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43 Cards in this Set

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  • Back
what does the adrenal cortex synthesize, what pathways? 3
mineralcorticoids
androgens
glucocorticoids
what do the adrenal maintain
regulate BP glucose Na and water
regulate sexual development
mediation of the bodies response to stress - cortisol
which type of CAH is most common
nonclassic - more mild than classic form
what is the net result of increased production from the adrenal gland
cortisol precursors and androgens
this enzyme is a chromosome 6, HLA linked, cytochrome p450 that is found in ER, it catalyzes the conversation of 17 to 11 - a precursor of cortisol and the conversion of progesterone to deoxycortisone, precursor for aldosterone
21 hyroxylase
this disorder gluocorticoid syntheses remains impaired, deoxycortisol accumulates and causes HTN
11-B hyroxylase
what type of genetic component is CAH
autosomal recessive - 1/8 females are affected if both parents are known carriers
what is a compound heterozyotes form of CAH
inheriting two different mutations from both parents
what is the mild defect inherited by both parents

null mutation inherited from both parents cause what type

null mutation and mild defect cause what
mild - nonclassic
Null - classic salt wasting
Null and mild - in between
describe the normal feedback loop
hypothalmus secretes CRF - pituitary gland then produces ACTH - which stimulates adrenals to produce cortisol - then feeds back to hypothalamus to stop secretion
what abnormal feedback loop in CAH
block at 21-hydroxylase decreases cortisol production which stimulates adrenals to secrete ACTH - cause hypertrophy of adrenals and overproduction of DHEA
which deficiency is most common CAH
21-OHD second is 11-OHD
what are symptoms of classic CAH
severe
prenatal exposure to potent androgens starting at 7 weeks gestation virilizing the external genitalia of genetic females often result in genetic ambiguity at birth
what are symptoms of non classic CAH
mild to moderate deficiency
postnatally have signs of hyperandrogenism - females not virilized at birth
what race is most common for non classic CAH
jews
hispanic
yugoslavs
italians
what are manifestations of CAH classic form
virilzation
electrolyte instability - dehydration, vomiting, metabolic alkalosis
adrenal crisis - first 4 weeks

children/adolescent:
precocious puberty
rapid growth in childhood, early closure of plates, irregular menses
infertility
male - testes small or tumors
what do Classic CAH lack
cortisol to mount stress response and succumb to minor illness
what are symptoms of salt wasting
feeding issue
FTT
low BP
vomiting
dehydration
metabolic acidosis
low Na high K
adrenal crisis
hard to diagnose males at birth bc penis normal
what does female at birth look like
encarged clitoris, fusion of labia, urogenital sinus instead of vagina
what do males with CAH have
uterus and fallopian tubes because in utero AMH hormone prevents development but is not blocked CAH
what are signs and symptoms of mild CAH in females
most apparent in adolescent girls and women - irregular or absent menses, virilization or infertility
what are signs and symptoms of mild CAH in males
early beard growth
enlarged phallus and small testes
what are mild CAH symptoms in children
early puberty
rapid growth then premature closure of plates
severe acne
slow recovery from infections mild to mod recurrent sinus or pulmonary infection
hyperpigmentation
what are mild CAH symptoms in women
cliteromegaly
poorly developed labia
hirsutism
PCOS
what are mild CAH symptoms in adults
HTN - 21HPO
advanced bone age
obesity
low bone density
in nonclassic CAH what is of excess and what is normal in regards to hormones
normal cortisol and adosterone at expense of mild to moderate overproduction of sex hormones
when should diagnosis be considered in newborns
with ambiguous genitalia
what labs would you assess to determine classic vs nonclassic
17-OHP elevated
Plasma renin elevated with 21-OHD
low aldosterone with salt wasting
elevated progesterone and testosterone
ACTH stim positive with 21-OHD
low sodium and high k - sale wasting
which tests are abnormal in salt wasting CAH
serum electrolytes
plasma renin
elevated 21-OHD
how to assess degree of prenatal virlization in females
assessment of genitalia
gentiogram - check structure
how do you assess postnatal virlization in males and females
bone maturation
serum concentration of adrenal androgens
check DHEA, testosterone and androsterone
what is the treatment goals of classic CAH
replace deficient steroids while minimizing SE
minimize adrenal sex hormones and gluococorticoids excess, prevent virilization and optimize growth, protect fertility
what is the treatment plan for CAH
mineralcorticoid - salt wasting
glucocorticoids
sodium chloride replacement
stress treatment
genital surgery - 2 - 6 months of life in females
psychosocial assessment and support
when would you give mineralcorticoids
for salt wasting CAH
all newborns with classic CAH should be treated
base on BP
sodium chloride supplements as needed
what med is the most physiologically similar to coritsol and has lower potential for growth suppression
hydrocortisone
what is the common side effect of hydrocortisone when 17 or 11 HPO are at normal levels
cushings
what are some follow up labs of CAH to see if therapy is adequate
electrolytes
17 OHP
androstenedione
testosterone
PRA or renin
every 3 months infancy then 4-12 months after
what are some associated problems with CAH treatment
acute adrenal insufficiency
accelerated bone growth
virilization
problems with sexual development
precocious puberty
reduced fertility
testicular masses
congenital anomalies
how often should you check bone age
first 2-3 years of life or at diagnosis if adequate treatment then every few years
what are signs and symptoms of acute adrenal insufficiency
n/v
pallor
cold, moist skin
weakness
dizziness
rapid heart rate
rapid breathing
abdominal, back or leg pain
dehydration
hypotension
what are goals of glucocorticoids
focus changes from optimizing final height to concerns related to long term SE
goal is to achieve near suppression of 17-OHP
what are goals of mineralcorticoids
require close monitoring
salt wasting is not as significant
increased risk of HTN
rennin should be used to adjust dosages
avoid permanent fertility
what common illnesses should you adjust steroids in CAH
increase 2-3 x dosage with URI or allergies
any bacterial illness should increase dose and start antibiotics immediately
fever - start tylenol and increase dose
vomiting - IM
injury - IM