Growth Disorders Flashcards
Pathological wt
Pathological wt
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
Short stature
Midparental height
- Male: Mothers height + 5 + Fathers height / 2
* Female: Fathers height – 5 + Mothers height / 2
Typical Constitutional Growth delay
- 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)
1st sign: testicular enlargement
9-14 years old
1st sign: breast development
8-13 years old
thelarche to menarche
about 2 years
menstruation at 9 years, thelarche at 6 years, then precocious puberty
Birth ht
50 cm
1st year
GR: 25cm per year
Ht: 75cm
2nd year
GR: 12-15cm per year
Ht: 87-88cm
3rd year
GR: ½ ofd 2nd year (6-7
cm)
Ht: 94-95cm
After 3rd year
Growth rate: 5-6 cm per year
6th year
110 cm
FORMULA ht
Age in years x 5 + 80 = cm
FORMULA (weight):
age in months + 11 = lbs
full term infant wt
> /= 2.5 kilos
if less uterine growth retardation
1st wk wt
may decrease by 5-10% of BW
2nd wk BW
regain lost wt
expected wt gain thereafter
+30g per day (1 mo = 900g) or 1 lb/2 weeks
after 3 months of age
wt gain is expected to slow down = -1 lb/2wks
after 1 yr
2 kilos per yr
ex: @Y = 12 kiols; 3Y 14 etc.
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
indication of cerebration or brain
development
Short stature (how to ID) 1st thing to recognize:
1st: normal or pathologic
normal: familial short stature or constitutional delay
Short stature (how to ID) if pathologic:
is it proportionate or disproportionate?
Short stature (how to ID) disproportionate
skeletal dysplasia
rickets
Short stature (how to ID) proportionate
prenatal or post
Short stature: Prenatal
IUGR (placental dses, infxns, teratogens)
Dysmorphic syndromes
Chromosomal dis
Short stature: Postnatal
Endoc dis Psychosocial dwarfism Malnutrition GI dses Cardiopulmo dses Chronic anemia Renal dis
FAMILIAL SHORT STATURE
- 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
CONSTITUTIONAL DELAY IN GROWTH AND
PUBERTY: PHYSIOLOGICAL FEATURES
• 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)
At conception, the change of transmitting the
phenotype from affected parent to affected child is
1 in 2
• An unaffected individual not inheriting the
phenotype has
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.
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
Short stature
Midparental height
- Male: Mothers height + 5 + Fathers height / 2
* Female: Fathers height – 5 + Mothers height / 2
Typical Constitutional Growth delay
- 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)
1st sign: testicular enlargement
9-14 years old
1st sign: breast development
8-13 years old
thelarche to menarche
about 2 years
menstruation at 9 years, thelarche at 6 years, then precocious puberty
Birth ht
50 cm
1st year
GR: 25cm per year
Ht: 75cm
2nd year
GR: 12-15cm per year
Ht: 87-88cm
3rd year
GR: ½ ofd 2nd year (6-7
cm)
Ht: 94-95cm
After 3rd year
Growth rate: 5-6 cm per year
6th year
110 cm
FORMULA ht
Age in years x 5 + 80 = cm
FORMULA (weight):
age in months + 11 = lbs
full term infant wt
> /= 2.5 kilos
if less uterine growth retardation
1st wk wt
may decrease by 5-10% of BW
2nd wk BW
regain lost wt
expected wt gain thereafter
+30g per day (1 mo = 900g) or 1 lb/2 weeks
after 3 months of age
wt gain is expected to slow down = -1 lb/2wks
after 1 yr
2 kilos per yr
ex: @Y = 12 kiols; 3Y 14 etc.
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
indication of cerebration or brain
development
Short stature (how to ID) 1st thing to recognize:
1st: normal or pathologic
normal: familial short stature or constitutional delay
Short stature (how to ID) if pathologic:
is it proportionate or disproportionate?
Short stature (how to ID) disproportionate
skeletal dysplasia
rickets
Short stature (how to ID) proportionate
prenatal or post
Short stature: Prenatal
IUGR (placental dses, infxns, teratogens)
Dysmorphic syndromes
Chromosomal dis
Short stature: Postnatal
Endoc dis Psychosocial dwarfism Malnutrition GI dses Cardiopulmo dses Chronic anemia Renal dis
FAMILIAL SHORT STATURE
- 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
CONSTITUTIONAL DELAY IN GROWTH AND
PUBERTY: PHYSIOLOGICAL FEATURES
• 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)
At conception, the change of transmitting the
phenotype from affected parent to affected child is
1 in 2
• An unaffected individual not inheriting the
phenotype has
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.
Diagnosis of Turner syndrome should result in
comprehensive workup of all potential health issues
- 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
DIFFERENTIAL DIAGNOSIS OF STATURAL OVERGROWTH
Fetal
Postnatal
Fetal
• Maternal diabetes mellitus • Cerebral gigantism • Beckwith-Wiedemann syndrome
Postnatal
• 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)