1. SHORT STATURE
Prof.Dr. Oya Ercan

2. Failure of physical growth
an important sign of disease.
Differential diagnosis of the short child is wide.
Treatment effective only before the epiphyses fuse.

3. Short child: Any child whose height falls below the 3rd centile for his/her community.
The main reasons for differences in the mean heights of children in different populations are environmental

4. Measuring Stature
The head is held with the external auricular meatus and outer canthus of the eye in a horizontal plane.
Upward pressure is applied to the mastoid processes in order to encourage the child to stand up straight.

7. Expected or Target Height: Determined from the parents’ height centiles.
+12,6 cm to the mother’s height on a boy’s chart.
-12,6 cm from the father’s height on a girl’s chart.
Almost all (95%) normal children have a final height within 9 cm of the mid-parental centile.

8. Predicted height may be calculated from the present height, age and bone age.
If the predicted height falls more than 10cm below the expected height (mid-parental centile) growth is abnormal for the family.

9. The heights of the parents and the age at which they reached puberty.
The child’s weight and gestational age at birth and pattern of growth since then.
The appetite, energy and well-being of the child.
Any specific symptoms.
Social history (structure of the family, the quality of the relationships within it and the mother’s health and ability to cope)

10. General physical examination should include:
Observation of the child’s proportions
Standard of nutrition
The presence of any minor abnormality or abnormal facies
Routine examination of the urine

11. 1. Those who require further investigation immediately:
Height well below the 3rd centile,evidence of chronic ill health or, a growth velocity below the 25th centile over one year.
Those with genetic short stature:
Who are well, with heights near the 3rd centile, within the target or expected centile range, satisfactory growth velocity.
Make sure that the parent’s short statue is not the result of a pathology and that the child does not have a hereditary disorder affecting growth.
3. Those who are suffering as a result of social problems or deprivation.

13. Growth velocity is a more useful observation then actual height.
Because of seasonal variations in growth rate velocity must be assessed over a whole year.

14. FURTHER INVESTIGATION
Measurement of sitting as well as of standing height, assesment of fat and muscle development from mid-upper arm circumference and triceps skinfold thickness measurements, examination of the optic fundi and visual fields.

15. Radiographs of the skull and of the hand and wrist for bone age.
Chromosome analysis: Turner’s ?
Simple renal function tests: Urine culture, blood urea and creatinine.
Test of thyroid function, particularly thyroid stimulating hormone, free thyroxine.
Hb and blood folate estimations, malabsorption ?

16. Familial short stature – organic disorders identified
Various grades of GH insufficiency ?
Genetic delay ?

17. When GH insufficiency is considered possible:
Serum IGF-I (SM-C)
GH response to exercise 10 min.
A sleep GH level (in very young children) 30 min. after onset of sws
Provocative testing insulin, arginine, L-Dopa clonidine
24 hr or overnight GH profile 20 min.

18. CAUSES OF SHORT STATURE

19. Bone Disease : Predominantly affect limb bones or spine → disproportionate short stature. In some mild forms of bone disease (hypochondroplasia, epiphyseal dysplasias) may not be apparent.

20. SKELETAL DYSPLASIAS OF UNKNOWN PATHOGENESIS
Dysostoses: Malformations of individual bones, singly or in combination.
Osteochondrodysplasias: Abnormalities of cartilage and/or bone growth and development :They affect stature especially defects of growth of tubular bones or spine or both (a)

21. Other osteochondrodysplasias
Disorganized development of cartilage and fibrous component of the skeleton e.g. fibrous dysplasia and enchondromatoses
Abnormalities of density or of cortical diaphyseal structure and of metaphyseal modelling (e.g. osteogenesis imperfecta, osteopetrosis)

22. Osteochondrodysplasias(a)
Manifested at birth → achondroplasia Manifested in later life → hypochondroplasia Achondroplasia: Rhizomelic short limbs, autosomal dominant (80% new mutations) most common genetic skeletal dysplasia. Bone lengthening (chondrodiatasis)

23. DISEASES OF BONE WITH KNOWN PATHOGENESIS
Chromosomal aberrations
Primary metabolic abnormalities
Calcium and phosphorus metabolism
Mucopolysaccharidoses
Mucolipidosis – lipidosis
Bone abnormalities secondary to disturbance of extraskeletal system.

24. Syndromes
Any short child who has other abnormalities such as old facies, mental retardation or low birth weight.
Most chromosomal abnormalities lead to short stature.
Trisomies 21, 18, 13
Partial deletion of a chromosome cri-du-chat, 4p⁻, 13q⁻, 18p⁻, 18q⁻, 21q⁻ syndromes
Extra fragment of a chromosome e.g. the cat-eye syndrome

25. Some syndromes with severe short stature:
Aarskog’s syndrome, Bloom’s syndrome, Cockayne’s syndrome, Russell – Silver syndrome, Seckel’s syndrome ...etc. → no consistent chromosomal abnormalities.

26. Turner’s Syndrome Characteristically is associated with 45X
chromosomes.
Neonatal lymphoedema
Low posterior hairline
Webbed neck
Their pattern of growth shows a combination of
poor intrauterine growth, gradual decline in
velocity during childhood and an absence of
puberty growth spurt.

27. Diseases of a major organ or metabolism
Asthma
Renal disease
Congenital heart disease
Diabetes mellitus
Chronic anemia
Mental retardation

28. Nutritional Disorders
Kwashiorkor
Marasmus
Inadaquate intake: Renal disease, infections, pyschological disturbances such as anorexia nervosa and depressin
Chronic intestinal disease
Cystic fibrosis
Celiac disease

29. Growth retardation in undernutrition is a means of conserving nutrients for essential functions and keeping requirements to a minimum.
The finding of gross or multiple endocrine abnormalities in an undernourished patient must raise the possibility of organic hypothalamic disease with secondary malnutrition.

30. Low birthweight AGA → usually normal stature (premature)
SGA = Light–for-dates
short stature
Short stature:
1- Chromosomal disorders
2- Children who have been damaged in utero by some recognised environmental insult e.g. Rubella, alcohol, anticonvulsants etc. (Impaired growth potential at cellular level)
3- Placental dysfunction
4- Syndromes of unknown etiology of which low birth weight is a feature (multifactorial?)

31. Endocrine Diseases 1)Thyroid Deficiency:
GH response to stimulation tests may be clusterd →Hypothyroidism should be excluded before GH tests are done.
2)Corticosteroid Excess:
- Cushing’s syndrome
- High-dose steroids used over long periods of time (asthma, rhematoid arthritis)
- (Unhealthy skin) steroid creams
- Prolonged treatment with ACTH

32. 3)Growth hormone insufficiency
Complete deficiency: deletion of GH gene (very rare)
GH insufficiency (usually isolated or with other pituitary hormone deficiencies)
Multiple deficiencies: Craniopharyngioma ?
Neurosecretory dysfunction (physiological deficiency)
Inability to generate IGF (Laron dwarfism)
Defect in IGF receptors (African Pygmy)

33. Social Disorders
Emotional deprivation

34. GH insufficiency : 1/4000
NSD : 1/4000 ?
Thyroid deficiency : 1/3000 – 5000
Turner’s syndrome : 1/3000 ♀
Celiac disease : 1/2000
2-3 /1000 children have short stature caused by conditions for which specific treatment available and appropriate.

35. Genetic
Two groups of genes acquired from the parents affect the height of a child. 1- The group that determines the child’s final height 2- The group that determines the rate of maturation, the age of puberty and the age of cessation of growth

36. Familial short stature (genetic shortness)
Genetic delayed maturation
1+2 (small / delay)
some of them NSD or NVSS