SHORT STATURE

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Approach to SHORT STATURE:

Approach to SHORT STATURE By – DR ISHA DESHMUKH ASSISTANT PROFESSOR GGMC , MUMBAI

Definition :

Definition Height below 3 rd percentile OR below 2 SD for age and gender Height within normal percentiles, but short for mid parental or target height Height within normal percentiles for national and parental standards at present, but growth velocity consistently below 25 th percentile over 6 to 12 months

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The height velocity < 25 th percentile for age McLaren’s classification: Normal – 93 -100% Short stature – 80-93% Dwarf - <80%

Evaluation :

Evaluation History taking – place - age- exp height is calculated from age - gender- Noonan’s – males Turner’s – females Const growth delay is common among boys Community Race

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Presenting complaints – Not gaining height Short for age HOPI – Failure to gain weight Features of malnutrition – mental apathy , irritability, loss of weight Features of malabsorption- diarrhoea, steatorrhoea

Evaluation - history:

Evaluation - history History Etiology Antenatal substance abuse, PIH, LBW IUGR Breech , hypoglycemia, jaundice, micropenis GH deficiency Oedema hands & feet Turner Polyuria CRF Tachypnoea, cynosis, cough, fever CHD, Asthma, TB

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History Etiology Diarrhoea, abdominal pain, steatorrhea Malabsorption Headache, visual problems, vomitting CNS - craniopharyngioma Constipation, wt gain, inadequate growth hypothyroidism Social history Psychosocial dwarfism Diet, sunlight exposure PEM, Rickets F/H of Ht, timing of puberty in parents Familial ,constitutional

Slide8:

Features of CVS- dyspnoea, orthopnoea, PND, LRTI. Cyanosis Features of RS- chronic suppurative lung dis Features of renal system – polyuria, oliguria, polydipsia Features of hypothyroidism –intolerance to cold, decreased activity, lethargy, constipation, hoarseness of voice

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Features of Cushing’s syndrome – moon face, obesity, headache, vomiting, diplopia Features of craniopharyngioma Chronic infections- HIV, TB h/o failure to develop secondary sexual characters – menarche, axillary and pubic hair, thelarche, change in voice for boys

History of past illness:

History of past illness h/o infections h/o trauma h/o oliguria, vomiting h/o cardiac illness h/o jaundice h/o bone pain h/o chest pain / difficulty in breathing

Treatment history:

Treatment history h/o hospitalisation h/o androgens, steroids, anti-malignancy agents h/o surgery h/o irradiation

Antenatal history:

Antenatal history Maternal illness – TOF  IUGR UTI , TORCH  IUGR Smoking, alcohol Exposure to radiation h/o placental insufficiency Drug intake Multiple gestation

Natal events:

Natal events Birth weight Length at birth Term/ preterm Congenital anomalies h/o hypoxia

Growth and development history:

Growth and development history h/o developmental delay h/o decreased growth velocity h/o hyperactive behaviour h/o precocious puberty h/o food fads h/o low socio-economic status Environmental history

General examination:

General examination Temperature Heart rate Pulse Respiratory rate/ pattern Blood pressure Spo2 Anthropometric measurements

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Hair, head, neck Facies Eyes Nose Oral cavity Ears Nutritional status Skeletal abnormalities

Evaluation - examination:

Evaluation - examination Physical feature Etiology Disproportion Skeletal dysplasia Rickets Hypothyroidism Dysmorphism, midline defect Syndromic Hypopituitarism Pallor Anemia CRF Hypothyroidism Other vit. Def. Undernutrition Malabsorption

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Hypertension CRF Jaundice, clubbing Liver dis Frontal bossing, depressed nasal bridge, crowded teeth, small penis GH deficiency Neck swelling, coarse skin, delayed return of DTR Hypothyroidism Central obesity, striae, proximal weakness Cushing syndrome Round face, short 4 th metacarpal, MR Pseudohypoparathyroidism Visual field defect, optic atrophy, papilloedema Pituitary/hypothalamic tumors

