Endo Flashcards

1
Q

Precocious puberty, cafe au lait lesions, asymmetric fibrous dysplasia of bones

A

McCune Albright syndrome

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2
Q

Initial work up when evaluating premature adrenarche in a young boy

A

testosterone, DHEAS, androstendione, bone age and 17-OHP - these rule out late onset CAH

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3
Q

LGA infant with accelerated growth velocity for first 5 years of life, associated with enlarged hands and feet with thickened subQ tissue. Generalized hypotonia

A

Sotos Syndrome

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4
Q

FDA indications for GH supplementation

A

Prader Wili, turners, SGA without catchup growth by 3 years of age, CKD prior to transplant, SHOX haploinsufficency, noonan syndrome, severe idiopathic short stature

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5
Q

Short stature, hypocalcemia, hyperPO4, high PTH, but with PTH resistance

A

pseudohypoparathyrodisim

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6
Q

Labs to draw prior to treatment of acute hypoglycemia

A

glucose, insulin, cortisol, growth hormone, ketones, lactate and pyruvate

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7
Q

Type 1 diabetes, autoimmune thyroid disease, Addison’s disease

A

Autoimmune polyglandular syndrome type 2

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8
Q

Chronic mucocutaneous candidasis, hypoparathyrodisim, addison’s disease, vitiligo, pernicious anemia, diabetes

A

Autoimmune polyglandular syndrome type 1

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9
Q

Central DI, diabetes mellitus, deafness and optic atrophy

A

Wolfram syndrome

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10
Q

Treatment for hypophosphatemic rickets

A

Phosphorus and calcitriol. Calcitriol helps increase intestinal absorption of phosphorous

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11
Q

Evaluation of premature thelarche

A

bone age, estradiol, LH/FSH

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12
Q

What might an infant with congential growth hormone deficiency present with

A

hypoglycemia, mircopenis an direct hyperbilirubinemia

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