Peds Brandau Flashcards

1
Q

hypotonia, feeding difficulty, hypogonadism, hyperphagia and obesity after age 2, short stature, small hands

A

prader willi syndrome

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2
Q

lab eval of hypoglycemia

A

pelvic and renal US - looking for testes in abdomen or for uterine canal or renal malformation

hormone panel - pituitary fxn

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3
Q

fetal growth

A

caused by insulin - not GH

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4
Q

born with single umbilical artery

A

should have screening US for abdomen and kidney

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5
Q

smith lemli opitz syndrome

A
microcephaly
low set ears
micrognathia
genital abnormalities
micropenis
cardiac defects
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6
Q

kallman syndrome

A

hypogonadotropic hypogonadism

males - micropenis and cryptorchidism

no secondary sex characteristics at puberty

female - don’t begin menstruating at puberty

loss sense of smell

cleft clip

bimanual synkinesis - hand movement mirroed

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7
Q

micropenis

A

21 and 11-beta hydroxy deficiency

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8
Q

congeintal hypopituitarism

A

genetic defect in transcription factors involved in differentiation of anterior pituitary

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9
Q

jaundice

A

GH deficiency in newborn

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