Short stature, growth hormone deficiency, Turner and Klinefelter syndromes, precocious and delayed puberty, congenital hypothyroidism, and neonatal hypoglycemia.
35 cards · basic cards · AI-written, checked twice. Edit anything.
- What defines short stature in pediatric growth assessment?
Show answer
Height more than 2 standard deviations below the mean for age and sex (below the 3rd percentile).- What is the mid-parental height formula for estimating a boy's target adult height?
Show answer
(Father's height + mother's height + 13 cm) / 2.- What does a bone age X-ray (usually of the left hand and wrist) assess in a short child?
Show answer
Skeletal maturity, compared with chronological age to help distinguish causes of short stature.- In familial (genetic) short stature, how do growth velocity and bone age typically compare to chronological age?
Show answer
Growth velocity is normal and bone age matches chronological age; the child is simply genetically short.- In growth hormone deficiency, what is the classic growth pattern?
Show answer
Normal length and weight at birth, followed by progressive growth deceleration (falling off the growth curve) during infancy or childhood.- What neonatal findings should raise suspicion for congenital growth hormone deficiency in a male infant?
Show answer
Micropenis and hypoglycemia.- What congenital brain malformation is classically associated with growth hormone deficiency?
Show answer
Septo-optic dysplasia (absent septum pellucidum, optic nerve hypoplasia, and pituitary hypoplasia).- How is growth hormone deficiency diagnosed?
Show answer
Growth hormone stimulation (provocative) testing with two different pharmacologic agents, showing failure of GH to rise above a defined threshold.- What is the standard treatment for growth hormone deficiency?
Show answer
Daily subcutaneous injections of recombinant human growth hormone.- What karyotype is characteristic of Turner syndrome?
Show answer
45,X (or a mosaic pattern such as 45,X/46,XX).- What classic physical exam findings are seen in Turner syndrome?
Show answer
Webbed neck, shield (broad) chest, and widely spaced nipples.- What finding is often present at birth in infants with Turner syndrome?
Show answer
Lymphedema of the hands and feet.- What cardiac anomalies are most commonly associated with Turner syndrome?
Show answer
Bicuspid aortic valve and coarctation of the aorta.- What gonadal abnormality is typical of Turner syndrome?
Show answer
Streak ovaries, leading to primary ovarian failure and lack of spontaneous puberty.- What karyotype is characteristic of Klinefelter syndrome?
Show answer
47,XXY.
FlashKeepers