11 Hydroxylase Deficiency

Category: generalpediatrics-Endocrinology

Findings: hypertension, low aldosterone, normal sodium levels

Question: What fits these findings?


21 Hydroxylase Deficiency

Category: generalpediatrics-Endocrinology

Findings: hyponatremia, hyperkalemia, lack of aldosterone, normal blood pressure, elevated 17 hydroxyprogesterone

Notes: Most common cause of congenital adrenal hyperplasia. Infant will need steroid treatment after birth.

Question: Which disease is associated with these findings?


Adrenal Insufficiency

Category: generalpediatrics-Endocrinology

Findings: hypoglycemia, elevated ACTH, hyperkalemia, myalgias, vomiting, hyponatremia, low aldosterone, elevated ADH, hyperpigmented skin

Notes: Also known as Addisons disease. Treat with hydrocortisone and fludrocortisone.

Question: Which disease is associated with these findings?


Beckwith-Wiedemann Syndrome

Category: generalpediatrics-Endocrinology

Findings: fetal hypertrophy, macroglossia, hepatosplenomegaly, nephromegaly, pancreatic beta cell hyperplasia

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?


Graves Disease

Category: generalpediatrics-Endocrinology

Findings: thyroid stimulating immunoglobulin (TSI), emotional lability, weight loss, heat intolerance, low TSH, high radioactive iodine intake, hyperactivity, poor sleep

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?


Hashimoto Thyroiditis (Chronic Lymphocytic Thyroiditis)

Category: generalpediatrics-Endocrinology

Findings: low T4, elevated TSH, painless and firm goiter, anti-TPO, anti-thyroglobulin

Notes: Low radioactive iodine uptake as thyroid is being destroyed.


Hypercalcemia

Category: generalpediatrics-Endocrinology

Findings: shortened QT interval, polyuria, vomiting, altered mental status, abdominal pain

Notes: Treat with IV hydration. May be caused by vitamin D and A overingestion, thiazide diuretics, immobilization, Williams syndrome, familial hypocalciuric hypercalcemia, and cancer.

Question: What fits these findings?


Hypocalcemia

Category: generalpediatrics-Endocrinology

Findings: Chvostek sign, Trousseau sign, paresthesias, prolonged QT

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.