Approximately 3% of children are short, with half being physiologically short due to familial or constitutional factors, and half being pathologically short. Common causes of pathological short stature include genetic disorders, chronic illnesses, malnutrition, and endocrine disorders such as growth hormone deficiency or hypothyroidism. A thorough evaluation includes medical history, physical examination, assessment of growth parameters, bone age, and laboratory tests to identify the underlying cause.

2. Height below 3 rd centile or less than 2 standard deviations below the median height for that age & sex according to the population standard OR Even if the height is within the normal percentiles but growth velocity is consistently below 25 th percentile over 6-12 months of observation The term ‘Dwarfism’ is no longer used for short stature Essential Pediatrics, 7 th Edition, OP Ghai; Fima Lifschitz- Pediatric Endocrinology

3. Approximately 3% children in any population will be short Approximately half will be physiological ( familial or constitutional ) & half will be pathological short stature

4. Proportionate Short Stature 1) Normal Variants: i) Familial ii) Constitutional Growth Delay 2) Prenatal Causes: i) Intra-uterine Growth Restriction- Placental causes, Infections, Teratogens ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders)

5. 3) Postnatal Causes: i) Undernutrition ii) Chronic Systemic Illness - Cardiopulmonary: CHD, Chronic Asthma, Cystic Fibrosis - Renal: RTA, CRF, Steroid dependent Nephrotic Syndrome - GI and Hepatic: Malabsorption, IBD, chronic liver disease - Chronic Severe Infections - Hematological : Thalassemia, Sickle cell anemia

6. iii) Psychosocial Short Stature (emotional deprivation) iv) Endocrine Causes: - Growth Hormone Deficiency/ insensitivity - Hypothyroidism - Juvenile Diabetes Mellitus - Cushing Syndrome - Pseudohypoparathyroidism - Precocious/ delayed puberty

7. B) Disproportionate Short Stature 1) With Short Limbs: - Achondroplasia, Hypochondroplasia, Chondrodysplasia punctata, Chondroectodermal Dysplasia, Diastrophic dysplasia, Metaphyseal Chondrodysplasia - Deformities due to Osteogenesis Imperfecta, Refractory Rickets 2) With Short Trunk: - Spondyloepiphyseal dysplasia, Mucolipidosis, Mucopolysaccharidosis - Caries Spine, Hemivertebrae

8. Feature Familial Short Stature Constitutional Short Stature 1) Sex Both equally affected More common in boys 2) Length at Birth Normal Normal (starts falling <5 th centile in 1 st 3yrs of life) 3) Family History Of short stature Of delayed puberty 4) Parents Stature Short (one or both) Average 5) Height Velocity Normal Normal 6) Puberty Normal Delayed 7) Bone Age & Chronological Age BA = CA > Height Age CA > BA = Height Age 8) Final Height Short, but normal for target height Normal

9. Arrest of fetal growth in early embryonic life causes reduction in total number of cells, leading to diminished growth potential in postnatal life BW <10 th centile for gestational age Most of these babies show catch-up growth by 2yrs of age, but 20-30% may remain short Subtle defects in the GH-IGF axis are considered to be responsible Growth Velocity is normal BA = CA Learning disabilities could be present

10. Chromosomal Disorders - Turner syndrome ( XO) : an incidence of 1 in 2000 live births - should be ruled out even if typical phenotypic features are absent - Other e.g.: Down, Noonan, Prader-Willi, Silver- Russel, Seckle syndrome B) Inborn Errors of Metabolism -eg. Galactosemia, Aminoaciduria

11. One of the commonest cause of short stature in India Protein Energy Malnutrition, anemia and trace element deficiency such as Zinc def are common causes Weight gain is slow and muscles are wasted. Long standing malnutrition leads to Stunting BA < CA Diagnosis: good dietary history, anthropometric measurements

