REPRO_TEST 1: Ryan_Congenital Adrenal Hyperplasia/PEDS Flash Cards

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Title: REPRO_TEST 1: Ryan_Congenital Adrenal Hyperplasia/PEDS
Description: RT cards + pathoma
Number of Cards: 24
Save Count: 1
Author: dabunn9
Created: 2012-02-14
Tags: dabunn9 repro wvsom
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    • Question
    • Answer
    • Side 3
    • What is not produced/overproduced in 21B hydroxylase def?
    • not produced: aldosterone/cortisol

      overproduced: Androgens (progesterone, sex steroids)

      you want to drink at 21 but can't..
    • what is the most common CAH?
    • 21-Hydroxylase Deficiency

      Gene is located on the short arm of chromosome 6 near the C4 locus in close association with HLA genes.

      Heterozygous carriers can be detected by ACTH stimulation test.
    • what would your Na, K, and renin be like in 21-Hydroxylase Deficiency
    • decreased aldosterone

      Hyponatremia

      Hyperkalemia

      Increased Renin
    • girl presents with virilization, ambiguous genitialia, and hyponatremia..what does she have?
    • 21-Hydroxylase Deficiency

      so you don't have aldosterone--that gives hyponatremia
      have overproduction of androgens--virlization/ambigous genitalia
    • Male babies with non salt-losing non-classic type 21-deficiency remain asymptomatic till late childhood, then what happens?
    • may show signs of sexual precocity.
    • what happens in 11-B hydroxylase deficiency? (consider steroids and BP)
    • low renin activity and elevation of 11-deoxycotrisol and 11 deoxycorticosterone

      Because of the strong mineralocorticoid activity of deoxycorticosterone, the condition is characterized by salt retention, hypertension & hypokalemic alkalosis.

      The elevated plasma androgens may cause virilization of the female fetus.

      (in essence you have high aldosterone (though it is technically deoxycorticosterone) and high androgens)
    • What happens in 17-a-Hydroxylase deficiency
    • Can't make Cortisol and Androgens

      Cranks up Aldosterone

      at 17, all you want to do is have sex, but you can't because your genitalia is ambiguous (in boys; will not see virilization in girls)

      Genetic defect is on chromosome 10.
    • What happens in a 3-b-hydroxysteroid dehydrogenase deficiency?
    • cant convert DHEA to Androstenedione

      get a build up of DHEA

      It can cause virilization of female fetus and leads to ambiguous genitalia in the newborn
    • what are the 3 zones of the adrenal gland and what is produced in each?
    • Zona glomerulosa, which produces predominately mineralocorticoid

      Zona fasciculata, which produces predominately glucocorticoid

      Zona reticularis, which produces predominately androgens
    • what will growth be like in a person with CAH?
    • Increased linear growth with advanced bone age and eventual short stature
    • Needs alertness for the possibility in all babies with Diarrhea & Vomiting, hypoglycemia or increase BP
    • because the boys/girls can appear normal on physical exam
    • when does Non-salt losing CAH present? how?
    • late in childhood with precocious pubic hair and/or clitoromegaly, often accompanied by accelerated growth and advanced bone age
    • very high serum 17-hydroxyprogesterone is characteristic together with very high urinary pregnanetriol in what?
    • 21-hydroxylase deficiency
    • ____ is characterized by high serum 11-deoxycorticosterone and 11-deoxycortisol concentrations with elevation of its urinary metabolites
    • 11-b-hydroxylase deficiency

      **See hypertension & hypokalemic alkolosis**
    • a pelvic ultrasound is useful in an infant with ambiguous genitalia because...
    • in the infant with ambiguous genitalia a pelvic ultrasound can demonstrate the presence or absence of a uterus or associated renal anomalies
    • what can a urogenitogram do for you when dealing with a pt with ambiguous genitalia?
    • is often helpful to define the anatomy of the internal genitalia.
    • how does a CT scan help with ambiguous genitalia?
    • A CT scan of the adrenal gland to R/O bilateral adrenal hemorrhage in the patient with signs of acute adrenal failure
    • in tx of CAH, how do we suppress the ACTH to normal?
    • smallest dose of glucocorticoids that will suppress the increased ACTH to normal
    • recommened long term glucocorticoid tx for CAH?
    • Hydrocortisone 10-15 mg/m2/day divided in 3 oral doses.

      dose doubled during crisis
    • if you have a salt wasting form of CAH what do you give for tx?
    • Fludrocortisone (acts like aldosterone)
    • Children with CAH have an increased risk of developing what?

      *****TEST
    • mesodermal tumors e.g. osteogenic sarcoma, pulmonary liposarcoma, uterine leiomyomata and brain tumors.
    • Why is it hard to diagnose boys with CAH at birth?
    • Genitals appear normal...

      Girls will have AMBIGUOUS genitalia!!!
    • Salt wasting forms of adrenal
      hyperplasia are accompanied by

      ___serum aldosterone,

      hyponatremia

      hyperkalemia

      ___ plasma renin activity
    • low aldosterone

      hyponatremia

      hyperkalemia

      high renin activity
    • Hypertensive forms of
      adrenal hyperplasia (11-b-hydroxylase deficiency and 17-a-hydroxylase deficiency) are associated with:
      ___ plasma renin activity and ___kalemia.
    • low renin

      hypokalemia