boys and age 8 for girls and prior to tanner 2)
Notes: Dehydroepiandrosterone sulfate (DHEAS) will cause premature adrenarche independent of central precocious puberty.
Question: What fits these findings?
Early Vitamin D Deficiency
Category: generalpediatrics-Endocrinology
Findings: normal calcium, low phosphorus, low vitamin D level
Notes: Initially, elevated PTH from low phosphorus increases serum calcium.
Fluid Bolus
Category: generalpediatrics-Endocrinology
Findings: Diabetic ketoacidosis
Notes: Normal saline bolus. Add glucose once blood glucose is less than 200-300. Make sure to replenish potassium. There may be some pseudohyponatremia, with a decrease in serum sodium of 1.6 for every increase in glucose by 100.
Question: What is first line treatment for the following?
Notes: Treat with methimazole, propanol for symptoms, iodine ablation, thyroidectomy, and PTU, which is toxic but preferred during pregnancy. An enlarge thyroid here is packed with thyroid hormone and will take a long time to shrink to normal size.
Question: What fits these findings?
Growth Hormone Deficiency
Category: generalpediatrics-Endocrinology
Findings: micropenis, hypoglycemia, direct hyperbilirubinemia
Notes: May also be caused by panhypopituitarism and seen concurrently with Prader-Willi or Kallmann syndrome
Question: Which disease is associated with these findings?
Notes: Treat with IV hydration. May be caused by vitamin D and A overingestion, thiazide diuretics, immobilization, Williams syndrome, familial hypocalciuric hypercalcemia, and cancer.
Notes: Treat with calcium gluconate to prevent arrhythmias. Early causes are diabetic mother, asphyxia, maternal hyperparathyroidism, IUGR. Late causes occur a week later and include DiGeorge, Vitamin D deficiency, hypoparathyroidism, renal failure, nephrotic syndrome, hypomagnesemia, hyperventilation, ethylene glycol.
Question: What fits these findings?
Hypoparathyroidism
Category: generalpediatrics-Endocrinology
Findings: low calcium, high phosphorus
Notes: Also may be pseudohypoparathyroidism (high PTH but with receptor resistance) or phosphorus overload
Question: What endocrine problem fits these findings?
Kidneys or renal
Category: generalpediatrics-Endocrinology
Findings: normal calcium, high phosphorus
Notes: Also may be caused by excess growth hormone or a high phosphorus diet.
Question: Which organ dysfunction may lead to these findings?
Late Vitamin D Deficiency
Category: generalpediatrics-Endocrinology
Findings: low calcium, low phosphorus, high PTH
Notes: Lack of vitamin D eventually leading to poor absorption of calcium and phosphorus.
Question: What fits these findings? (Early Vitamin D Deficiency, Late Vitamin D Deficiency)
Mullerian Inhibitor Hormone Deficiency
Category: generalpediatrics-Endocrinology
Findings: penis, testes, basic uterus and fallopian tubes
Notes: Genetic XY male not able to regress uterus and fallopian tubes
Question: Which disease is associated with these findings?
Prolactinoma
Category: generalpediatrics-Endocrinology
Findings: headache, amenorrhea, galactorrhea
Notes: Also may cause visual field defects. Most common anterior pituitary tumor in adolescents. Diagnose by MRI.
Question: What fits these findings?
Rickets
Category: generalpediatrics-Endocrinology
Findings: widening of wrist and ankle physes, bow legs, anorexia, poor growth, enlarged costochondral junctions, delayed fontanelle closure, frontal bossing, bad tooth enamel
Notes: Caused by vitamin D deficiency for various reasons
Secondary Adrenal Insufficency
Category: generalpediatrics-Endocrinology
Findings: low ACTH, ACTH stimulation test does increase cortisol levels, normal sodium and potassium levels
Notes: Caused by pituitary defect. Treat with just hydrocortisone as renin-angiotensin system is intact.
Question: Which disease is associated with these findings? (Primary Adrenal Insufficiency, Secondary Adrenal Insufficiency)
Sotos Syndrome
Category: generalpediatrics-Endocrinology
Findings: born at large percentile, rapid growth during first few years of life and slows to normal growth rate, normal growth hormone levels, mildly advanced bone age, big hands and feet
Notes: Puberty occurs at normal time or a bit earlier.
Thyroglossal Duct Cyst
Category: generalpediatrics-Endocrinology
Findings: midline cystic lesion on anterior neck
Notes: Do an ultrasound and treat with surgical excision if thyroid is intact.
Thyroxine-binding Globulin Deficiency
Category: generalpediatrics-Endocrinology
Findings: normal TSH, low T4
Notes: Check free T4, which should be normal. No treatment is then required.