12. Chronic Infections -eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis - Growth retardation is due to impaired appetite, decreased food intake, increased catabolism, poor utilization of food, vomiting & diarrhoea 2) Malabsorbtion Syndromes - eg: chronic recurrent infective diarrhoea, lactose intolerance, cystic fibrosis, celiac disease, giardiasis, cow’s milk allergy, abeta lipoproteinemia

13. 3) Birth defects: CHD, urinary tract & nervous system anomalies 4) Miscellaneous: Cirrhosis of liver, bronchiectasis, acquired heart diseases, cardiomyopathies, SDH

14. Human growth hormone deficiency - Normal length & weight at birth - Growth delay seen >1yr of age, growth velocity < 4cm/year - BA < CA by at least 2 yrs - Infantile gonadal devlopment, - Delay in SSC - Normal intelligence - Diagnosis: hGH levels in sleep & after provocation with clonidine, insulin, propranolol - hGH>10ng/ml excludes hGH deficiency

15. 2) Laron’s Syndrome - Metabolic disorder, AR inheritence - Clinically resembles hGH deficiency, but blood hGH levels are high - Somatomedin levels are low 3) Type 1 Diabetes Mellitus - significant growth retardation - insulin has chondrotropic effect

16. 4) Hypothyroidism - Short, stocky child; dull looking, puffy face - Thickened skin & subcutaneous tissue with myxematous appearance, cold intolerance - Protuberant abdomen with umbilical hernia - Infantile sexual development & delayed puberty - Bone age markedly delayed - Diagnosis- Low T4 levels, high TSH levels

17. 5) Cushing syndrome: Growth retardation ( early feature) Other features: Obesity, plethoric moon facies, abdominal striae, hypertension, decreased glucose tolerance 6) Gonadal disorders: - Adiposogenital dystrophy ( Frohlich syndrome) moderate growth retardation, bone age normal or slightly delayed - Precocious puberty: early fusion of epiphyseal centres

18. Aka: emotional deprivation dwarfism, maternal deprivation dwarfism, hyperphagic short stature Functional hypopituitarism- low IGF-1 levels & inadequate response to GH stimulation Type1- below 2 yrs, failure to thrive, no Gh deficiency Type2- in > 3 yrs Other behavioural disorders: enuresis, encorpresis, sleep & appetite disturbances, crying spasms, tantrums Dental eruptions & sexual development delayed

19. Aka chondrodysplasias Inborn error in formation of components of skeletal system causing disturbance of cartilage & bone Abnormal skeletal proportions & severe short stature Diagnosis- family history, measurement of body proportions, examination of limbs & skulls, skeletal survey

20. 1) Accurate height measurement Below 2 yrs- supine length with infantometer For older children - Stadiometer

21. 2) Assessment of body proportion  Upper segment: Lower segment ratio Increase: rickets, achondroplasia, untreated hypothyroidism Decrease: spondyloepiphyseal dysplasia, vertebral anomalies Comparison of arm span with height

22. 3) Assessment of height velocity Rate of increase in height over a period of time, expressed as cm/year If low – pathological cause of short stature 4) Comparison with population norms Height plotted on appropriate growth charts & expressed as centile or SD score

23. 5) Comparison with child’s own genetic potential Mid parental height for boys = mother's height + father's height /2 + 6.5cm Mid parental height for girls = mother's height + father's height /2 – 6.5cm 6) Sexual maturity rating ( SMR): Also known as Tanners stages Used in older children Total 5 stages included in each gender

24. Males: SMR Pubic Hair Stage 1 Preadolescent Stage 2 Scanty, long, slightly pigmented, primarily at base of penis Stage 3 Darker, coarser, starts to curl, small amount Stage 4 Coarse, curly; resembles adult type but covers smaller area Stage 5 Adult quantity and distribution, spread to medial surface of thighs

