- 1. Growth disordersByKhaled Hamed ShalabyAss. lecturer of
Internal MedicineFaculty of MedicineTanta University
2. By Khaled Hamed Shalaby 3. SHORT STATURETALL STATURE 4.
1-Approach to shortstature 5. Objectives Introduction. Evaluation
.Management. GH deficiency. 6. GeneticNormal
GrowthNutritionalEnvironmentalEndocrine Metabolic 7. Short stature
/Growth failure height below 3rd percentile (-2SD for ageand
gender) height significantly below genetic potentials(-2SD below
mid-parental target) abnormally slow growth velocity downwardly
crossing percentile channels ongrowth chart (> 18 months age) 8.
NORMAL GROWTH VELOCITY- prenatal growth : 1.2 -1.5 cm / week-
infancy : 23 - 28 cm / year- childhood : 5 - 6.5 cm / year- puberty
: 8.3 cm / year (girls), 9.5 cm / year (boys) 9. EvaluationIs Is
child short ?child short ?velocity impairedAny dysmorphic features
ordisproportionate ? 10. Is child short ? Plotted on an appropriate
growth chart. Length is measured lying down andshould be used for
infants and children upto 24 months of age . Height is measured
standing and shouldbe used for children 2 years and above. 11.
velocity impaired? Accurate height measurements performed at
6-monthintervals and plotted to the year and month of age onthe
growth curve If the growth velocity is subnormal (below the
25thpercentile for age) without alternative
physiologicalexplanations, the child should be
thoroughlyinvestigated 12. velocity impaired? 13. causesFamilial
short statureConstitutional growth delaySmall for gestational
ageGenetic syndromesDown syndrome, Turner syndromePrader-Willi
syndromeSkeletal dysplasiaAchondroplasia,
hypochondroplasiaNonorganic aetiologies psychosocial deprivation
14. Causes cont.Systemic diseasesInfectiousHIV, tuberculosisCardiac
diseaseRenal diseaseRenal tubular acidosisChronic renal
insufficiencyGastrointestinalMalabsorption ,celiac diseasecystic
fibrosisInflammatory bowel diseaseChronic lung disease, bronchial
asthmaMalignancyCentral nervous system disease 15. Causes
cont.EndocrinopathiesHypothyroidismHypopituitarismIsolated GH
deficiencyInsensitivity (Laron syndrome)Glucocorticoid
excessCushing syndrome, exogenous steroidsprecocious
pubertypseudohypoparathyroidism )Albright hereditary osteodystrophy
(AHO)(Pseudopseudohypoparathyroidism 16. Initial screening
evaluation of growth failure General tests - CBC with
differentials, renal profile, liver function test, ESR,Urinalysis,
serum ca ,ph, TTG chromosomal analysis in every short girl
Endocrine tests - thyroid function tests - growth factors: IGF-1,
IGFBP-3 - growth hormone stimulation tests if growth hormone
deficiency isstrongly suspected. Imaging studies - bone age :
anteroposterior radiograph of left hand and wrist - CT / MRI brain
( if hypopituitarism is suspected) Other investigations depends on
clinical suspicion - blood gas analysis - radiograph of the spine
17. BONE AGE X ray left hand wrist to tips of fingers TW3 (Tanner
Whitehouse) GP( Greulich-Pyle )ATLAS GILSANZ and RATIB WHY BONE AGE
?Skeletal maturityCorrelates closely with SMR(sexual maturity
rating)predict for remaining growth potentialHelps in adult height
prediction 18. Greulich & Pyle Atlas 19. Familial short stature
One of the MC cause of short stature Ht 13 years in girls and
>14 years in boys 40. Complications increased intracranial
pressure. SCFE. Impaired GTT. joint pain, muscle pain. carpal
tunnel syndrome. Pancreatitis. Scoliosis. Increased risk of
recurrence of neoplasim 41. Tall StatureHeight greater than two
standard deviations abovethe mean for a population same sex, age,
and race. Height > 2 SD 42. Etiology Genetic Familial tall
stature Familial rapid maturation( constitutional tall stature)
Hormonal GH excess Hyperthyroid Androgen/estrogen excess
SyndromesWeaver, Sotos, Marfan, Kleinefelter Metabolic disorders
43. Familial or genetic tall stature most common cause of tall
stature. These children are usually tall from early childhoodand
have tall parents. Genetically tall children have a high normal
growthrate, normal results from physical examination, and abone age
that is compatible with chronologic age. Comparing the growth of
the patient and the parentson a growth chart reveals that the tall
stature isappropriate for that family. 44. Constitutional tall
stature. Is the second most common cause of tall stature. They have
a normal length at birth. The growth velocityaccelerates in early
childhood, and the tall stature is usuallyevident by the age of 3
to 4 years Growth velocity slowsdown after the child reaches 4 or 5
years; thereafter thegrowth curve is parallel to and above the
normal curve. slightly or moderately advanced bone age. Puberty
usually develops in the early range of normal, andfinal adult
height is in the upper range of normal. There is usually a family
history of a similar growth pattern 45. Precocious puberty.
