Abnormal growth of the pediatric patient

Question 1

definition: auxology

Answer 1

comparison of growth pattern with established norms
changes in height-weight-head circumference
genetic potential
normal vs pathological deviation

Question 2

definition: failure to thrive

Answer 2

weight under 2nd percentile for age and sex AND decreased velocity of weight gain but not length

Question 3

what is the underlying cause of failure to thrive?

Answer 3

insufficient nutrition

Question 4

wasting

Answer 4

weight lags behind length

Question 5

stunting

Answer 5

weight drops first
length decreases later
head circumference decreases last

Question 6

what is the most common cause for large-for-gestational age infants?

Answer 6

maternal DM

Question 7

what are the three most common childhood overgrowth conditions?

Answer 7

maternal DM
cerebral gigantism (Sotos syndrome)
beckwith-wiedemann syndrome

Question 8

what are the features of precocious puberty?

Answer 8

advanced bone age
early epiphyseal closure
tall child but short as adult

Question 9

what is the most reliable measurement for growth hormone excess?

Answer 9

IGFBP-3

Question 10

what is the cause of primary adrenal insufficiency?

Answer 10

mutation of ACTH receptor

Question 11

what are the ACTH, cortisol, and adrenal androgen levels in familial glucocorticoid deficiency?

Answer 11

high ACTH and low cortisol

excessive adrenal androgens

Question 12

what are the clinical features of patients with familial glucocorticoid deficiency?

Answer 12

hypoglycemia
seizures
hyperpigmentation

Question 13

what is the most common monogenic cause of human obesity?

Answer 13

melanocortin-4 receptor (MC4R) mutation

Question 14

what is the most common genetic makeup for klinefelter syndrome?

Answer 14

47 XXY

Question 15

• problems with motor and language development
• large teeth, tremor, incoordination
• ADHD and autism

Answer 15

47 XYY syndrome

Question 16

marfanoid features
lens subluxation downward
intellecutal disability
risk for thrombotic events

Answer 16

homocystinuria

Question 17

dysregulated GH 
precocious puberty 
cafe au lait spots 
lisch nodules 
neurofibromas 
optic gliomas

Answer 17

von recklinghausen disease (NF1)

Question 18

partial or complete absence of X chromosome

Answer 18

Turner syndrome