Growth Disorders Flashcards

1
Q

Pathological wt

A
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2
Q

Pathological wt

A
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3
Q

height that is 2 standard
deviations below the mean height for age and sex (less
than the third percentile) OR

More than 2 standard deviations below the mid-parental
height OR

A growth velocity disorder is defined as an abnormally
slow growth rate, which may manifest as height
deceleration across 2 major percentil3 lines on the growth
chart

A

Short stature

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4
Q

Midparental height

A
  • Male: Mothers height + 5 + Fathers height / 2

* Female: Fathers height – 5 + Mothers height / 2

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5
Q

Typical Constitutional Growth delay

A
  • Normal at birth
  • Then grows normally 4-6 months
  • Then growth accelaration
  • By 2-3 years = slows
  • Then grows at normal rate (but still short stature)
  • @ puberty: late puberty
  • but will later on, catch up normal (50th percentile)
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6
Q

1st sign: testicular enlargement

A

9-14 years old

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7
Q

1st sign: breast development

A

8-13 years old

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8
Q

thelarche to menarche

A

about 2 years

menstruation at 9 years, thelarche at 6 years, then precocious puberty

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9
Q

Birth ht

A

50 cm

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10
Q

1st year

A

GR: 25cm per year
Ht: 75cm

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11
Q

2nd year

A

GR: 12-15cm per year
Ht: 87-88cm

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12
Q

3rd year

A

GR: ½ ofd 2nd year (6-7
cm)
Ht: 94-95cm

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13
Q

After 3rd year

A

Growth rate: 5-6 cm per year

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14
Q

6th year

A

110 cm

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15
Q

FORMULA ht

A

Age in years x 5 + 80 = cm

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16
Q

FORMULA (weight):

A

age in months + 11 = lbs

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17
Q

full term infant wt

A

> /= 2.5 kilos

if less uterine growth retardation

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18
Q

1st wk wt

A

may decrease by 5-10% of BW

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19
Q

2nd wk BW

A

regain lost wt

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20
Q

expected wt gain thereafter

A

+30g per day (1 mo = 900g) or 1 lb/2 weeks

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21
Q

after 3 months of age

A

wt gain is expected to slow down = -1 lb/2wks

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22
Q

after 1 yr

A

2 kilos per yr

ex: @Y = 12 kiols; 3Y 14 etc.

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23
Q

HEAD CIRCUMFERENCE:

Age Growth = Rate

1st year of life = Increases by 12 cm
1st 4 months = 1.5 cm/month
2nd 4 months = 1.0 cm/month
3rd 4 months = 0.5 cm/month

2nd year of life = Increases by 2 cm

A

indication of cerebration or brain

development

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24
Q

Short stature (how to ID) 1st thing to recognize:

A

1st: normal or pathologic
normal: familial short stature or constitutional delay

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25
Q

Short stature (how to ID) if pathologic:

A

is it proportionate or disproportionate?

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26
Q

Short stature (how to ID) disproportionate

A

skeletal dysplasia

rickets

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27
Q

Short stature (how to ID) proportionate

A

prenatal or post

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28
Q

Short stature: Prenatal

A

IUGR (placental dses, infxns, teratogens)
Dysmorphic syndromes
Chromosomal dis

29
Q

Short stature: Postnatal

A
Endoc dis
Psychosocial dwarfism
Malnutrition
GI dses
Cardiopulmo dses
Chronic anemia
Renal dis
30
Q

FAMILIAL SHORT STATURE

A
  • Annual Growth Rate Normal
  • Height at or Below 3rd Percentile
  • No Systemic or Endocrine Disease
  • Pubertal Growth Spurt at Normal Age
  • Skeletal Age Equal to Chronological Age
  • Ancestors Relatively Short
31
Q

CONSTITUTIONAL DELAY IN GROWTH AND

PUBERTY: PHYSIOLOGICAL FEATURES

A

• Exeggerated “phase change” growth
deceleration
• Transient deficiencies in GH secretion,
particularly prior to puberty
• Severity of CDGP/ BA delay reflects duration of
periods of impared GH secretion
• Slowed tempo of growth à Ba delay à eventual
pubertal delay
• Prolonged school- age growth deceleration and
enhanced susceptibility to exogenous growth
suppression (e.g. ADHD meds, ICS)

32
Q

At conception, the change of transmitting the

phenotype from affected parent to affected child is

A

1 in 2

33
Q

• An unaffected individual not inheriting the

phenotype has

A

no risk of transmitting the
phenotype to his or her own children (except
with reduced penetrance or anticipation). In
other words, there is no carried state.

