Block 9 Board ReviewPart 2

Endocrine28Feb14

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)??

• 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?

• 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??

• 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?

• 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?

• 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 – 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?

• 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) (20-

30%)– 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 21-hydroxylase 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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