PEDs Exam Two Study
Guide / 150 Questions &
Certified Answers.
Question Answer
Infant Screening PKU (mandatory in all states)
Autosomal recessive; deficient phenylalanine hydroxylase
Phenylketonuria (PKU) (used to convert phyenylalanine to tyrosine); no conversion =
toxic -> CNS damage -> retardation
s/s may not be seen until 3mos; GI probs, V 1st, musty or
mousy odor to urine, infantile eczema,
PKU - s/s
hypertonia/hyperactive behavior, hypopigmentation (blond
hair, blue eyes)
screening, before 3rd day of life may give false negative,
PKU - Dx positive result needs further testing; serum phenylalanine
levels >10mg/dL
early tx; lifelong dietary restriction; keep serum
phenylalanine 2-6mL/dL <12yrs; 2-15mL/dL >13yrs; d/c diet
PKU - management can show dec mental functions; pregnant = strict diet to
avoid mental deficiency, microcephaly, retarded growth,
seizures, structural defects
, skin mottling; large fontanel; large tongue; hypotonia
Congenital hypothyroidism
(tongue protruding); slow reflexes; distended ABD;
- manifestations NEONATAL
constipation
Congenital hypothyroidism prolonged jaundice; constipation; feeding problems; cool
- manifestations EARLY skin; umbilical hernia; hoarse cry; excessive sleeping; large
INFANCY tongue; respiratory problems
s/s usually appear p 6wks; facial features (depressed nasal
bridge, short forehead, puffy eyelids, large tongue); coarse,
Congenital hypothyroidism
dry, lusterless hair; ABD distention, umbilical hernia;
- untreated
hyporeflexia; delayed neurologic development -> mental
retardation
lifelong thyroid hormone replacement; synthroid; bone age
Congenital hypothyroidism
surveys to monitor optimum growth; normal growth et
- tx
intelligence if tx begun shortly p birth
secreted @ night; assoc c underlying causes such as brain
Growth Hormone
tumors, pituitary gland malformations; may present as
deficiency (Part 1)
hypoglycemia
Growth Hormone growth normal 1st yr -> slowed curve below 3rd percentile;
deficiency (Part 2) skeletal proportions normal; appear younger
ht <5th percentile; restricted growth rate; ht may be more
slowed than wt if nutrition good -> obesity; immature
Growth Hormone
(cherubic) faces; delayed puberty; hypoglycemia; diminished
deficiency - Manifestations
muscle mass; inc fat; micropenis; delay perm teeth; norm
intelligence (precocious)
Growth Hormone fam hx; child's growth hx, other health hx; physical exam;
deficiency - Dx bone growth studies; endocrine studies
, synthetic growth hormone subq 6-7x/wk; stopped when
Growth Hormone growth plates fuse or when acceptable adult ht reached, give
deficiency - Management @ night; inc growth potential r/t earlier tx; given to children
c short stature s GHD no major inc growth
Early onset of puberty (before 8yrs in girls; before 9yrs in
boys); can occur in infancy or early childhood; premature
Precocious puberty appearance of secondary sex characteristics; accelerated
bone growth -> early growth plate fusion -> short stature in
adulthood
secondary sex characteristics; acne; growth spurt in females;
Precocious puberty -
adult body odor; menses in girls; deepening of voice in boys;
manifestations
moodiness
luteinizing hormone - releasing hormone, IM once q 4wks,
Precocious puberty -
d/c @ chronologically appropriate time when puberty
management
desired
treat according to chronological age, not appearance;
Precocious puberty - children often teased; emotional stress; inc risk of child
special considerations abuse; children are fertile (oral contraceptives will initiate
epiphyseal closure)
group of disorders characterized by deficiency of enzyme
needed to make cortisol; inability of adrenal gland to make
Congenital adrenal
adequate glucocorticoid -> excess androgen production;
hypoplasia (CAH)
autosomal recessive; cortisol needed for maintenance of BS,
fluid/lytes, hormones
Complete (Salt-Losing) CAH insufficient amts of aldosterone, cortisol; EMERGENCY (FTT
WEAKNESS, V, DEHYDRATION IF NO TX @ BIRTH);
aldosterone replacement, supplement dietary salt; frequent
Guide / 150 Questions &
Certified Answers.
