Transcript Block 9 Board Review Part 2

Block 9 Board Review
Part 2
Endocrine
28Feb14
Chauncey D. Tarrant, M.D.
Chief of Residents 13-14
Why are we STILL reviewing
ENDOCRINE???
3.5% of Initial Certifying Exam!!!
Pediatrics In Review Articles
• Congenital Adrenal Hyperplasia
• Addison Disease
• Turner’s Syndrome
Congenital Adrenal Hyperplasia
What are the signs and symptoms of
CAH (adrenal crisis)??
What are the signs and symptoms of
CAH (adrenal crisis)??
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Genital Ambiguity (severe form/females)
Decreased activity/fatigue
Altered sensorium/unresponsiveness
Poor feeding/weak suck
Dry mucus membranes
Hyperpigmentation
Abdominal pain
Vomiting
Hyponatremia
Hyperkalemia
Hypoglycemia
Metabolic Acidosis
Hypothermia
Hypotension
Dehydration
Lack of Weight Gain
What is the lab evaluation for CAH?
What is the lab evaluation for CAH?
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CMP
Dex
ABG
Cortisol
ACTH
17OHP
Pelvic Ultrasound
Karyotype
Can CAH be diagnosed prenatally?
How?
Can CAH be diagnosed prenatally?
How?
• Yes
• Amniocentesis (14-18 wks)
• Chorionic Villous Sampling (10-12wks)
How do you treat adrenal crisis in a
patient with CAH??
How do you treat adrenal crisis in a
patient with CAH??
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Fluid resuscitation (20ml/kg bolus 0.9% NaCl)
Fluids at 1.5-2x maintenance
Hydrocortisone (stress dose-100mg/m2)
Central Access
Pressors (with higher glucose concentrations)
HyperK?? Consider C BIGK
What is the value in screening for salt
losing CAH in male infants with normal
genitalia?
What is the value in neonatal
screening for salt losing CAH in male
infants with normal genitalia?
• Prevent adrenal crisis in cases of male infant
that might not have otherwise been
suspected
Maternal exposure to what can lead to
virilization in female infants?
Maternal exposure to what can lead to
virilization in female infants?
• Androgens
Addison Disease
What are the signs and symptoms of
Addison Disease?
What are the signs and symptoms of
Addison Disease?
• Similar to adrenal crisis
– Abdominal pain, nausea, vomiting, fatigue,
muscle weakness, poor weight gain, loss of pubic
and axillary hair
• …BUT
– No elevated adrenal androgens
– Response of Cortisol and its precursors to ACTH is
blunted or absent
How can you use lab tests to diagnose
Addison disease?
How can you use lab tests to diagnose
Addison disease?
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Electrolytes
AM Cortisol
Plasma Renin
ACTH
ACTH stim test
How do you treat adrenal crisis in a
patient with Addison Disease?
How do you treat adrenal crisis in a
patient with Addison Disease?
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Fluid resuscitation (20ml/kg bolus 0.9% NaCl)
Fluids at 1.5-2x maintenance
Hydrocortisone (stress dose-100mg/m2)
Central Access
Pressors (with higher glucose concentrations)
HyperK?? Consider C BIGK
What are the complications of sudden
withdrawal of steroids in patients with
adrenal insufficiency?
What are the complications of sudden
withdrawal of steroids in patients with
adrenal insufficiency?
• Addisonian crisis
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sharp leg pain
Lower back or abdominal pain
nausea
Vomiting
hyponatremic dehydration
hyperkalemia
metabolic acidosis
hypotension
Hypoglycemia
Shock
sudden death
Turner’s Syndrome
What are the signs and symptoms of
Gonadal Dysgenesis (Turner’s
Syndrome)?
What are the signs and symptoms of
Gonadal Dysgenesis (Turner’s
Syndrome)?
• congenital lymphedema (swelling of the hands
or feet)
• webbed neck
• Low hairline
• shield chest with inverted and widely spaced
nipples
• Deformity of the ears
• nail dysplasia
• cubitus valgus
• short metacarpals
• micrognathia
What is the lab evaluation for gonadal
dysgenesis?
What is the lab evaluation for gonadal
dysgenesis?
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Karyotype
Serum LH
Serum FSH
Serum Estradiol
What is the importance of evaluating
for renal and cardiac disorders in
gonadal dysgenesis (Turner Syndrome)
What is the importance of evaluating
for renal and cardiac disorders in
gonadal dysgenesis (Turner
Syndrome)?