Acceleration of linear growth invariably occurssimultaneously with
signs of premature sexualdevelopment or inappropriate virilization.
Osseous maturation(BA) that is greater than expectedfor the
chronologic age. The ultimate height is less than it would have
beenotherwise due to early epiphyseal closure. 46. Pituitary growth
hormone excess. Growth hormone-producing or null cell adenoma ofthe
pituitary gland Before the epiphyses close. Bone age is often
advanced. 47. Marfan's syndrome. Autosomal dominant trait.
Arachnodactyly, tall stature, superior lens subluxationor
dislocation, and aortic or mitral regurgitation. The arm span is
greater than height, and the Upper to lower body segment ratio is
diminished joint hyperextension, Inguinal or femoral hernia, pectus
excavatum, scoliosis,megalocornea, and myopia." Retinal detachment
Aortic aneurysm and rupture 48. Homocystinuna. Autosomal recessive
disorder caused by a deficiency ofcystathionine P-synthase with
resultant excretion oflarge amounts of homocystine in urine
Phenotypic appearance similar to those with Marfan'ssyndrome Mental
retardation, malar flush, Inferior lens subluxation or dislocation,
Increased incidence of seizures, Arterial and venous thrombosis,
osteoporosis,vertebral collapse 49. Weaver syndrome. Accelerated
linear growth, advanced bone age,Campylodactyly , mild mental
retardation. small jaw, widely separated eyes, large and
dysplasticears, broad forehead, long philtrum, megacephaly.
strabismus, depressed nasal bridge, and flat occiput. 50.
Klinefelter's syndrome. abnormal karyotype is 47 XXY. Affected
children are tall and have eunuchoid proportionswith a long arm
span and legs and a decreased upper tolower body segment ratio.
Genital abnormalities, such as hypogonadism,cryptorchidism, and a
small phallus, are sometimespresent. Gynecomastia is common during
adolescence. Mental retardation and behavioural difficulties,such
as excessive shyness, aggressiveness, and antisocialbehaviour, are
often present. 51. Diagnostic imaging studies and laboratory tests
helpfulfor evaluating a child with tall statureSUSPECTED DIAGNOSIS
SUGGESTED TESTSSerum FSH-LH, estradiol or testosterone;skull x-ray,
or MRITrue precocious pubertySerum estradiol or testosterone;
abdominalultrasonography or CTOvarian or adrenal tumourSerum
electrolytes; plasma 1 7-hydroxyprogesterone; urinary
pregnanetriol;dexamethasone suppression testCongenital
adrenalhyperplasiaPituitary growth hormoneexcessCerebral gigantism
Skull x-ray, CT, or MRI; electroencephalographyKlinefelter's
syndrome Chromosome studySerum growth hormone or somatomedin C;
skull x-ray,CT, or MRIPlasma cystine, homocystine, and
methionine;urinary homocystineHomocystinuriaHypogonadal syndromes
Serum FSH, LH, estradiol or testosterone