34
Q

height that is 2 standard
deviations below the mean height for age and sex (less
than the third percentile) OR

More than 2 standard deviations below the mid-parental
height OR

A growth velocity disorder is defined as an abnormally
slow growth rate, which may manifest as height
deceleration across 2 major percentil3 lines on the growth
chart

A

Short stature

35
Q

Midparental height

A
  • Male: Mothers height + 5 + Fathers height / 2

* Female: Fathers height – 5 + Mothers height / 2

36
Q

Typical Constitutional Growth delay

A
  • Normal at birth
  • Then grows normally 4-6 months
  • Then growth accelaration
  • By 2-3 years = slows
  • Then grows at normal rate (but still short stature)
  • @ puberty: late puberty
  • but will later on, catch up normal (50th percentile)
37
Q

1st sign: testicular enlargement

A

9-14 years old

38
Q

1st sign: breast development

A

8-13 years old

39
Q

thelarche to menarche

A

about 2 years

menstruation at 9 years, thelarche at 6 years, then precocious puberty

40
Q

Birth ht

A

50 cm

41
Q

1st year

A

GR: 25cm per year
Ht: 75cm

42
Q

2nd year

A

GR: 12-15cm per year
Ht: 87-88cm

43
Q

3rd year

A

GR: ½ ofd 2nd year (6-7
cm)
Ht: 94-95cm

44
Q

After 3rd year

A

Growth rate: 5-6 cm per year

45
Q

6th year

A

110 cm

46
Q

FORMULA ht

A

Age in years x 5 + 80 = cm

47
Q

FORMULA (weight):

A

age in months + 11 = lbs

48
Q

full term infant wt

A

> /= 2.5 kilos

if less uterine growth retardation

49
Q

1st wk wt

A

may decrease by 5-10% of BW

50
Q

2nd wk BW

A

regain lost wt

51
Q

expected wt gain thereafter

A

+30g per day (1 mo = 900g) or 1 lb/2 weeks

52
Q

after 3 months of age

A

wt gain is expected to slow down = -1 lb/2wks

53
Q

after 1 yr

A

2 kilos per yr

ex: @Y = 12 kiols; 3Y 14 etc.

54
Q

HEAD CIRCUMFERENCE:

Age Growth = Rate

1st year of life = Increases by 12 cm
1st 4 months = 1.5 cm/month
2nd 4 months = 1.0 cm/month
3rd 4 months = 0.5 cm/month

2nd year of life = Increases by 2 cm

A

indication of cerebration or brain

development

55
Q

Short stature (how to ID) 1st thing to recognize:

A

1st: normal or pathologic
normal: familial short stature or constitutional delay

56
Q

Short stature (how to ID) if pathologic:

A

is it proportionate or disproportionate?

57
Q

Short stature (how to ID) disproportionate

A

skeletal dysplasia

rickets

58
Q

Short stature (how to ID) proportionate

A

prenatal or post

59
Q

Short stature: Prenatal

A

IUGR (placental dses, infxns, teratogens)
Dysmorphic syndromes
Chromosomal dis

60
Q

Short stature: Postnatal

A
Endoc dis
Psychosocial dwarfism
Malnutrition
GI dses
Cardiopulmo dses
Chronic anemia
Renal dis
61
Q

FAMILIAL SHORT STATURE

A
  • Annual Growth Rate Normal
  • Height at or Below 3rd Percentile
  • No Systemic or Endocrine Disease
  • Pubertal Growth Spurt at Normal Age
  • Skeletal Age Equal to Chronological Age
  • Ancestors Relatively Short
62
Q

CONSTITUTIONAL DELAY IN GROWTH AND

PUBERTY: PHYSIOLOGICAL FEATURES

A

• Exeggerated “phase change” growth
deceleration
• Transient deficiencies in GH secretion,
particularly prior to puberty
• Severity of CDGP/ BA delay reflects duration of
periods of impared GH secretion
• Slowed tempo of growth à Ba delay à eventual
pubertal delay
• Prolonged school- age growth deceleration and
enhanced susceptibility to exogenous growth
suppression (e.g. ADHD meds, ICS)

63
Q

At conception, the change of transmitting the

phenotype from affected parent to affected child is

A

1 in 2

64
Q

• An unaffected individual not inheriting the

phenotype has

A

no risk of transmitting the
phenotype to his or her own children (except
with reduced penetrance or anticipation). In
other words, there is no carried state.

65
Q

Diagnosis of Turner syndrome should result in

comprehensive workup of all potential health issues

A
  • caridac eval
  • renal ultrasound
  • middle ear ex and hearing test
  • scolio/kyphosia
  • hip dislocation
  • assess linear growth
  • eval of ovarian fxn and pubertal dev
  • TFTs
  • screening for celiac dse
  • eye ex
  • orthodontic eval
  • educational/psychosocial eval
  • bone mineral density
  • LFTs, FBG, lipids, CBC, Cr. BUN
66
Q

DIFFERENTIAL DIAGNOSIS OF STATURAL OVERGROWTH

A

Fetal

Postnatal

67
Q

Fetal

A
• Maternal	diabetes	
mellitus
• Cerebral	gigantism
• Beckwith-Wiedemann	
syndrome
68
Q

Postnatal

A
• Familial	tall	stature
• Cerebral	gigantism
• Beckwith-Wiedemann	
syndrome
• Exogenous	obesity
• Excess	GH	secretion	
(pituitary gigantism)
• Precocious	Puberty
• Margen	syndrome
• Homocystinuria
• XYY
• Hyperthyroidism
• Androgen	or	estrogen	
deficiency:	estrogen	
resistance (increased
adult	stature)