25. SMR Genitals Penis Testes Stage 1 Preadolescent Preadolescent Stage 2 Slight or no Beginning enlargement enlargement of testes and scrotum; scrotal skin reddened, texture altered Stage 3 Longer Further enlargement of testis and scrotum Stage 4 Larger in breadth, Testes & scrotum nearly glans penis develops adult Stage 5 Adult Adult

26. SMR Females SMR Pubic Hair Stage 1 Preadolescent Stage 2 Sparse, slightly pigmented, straight, at medial border of labia Stage 3 Darker, beginning to curl, increased amount Stage 4 Coarse, curly, abundant, but amount less than in adult Stage 5 Adult feminine triangle, spread to medial surface of thighs

27. SMR Breasts Stage 1 Preadolescent; elevation of papilla only Stage 2 Breast and papilla elevated as small mound; areola diameter increased Stage 3 Breast and areola enlarged with no separation of their contours Stage 4 Projection of areola and papilla to form secondary mound above the level of the breast Stage 5 Mature; projection of papilla only, areola has recessed to the general contour of the breast Tanner JM. 1962. Growth at Adolescence (2nd ed.). Oxford, England: Blackwell Scientific Publications.

28. Detailed history Careful examination Laboratory evaluation

29. History Etiology History of delay of puberty in parents Constitutional delay of growth Low Birth Weight SGA Neonatal hypoglycemia, jaundice, micropenis GH deficiency Dietary intake Under nutrition Headache, vomiting, visual problem Pituitary/ hypothalamic SOL Lethargy, constipation, weight gain Hypothyroidism Polyuria CRF, RTA Social history Psychosocial dwarfism Diarrhea, greasy stools Malabsorption

30. Pointer Etiology Midline defects, micropenis, Frontal bossing, depressed nasal bridge, crowded teeth, GH deficiency Rickets Renal failure, RTA, malabsorption Pallor Renal failure, malabsorption, nutritional anemia Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis Obesity Hypothyroidism, Cushing syndrome, Prader Willi syndrome Metacarpal shortening Turner syndrome, pseudohypoparathyroidism Cardiac murmur Congenital heart disease, Turner syndrome Mental retardation Hypothyroidism, Down/ Turner syndrome, pseudohypoparathyroidism

31. Examination finding Etiology Disproportion Skeletal dysplasia, rickets, hypothyroidism Dysmorphism Congenital syndromes Hypertension CRF Goitre, coarse skin Hypothyroidism Central obesity, striae Cushing syndrome

32. Level 1 ( essential investigations): Complete hemogram with ESR BONE AGE Urinalysis ( Microscopy, pH, Osmolality) Stool ( parasites, steatorrhea, occult blood) Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases)

33. Bone age assessment should be done in all children with short stature Appearance of various epiphyseal centers & fusion of epiphyses with metaphyses tells about the skeletal maturity of the child Conventionally read from Xray of hand & wrist using Gruelich-Pyle atlas or Tanner- Whitehouse method

34. Bone age gives an idea as to what proportion of adult height has been achieved by the child & what is remaining potential for height gain BA is delayed compared to chronological age in almost all causes of short stature Exceptions: Familial short stature, Precocious puberty

35. Level 2: Serum thyroxine, TSH Karyotype to rule out Turner syndrome in girls If above investigations are normal and height between -2 to -3 SD  Observe height velocity for 6-12 months If height < 3SD  level 3 investigations

36. Level 3: Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies) Duodenal biopsy GH stimulation test with Clonidine or insulin & serum insulin like GF-1 levels

37. Counselling of parents ( for physiological causes) Dietary advice ( Undernutrition, Celiac disease, RTA ) Limb lengthening procedures ( skeletal dysplasias ) Levothyroxine ( In Hypothyroidism) GH s/c injections ( GH deficiency, Turner syndrome, SGA, CRF prior to transplant)

38. Monitoring with regular & accurate recording of height is mandatory for a good outcome in any form of therapy

39. Genghis Khan Voltaire Pablo Picasso