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21 Cards in this Set
- Front
- Back
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What is not produced/overproduced in 21B hydroxylase def?
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not produced: aldosterone/cortisol
overproduced: Androgens (progesterone, sex steroids) you want to drink at 21 but can't.. |
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what is the most common CAH?
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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. |
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what would your Na, K, and renin be like in 21-Hydroxylase Deficiency
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decreased aldosterone
Hyponatremia Hyperkalemia Increased Renin |
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girl presents with virilization, ambiguous genitialia, and hyponatremia..what does she have?
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21-Hydroxylase Deficiency
so you don't have aldosterone--that gives hyponatremia have overproduction of androgens--virlization/ambigous genitalia |
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Male babies with non salt-losing non-classic type remains asymptomatic till late childhood, then what happens?
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may show signs of sexual precocity.
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what happens in 11-B hydroxylase deficiency? (consider steroids and BP)
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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) |
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What happens in 17-a-Hydroxylase deficiency
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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. |
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What happens in a 3-b-hydroxysteroid dehydrogenase deficiency?
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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 |
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what are the 3 zones of the adrenal gland and what is produced in each?
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Zona glomerulosa, which produces predominately mineralocorticoid
Zona fasciculata, which produces predominately glucocorticoid Zona reticularis, which produces predominately androgens |
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what will growth be like in a person with CAH?
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Increased linear growth with advanced bone age and eventual short stature
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Needs alertness for the possibility in all babies with Diarrhea & Vomiting, hypoglycemia or increase BP
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because the boys/girls can appear normal on physical exam
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when do Non salt losing CAH present? how?
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late in childhood with precocious pubic hair and/or clitoromegaly, often accompanied by accelerated growth and advanced bone age
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very high serum 17-hydroxyprogesterone is characteristic together with very high urinary pregnanetriol in what?
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21-hydroxylase deficiency
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____ is characterized by high serum 11-deoxycorticosterone and 11-deoxycortisol concentrations with elevation of its urinary metabolites
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11-b-hydroxylase deficiency
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a pelvic ultrasound is useful in an infant with ambiguous genitalia because...
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in the infant with ambiguous genitalia a pelvic ultrasound can demonstrate the presence or absence of a uterus or associated renal anomalies
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what can a urogenitogram do for you when dealing with a pt with ambiguous genitalia?
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is often helpful to define the anatomy of the internal genitalia.
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how does a CT scan help with ambiguous genitalia?
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A CT scan of the adrenal gland to R/O bilateral adrenal hemorrhage in the patient with signs of acute adrenal failure
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in tx of CAH, how do we suppress the ACTH to normal?
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smallest dose of glucocorticoids that will suppress the increased ACTH to normal
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recommened long term glucocorticoid tx for CAH?
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Hydrocortisone 10-15 mg/m2/day divided in 3 oral doses.
dose doubled during crisis |
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if you have a salt wasting form of CAH what do you give for tx?
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Fludrocortisone (acts like aldosterone)
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Children with CAH have an increased risk of developing what?
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mesodermal tumors e.g. osteogenic sarcoma, pulmonary liposarcoma, uterine leiomyomata and brain tumors.
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