Question Answer
Infant Screening PKU (mandatory in all states)
Autosomal recessive; deficient phenylalanine hydroxylase
Phenylketonuria (PKU) (used to convert phyenylalanine to tyrosine); no conversion =
toxic -> CNS damage -> retardation
s/s may not be seen until 3mos; GI probs, V 1st, musty or
mousy odor to urine, infantile eczema,
PKU - s/s
hypertonia/hyperactive behavior, hypopigmentation (blond
hair, blue eyes)
screening, before 3rd day of life may give false negative,
PKU - Dx positive result needs further testing; serum phenylalanine
levels >10mg/dL
early tx; lifelong dietary restriction; keep serum
phenylalanine 2-6mL/dL <12yrs; 2-15mL/dL >13yrs; d/c diet
PKU - management can show dec mental functions; pregnant = strict diet to
avoid mental deficiency, microcephaly, retarded growth,
seizures, structural defects
, skin mottling; large fontanel; large tongue; hypotonia
Congenital hypothyroidism
(tongue protruding); slow reflexes; distended ABD;
- manifestations NEONATAL
constipation
Congenital hypothyroidism prolonged jaundice; constipation; feeding problems; cool
- manifestations EARLY skin; umbilical hernia; hoarse cry; excessive sleeping; large
INFANCY tongue; respiratory problems
s/s usually appear p 6wks; facial features (depressed nasal
bridge, short forehead, puffy eyelids, large tongue); coarse,
Congenital hypothyroidism
dry, lusterless hair; ABD distention, umbilical hernia;
- untreated
hyporeflexia; delayed neurologic development -> mental
retardation
lifelong thyroid hormone replacement; synthroid; bone age
Congenital hypothyroidism
surveys to monitor optimum growth; normal growth et
- tx
intelligence if tx begun shortly p birth
secreted @ night; assoc c underlying causes such as brain
Growth Hormone
tumors, pituitary gland malformations; may present as
deficiency (Part 1)
hypoglycemia
Growth Hormone growth normal 1st yr -> slowed curve below 3rd percentile;
deficiency (Part 2) skeletal proportions normal; appear younger
ht <5th percentile; restricted growth rate; ht may be more
slowed than wt if nutrition good -> obesity; immature
Growth Hormone
(cherubic) faces; delayed puberty; hypoglycemia; diminished
deficiency - Manifestations
muscle mass; inc fat; micropenis; delay perm teeth; norm
intelligence (precocious)
Growth Hormone fam hx; child's growth hx, other health hx; physical exam;
deficiency - Dx bone growth studies; endocrine studies
, synthetic growth hormone subq 6-7x/wk; stopped when
Growth Hormone growth plates fuse or when acceptable adult ht reached, give
deficiency - Management @ night; inc growth potential r/t earlier tx; given to children
c short stature s GHD no major inc growth
Early onset of puberty (before 8yrs in girls; before 9yrs in
boys); can occur in infancy or early childhood; premature
Precocious puberty appearance of secondary sex characteristics; accelerated
bone growth -> early growth plate fusion -> short stature in
adulthood
secondary sex characteristics; acne; growth spurt in females;
Precocious puberty -
adult body odor; menses in girls; deepening of voice in boys;
manifestations
moodiness
luteinizing hormone - releasing hormone, IM once q 4wks,
Precocious puberty -
d/c @ chronologically appropriate time when puberty
management
desired
treat according to chronological age, not appearance;
Precocious puberty - children often teased; emotional stress; inc risk of child
special considerations abuse; children are fertile (oral contraceptives will initiate
epiphyseal closure)
group of disorders characterized by deficiency of enzyme
needed to make cortisol; inability of adrenal gland to make
Congenital adrenal
adequate glucocorticoid -> excess androgen production;
hypoplasia (CAH)
autosomal recessive; cortisol needed for maintenance of BS,
fluid/lytes, hormones
Complete (Salt-Losing) CAH insufficient amts of aldosterone, cortisol; EMERGENCY (FTT
WEAKNESS, V, DEHYDRATION IF NO TX @ BIRTH);
aldosterone replacement, supplement dietary salt; frequent
