Peds Brandau Flashcards
hypotonia, feeding difficulty, hypogonadism, hyperphagia and obesity after age 2, short stature, small hands
prader willi syndrome
lab eval of hypoglycemia
pelvic and renal US - looking for testes in abdomen or for uterine canal or renal malformation
hormone panel - pituitary fxn
fetal growth
caused by insulin - not GH
born with single umbilical artery
should have screening US for abdomen and kidney
smith lemli opitz syndrome
microcephaly low set ears micrognathia genital abnormalities micropenis cardiac defects
kallman syndrome
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
micropenis
21 and 11-beta hydroxy deficiency
congeintal hypopituitarism
genetic defect in transcription factors involved in differentiation of anterior pituitary
jaundice
GH deficiency in newborn