brandau's peds lecutre Flashcards
single umbilical a
rare condition
25% have other congenital defects
need to check abdomen and kidneys
Ddx fo hypoglycemia
premature IUGR infant of diabetic mom hypothermia perinatal asphyxia sepsis metabolic disorders hyperinsulinism primary and secondary adrenal insufficiency congenital hypopituitarism
genetic syndromes associated with micropenis
smith-lemli-opitz syndrome
kallman syndrome
prader-willi syndrome
smith-lemli-opitz syndrome
microcephaly, low set ears, micrognathia
cryptoorchism, micropenis, hypoplastic scrotum
cardiac defects
kallmann syndrome
form of hypogonadotrophic hypogonadism (HH) - defect in production of sex hormones
do not develop secondary sex characteristics or mentrate
loss of sense of smell
other features of kallmann
cleft lip or palate unilateral renal agenesis abnormal eye movements abnormal teeth bimanual synkinesis- mvmt of one hand mirrored by the other
prader-willi
most common form of syndromic obesity
hypotonia, failure to thrive, feeding difficulties, hypogonadism, developlemental delays
at 2 hyperpagia and obesity with GH deficieny
major criteria for Dx of PWS
neonatal central hypotonia infantie feeding issues rapid weight gain from 1-6 characteristic facial features hypogonadism mental retardation developmental dealy decreaed fetal mvmt infantile lethargy
minor criteria
behavioral problems sleep disturbances short hypopigmentation small hands/feet eye abnormalities thick viscous saliva speech and articulation defect skin prickling
endocrine causes of micropenis
hypogonadotrophic hypogonadism d/t pituitary and hypthalamic lesions
primary testicular failure
21alpha and 11beta hydroxylase deficiencies
GH deficient newborn
has little effect on fetal growth which is more dependent on insulin, IGF1 and 2
GH deficient newborn may have hypoglycemia and jaundice
LH and FSH deficient newborn
micropenis
testicular hypoplasia
undescended testes
ACTH deficient newborn
cortisol deficiency -> hypoglycemia
no effect on aldosterone
TSH deficient newborn
large fontanelle lethargy constipation hoarse cry hyponatremia hypothermia jaundice
