Evaluation of Worrisome Growth Flashcards
Why do we care about growth
- poor growth can be first/only sign of underlying health problem
- consequences of delayed/missed diagnoses include potential permanent height deficits
AAP 2000 Recommendations
- Measure height/weight at least at birth, 2-4 days, 1, 2, 4, 6, 9, 12, 15, 18, 24 months, and every year after through age 21
- Plot on growth charts
which growth chart for ages 2-20 years old
CDC Growth Chart
What chart do you use for 0-3 years
WHO growth chart
difference between WHO and CDC growth chart
- WHO = international
- based on children who are primarily breastfed
- WHO has steeper weight gain in first few years but that drops off to be leaner than CDC
Short Stature
-2 SD (3% = 1.9) based on age/gender
OR
> 2 SD below midparental target height
Dwarfism
height below -3 SD for age
Midget
dwarf with normal body proportions
Growth concern
abnormally slow linear growth velocity or dropping across 2 major centile lines on growth chart
difference between short stature adn growth velocity
abnormal growth velocity when line crosses 2 major centiles vs short stature is consistently low growth points (nl growth velocity)
Men are on average how much taller than women
5”
Genetic potential for boys
[Mom’s height+ 5in + Father’s height]/2
acceptable range for genetic potential
+/- 3”
Genetic potential for girls
[Dad’s height - 5in + Mom’s height]/2
Bone Age
there is direct correlation between degree of skeletal maturation and time of epiphyseal closure
- greater bone age delay, longer the time before epiphyseal fusion ceases growth
- height predictions can be made using child’s height and bone age
are growth predictions using bone age accurate in children with growth disorders
NO
why might growth predictions with bone age be inaccurate
- can’t predict pubertal tempo
- growth disorder
how can we use bone age
- help in differentiating causes of short stature
- may just have delayed bone age but still potential for nl height (hormone deficiency–potential to reach nl height if adequate treatment)
- some disorders where bone age may not be delayed but just a bit, but height projection still lower than target–usually from skeletal dysplasias (Turner’s syndrome, Newman’s syndrome) — don’t have potential to reach nl potential
Body Proportions
Upper to lower body ratio starts at 1.7 at birth and falls to 1.0 by 10
- arm span shorter than height in boys before 10-11 years and girls before 10-14 after which arm span exceeds height
avg adult male has arm span of 5.2cm >ht and girls 1.2cm >ht
Nl causes of short stature/abnormal growth
- Constitutional short stature
- Familial short stature
Constitutional short stature
- growth deceleration during first 2 years of life (weight and height) followed by nl growth paralleling lower percentile curve throughout prepubertal years
- skeletal maturation delayed
- catch- upgrowth achieved by late puberty adn delayed fusion of growth plates
- generally end up along lower end of nl height range
- polygenic trait; positive family in 60-80% pts
- Genetic defects causing CGD unclear
is constitutional growth delay common
YES
treatment for constitutional growth delay
reassurance of nl growth pattern
- can treat bosy with testosterone if bone age greater or equal to 11.5 years to avoid compromising nl height
- can give girls estrogen (not as common)
are ppl with constitutional growth delay or familial short stature born small
no for both
Familial short stature
children who have nl growth velocity and height that are within nl limits for parent’s heights
- initially decrease in growth rate between 6-18 months
- some families with short stature may have tubular bone alterations (brachydactyly syndromes, SHOX haploinsufficiencies)
when will kids with constitutional growth delay fall of in growth
in 1st 2 years
SHOX
gene on short arm of X and Y; important for height; can be mutated in short stature
does Constitutional Growth Delay affect height, weight, or both?
both
Does familial short stature affect height, weight, or both?