• High incidence of:
– Aortic valve defects (bicuspid Aortic valve) (2030%)
– Coarctation of the Aorta (3-10%)
– Horshoe Kidney
– **Increased risk of aortic dissection, EKG abnormalities, and HTN
– Initial Cards workup with 4pt BP, EKG, Echo, or Echo and MRI
PREP
A 4-year-old girl in your practice was noted to have
clitoromegaly at birth and was diagnosed with
congenital adrenal hyperplasia (CAH). She was
diagnosed as having classic CAH caused by 21hydroxylase deficiency and has been doing well on
glucocorticoids and mineralocorticoids prescribed
by her pediatric endocrinologist. Her mother is
considering another pregnancy and wishes to know
what she needs to be aware of in a future
pregnancy.
Of the following, you are MOST likely to tell her that
A. at birth, an affected female would be expected to have a similar degree of
virilization as her sister
B. at birth, an affected male is likely to have ambiguous genitalia
C. at birth, the majority of affected males will not require glucocorticoids and
mineralocorticoids
D. prenatal administration of dexamethasone is important for both male and
female fetuses
E. prenatal diagnosis for CAH can be accomplished using molecular
technologies through amniocentesis
A. at birth, an affected female would be expected to have a similar degree of
virilization as her sister
B. at birth, an affected male is likely to have ambiguous genitalia
C. at birth, the majority of affected males will not require glucocorticoids and
mineralocorticoids
D. prenatal administration of dexamethasone is important for both male and
female fetuses
E. prenatal diagnosis for CAH can be accomplished using molecular
technologies through amniocentesis
A mother of a patient in your practice reports that she is
currently 8 weeks pregnant and just discontinued use of
danazol, which she was taking for treatment of severe
endometriosis. She has been told that use of this
medication in the first trimester of pregnancy can be
associated with birth defects and wishes to know what
possible birth defects can be seen with use of this
medication in pregnancy.
Of the following, you are MOST likely to tell her that use
of danazol in pregnancy is associated with an increased
risk for
A. anterior abdominal wall defects
B. congenital heart defects
C. neural tube defects
D. renal malformations
E. virilization of a female fetus
A. anterior abdominal wall defects
B. congenital heart defects
C. neural tube defects
D. renal malformations
E. virilization of a female fetus
A 5-year-old girl with classic 21-hydroxylase deficiency
(congenital adrenal hyperplasia) develops gastroenteritis
with fever (up to 38.9°C), vomiting, and diarrhea. Her
regular medications include hydrocortisone and
fludrocortisone. Upon presentation to the emergency
department, she is tired-appearing and remains febrile.
Her pulse rate is 162 beats/min, blood pressure is 62/40
mm Hg, and capillary refill is poor. Laboratory tests drawn
in the emergency department are still pending, but
fingerstick glucose level is 42 mg/dL (2.3 mmol/L). The
patient is treated with a bolus of normal saline to restore
circulatory support.
Of the following, the MOST important therapy to
administer to this patient next is
A. cortisone acetate intramuscularly and aldosterone intravenously
B. cortisone acetate intramuscularly and dextrose intravenously
C. dopamine and dextrose intravenously
D. hydrocortisone hemisuccinate and aldosterone intravenously
E. hydrocortisone hemisuccinate and dextrose intravenously
A. cortisone acetate intramuscularly and aldosterone intravenously
B. cortisone acetate intramuscularly and dextrose intravenously
C. dopamine and dextrose intravenously
D. hydrocortisone hemisuccinate and aldosterone intravenously
E. hydrocortisone hemisuccinate and dextrose intravenously
During a regularly scheduled visit, the mother of a
10-year-old boy who has had type 1 diabetes
mellitus for 5 years expresses concern about her
son’s increased frequency of hypoglycemic episodes
over the past 3 months. She also notes that he is
increasingly tired and that his skin is getting tanner
even though he has not had any sun exposure.
Of the following, the MOST appropriate next step in
this boy’s management is to order a
A. cortisol level drawn at 7 am
B. cortisol level drawnat 4 pm
C. dexamethasone (1 mg) suppression test
D. high-dose (250 μg) corticotropin stimulation test
E. low-dose (1 μg) corticotropin stimulation test
A. cortisol level drawn at 7 am
B. cortisol level drawnat 4 pm
C. dexamethasone (1 mg) suppression test
D. high-dose (250 μg) corticotropin stimulation test
E. low-dose (1 μg) corticotropin stimulation test
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