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Short Stature in Children PowerPoint Presentation

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Description : Check out this medical titled "SHORT STATURE IN CHILDREN".

This medical talks about short stature in children which is defined as height below the 3rd percentile for their age and gender. There can be various causes for short stature, including normal genetic variation, prenatal factors, and postnatal factors.

Tags : short stature in children, normal genetic variation, prenatal factors, postnatal factors, endocrinology, endocrinology

Published on : Apr 21, 2023 | Views : 2474 | Downloads : 4

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SHORT STATURE IN CHILDREN
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Height below 3rd 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 25th percentile over 6-12 months of observation The term ‘Dwarfism’ is no longer used for short stature Definition: Essential Pediatrics, 7th Edition, OP Ghai; Fima Lifschitz- Pediatric Endocrinology
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Approximately 3% children in any population will be short Approximately half will be physiological ( familial or constitutional ) & half will be pathological short stature
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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) Causes Of Short Stature:
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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
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iii) Psychosocial Short Stature (emotional deprivation) iv) Endocrine Causes: - Growth Hormone Deficiency/ insensitivity - Hypothyroidism - Juvenile Diabetes Mellitus - Cushing Syndrome - Pseudohypoparathyroidism - Precocious/ delayed puberty
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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
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Comparison
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Arrest of fetal growth in early embryonic life causes reduction in total number of cells, leading to diminished growth potential in postnatal life BW <10th 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 Intra-uterine Growth Restriction
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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 Genetic Syndromes:
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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 Under nutrition:
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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 Chronic Systemic Illness:
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3) Birth defects: CHD, urinary tract & nervous system anomalies 4) Miscellaneous: Cirrhosis of liver, bronchiectasis, acquired heart diseases, cardiomyopathies, SDH
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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 Endocrine causes:
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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
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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
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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
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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 Psychosocial short stature:
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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 Skeletal dysplasias:
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1) Accurate height measurement Below 2 yrs- supine length with infantometer For older children- Stadiometer Assessment of a child with short stature
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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
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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
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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
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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
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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
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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
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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.
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Detailed history Careful examination Laboratory evaluation Diagnosis
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Clues to etiology from history
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Pointers to etiology of short stature
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Clues to etiology from examination
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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) Investigation:
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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 BONE AGE ( BA ):
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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
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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
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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
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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) Management:
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Monitoring with regular & accurate recording of height is mandatory for a good outcome in any form of therapy
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Genghis Khan Voltaire Pablo Picasso
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MCQs
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This is NOT a cause pf pathological short stature (a) Familial (b)cushings disease © chronic disease (d)malabsorption syndrone
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Upper segment can be ideally measured with the child (a) lying down (b) standing © sitting on a stool (d) squatting
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For calculaing mid-parental height of a girl, we first compute the average parental height and then (a) add 6.5 cm (b) substract 6.5 cm © add 10 cm (d) substract 10 cn
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Normal US:LS ratiois 1 by ___ years (a) 2 (b) 3 © 6 (d) 10
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Disproportional short stature is NOT found in (a) skeletal dysplasia (b) rickets © chronic renal failure (d) hypothyroidism
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Children with familial short stature show catch down growth between (a) birth - 2 years (b) 3-5 years © at 7-10 years (d) 12- 16 years
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A syndrome NOT associated with short stature is (a) Down (b) Turner © Prader willi (d) Klienfelter
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A child with short stature has midline defects and micropenis. The most likely diagnosis is (a) Rickets (b) growth hormone deficiency ©Turner's syndrome (d) cystic fibrosis
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Short stature with mental retardation is NOT seen in this condition (a) Cushing's syndrome (b) hypothyroidism © pseudohypoparathyroidism (d) Turner syndrome
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Growth hormone provocation test CANNOT be done by (a) glucagon (b) insulin © clonidine (d) Glucose