weight generally not affected
Causes of failure to thrive
psychosocial and poor nutrition
- may look like constitutional growth delay
Nutritional Growth Retardation
linear grwoth stunting from poor weight gain in children over 2 years
- may be secondary to systemic illness such as celiac, IBD
- Stimulant meds
- sometimes hard to distinguish from constitutional growth delay and constitutional thinness
Children Born Small for Gestational Age
defined as less than -2SD for birth weight or length
causes of children born small for gestational age
- maternal: infection, nutritional deficiencies, uterine abnormalities, smoking, alcohol, drugs
- Placental: previa, abruption, structural, multiple gestation
- Fetal: chromosomal abnormalities, metabolic, infections, malformations
Will children born small for gestational age catch up
Most healthy infants born SGA achieve catch-up height by 2 years old –most in first 6 months
- 10-15% remain short as adults
- final height may also be compromised by early or rapid puberty
pathophys of SGA
not sure but perhaps fetal response to prolonged nutritional deficiencies late in gestation may be prematurely reset to a slow growth rate with a degree of resistance to GH, IGF-1, and insulin
Treatment in SGA
approved in 2001, GH approved for SGA children who have failed to catch-up by 2 years
- average increase in final height 3 inches after years of treatment–may not have big height improvement
do hormonal causes of worrisome growth affect weight
generally weight is spared– chubby or weight nl for height
ormonal causes of worrisome growth
hypothyroidism
growth hormone/IGF-1 abnormalities
Cushing syndrome (usually see if on oral/inhaled steroids not endogenous)
Rickets
Hypothyroidism in children
generally acquired hypothyroidism
- many clinical features from adults lacking in children
labs for primary vs central hypothyroidism
- primary– low T4, high TSH
- central hypothyroidism- low/nl TSH, low T4
Growth Hormone
from anterior pituitary; main function to promote linear growth in children
-also affects body composition-increases lean body mass and decreases fat
Growth Hormone Deficienc
absent or inadequate production of GH
- continuum – range of GH levels seen
- may be associated with deficiencies in other pituitary hormones or isolated
Congenital GHD
- hypothalamic pituitary malformations
- Holoprosencephaly (forebrain doesn’t divide), Schizencephaly (abn clefts in brain)
- Isolated cleft lip or palate
- septo-optic dysplasia- 50% have hypopituitarism (–born with abnormalities with septum pellucida with optic abnormalities)
- Optic nerve hypoplasia (alone)
- Empty sella syndrome (pit there but flattened against sella–often post pit up in hypopthalamus –empty sella and ectopic post pituitary–can have nl pituitary fxn or GH deficiency
Acquired GH deficiency
- Trauma
- CNS infection
- CNS tumors- craniopharyngioma, germinoma
- Cranial irradiation after other brain tumors
Diagnose GHD
abnormal growth velocity with exclusions of other causes
how to evaluate babiestoddlers for short stature
harder since can be nl or abnormal for babies to cross percentiles
- look at degree of falloff, parents, etc
Other sxs of GHD
- decreased muscle build
- increased subcutaneous fat, esp around trunk
- face immature for age
- prominent forhead, depressed midface (facial bones won’t grow nl but head will)
- other midline facial defects
- in males, small phallus
- may have history of prolonged jaundice or hypoglycemia newborn pd
GHD eval
bone age
IGF-1 (IGFBP-3-specific but not sensitive so if low will help– in infants since IGF-1 low in infants; also affected by nutrition and will be low in really skinny kid)
-NOT GH since it is pulsatile)
- Stimulation testing (never draw random GH level)- clonidine, arginine, glucagon, L-dopa
Do you ever check GH levels
NO! pulsatile secretion
Stimulation test
use clonidine or arginine usually to see if you can stimulate GH
Syndromic Short Stature
skeletal dysplasias and other genetic syndromes
- Turner syndrome
- Prader-Willi syndrome
- Noonan syndrome
Turner syndrome
- Haploinsufficiency of SHOX genes
- gene important for growth
- most common sex chromosome abnormality in female
- complete or partial absence of 1 of X chromosomes
Prader-Willi syndrome
- GH deficient plus lots of other things
Noonan syndrome
- similar to Turner’s but can affect males and females abnormal GH post-receptor signalling
Turner Syndrome phenotype
virtually all short; final height about 20 cm shorter than they would have been if untreated
- sk/growth abnormalities
- growth pattern– initial drop off
- short stature, increased carrying angle, short neck, micro or retrognathia (chin)
- lymphatic obstruction from fetal life– webbed neck, lymphedema, low hairline/trident
- moles
- Cardiac abnormalities- bicuspid, coarctation
- renal-horseshoe kidney, ovarian insufficiency, hypothyroidism/celiac, otitis media, hearing loss, nonverbal learning disability
- *GONADAL Dysgenesis– need hormone replacement
what is the height projection in ekeletal dysplasias
shorter than projected
Treatment for Turner’s syndrome
- GH can improve growth/final height even though not generally GH deficient
- start treatment early important to offer best potential for growth
Eval of worrisome growth
- Bone age (L hand/wrist to look for growth potential and can help with diagnosis)
- metabolic panel/phosphorus–RTA/rickets
-CBC - anemia (chronic dz, skeletal dysplasia) - TSH &T4
-IGF-1 or IGFBP-3
-Karyotype in girls -Turner - TTG and IgA for celiac
-ESR- IBD
-
Hx GH
- GHfrom beef and made other animals grow but not humans
- used it from cadavers but needed a LOT since only 1 days worth in 1 pituitary
Limitations to cadaver GH
- 1 human pit gland to produce enough for 1 day for 1 person
- some pts develop Ab to GH
- found to be associated with Creutzfeld-Jacob disease–slow viral infeciton of CNS
when was recombinant GH available
1985
FDA approved uses of GH
GHD, Chronic renal insufficiency, adults with GHD, Turner syndrome, Prader Willi, Small for gestational age, idiopathic short stature (conroversial), SHOX deficiency, Noonan syndrome
Ethical Issues of GH
- GHD clinical diagnosis since test not perfect
- deficient response seen without endocrine disease
- variability in assays
- intraindividual variability from day to day
- definition of nl response arbitrary
- WHo to treat (according to FDA approval, if fam wants to pay, developmentally delayed children, who makes decisions)
- How Long (until final height reached, until genetic potential, nl height but what is that?, until height no longer disability
- very expensive–who pays
Cost of GH
mean cost of $20,000/year; $35,000 per inch of height
failure to thrive
deceleration in wt gain to below 3% or fall in wt across 2 or more percentiles