Systemic examination:

Systemic examination CVS RS CNS Abdomen Renal Hepatic

Causes :

Causes Physiological short stature Familial BA = CA > HA Constitutional delay of growth and puberty CA > BA = HA Normal variants – 80% Pathological – 20% Divided into proportionate – prenatal, post natal causes Dis-proportionate – prenatal , post natal , dysmorphisms

Pathological short stature:

Pathological short stature Undernutrition Systemic diseases Chronic anemia Chronic renal failure Chronic asthma RTA Congenital heart disease Chronic severe infection Malabsorption Chronic liver disease Sleep apnea Psychosocial dwarfism IUGR Endocrine disorders GH deficiency/insensitivity Hypothyroidism Cushing syndrome Psuedohypo parathyroidism Skeletal dysplasia, rickets Genetic syndromes

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Physiological – m/c cause of short stature Undernutrition – m/c cause of pathological short stature

Chromosomal disorders :

Chromosomal disorders Downs syndrome Turners syndrome Noonan’s syndrome Williams syndrome Cri-du-chat syndrome Prader –willi syndrome Seckel’s syndrome Bloom syndrome

Proportionate short stature:

Proportionate short stature US : LS  Normal for age Causes – familial - constitutional - IUGR - Nutritional deficiency - endocrine disorders - McCune Albright, Laurence- moon – Biedl synd, Sotos synd, Frolich’s syndrome

Disproportionate Short stature:

Disproportionate Short stature Achondroplasia Hypochondroplasia Chondrodysplasia Rickets OI Cretinism

Short trunk dwarfism:

Short trunk dwarfism MPS- Morquio’s disease Mucolipidosis Caries spine Hemivertebra Sondylopiphyseal dysplasia Spondyloepimetaphyseal dysplasia Metatropic dwarfism

Short limbs:

Short limbs Classification Part shortened Causes Rhizomelic Proximal Achondroplasia, hypochondroplasia mesomelic middle Larger mesomelic dysplasia acromelic distal Acromelic dysplasia

Evaluation:

Evaluation Previous records, ideally birth Ht, Wt, HC MPH Measuring Height Stadiometer Infantometer Not possible – kyphoscoliosis; arm span reliable US / LS Growth velocity ( over 6 mths / 4 mths – infants)

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Calculation of target ht and target ht centile - Boys MPH ± 7.5. Girls MPH ± 6 cms. MPH at 18 yrs as growth is almost complete. *Cowell CT, short stature

Recommended intervals for growth monitoring:

Recommended intervals for growth monitoring Birth to 3 yrs Immunisation contacts + 6 mo + opportunistic monitoring (other illness) After 18 mo – 6 monthly Ht. wt. and HC till 3 yrs Penile and testicular length at birth 4 to 8 yrs Ht. Wt. – 6 monthly SMR, PL, BMI – yrly from 6 yrs onwards 8 to 18 yrs Ht., Wt., SMR, BMI - yrly

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Short stature Normal Short Present Absent Anthropometry, growth charting, MPH History, examination Reassure Routine Ht. & Wt. yearly Clues to etiology History & examination Confirmatory test Treatment Cont….

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Absent cont…. Borderline stature &/ N bone age Significantly short &/ delayed bone age Normal Abnormal Abnormal Normal Abnormal Normal Bone age Observe growth velocity Over a year physiological Reassure Ht. & Wt. yearly Screening Ix Treat cause Treat cause Idiopathic Short stature Karyotype in girls GHD, RTA, malabsorption

Screening investigations:

Screening investigations Blood Hb, PS ESR, Blood c/s Creatinine Ca/P/AP VBG Blood sugar T 3 , T 4 , TSH Urine R/ M, pH Stool Cysts / trophozoits Radiology XR hands & skull

Treatment :

Treatment Diet Medical Underlying cause GH replacement Surgical Brain tumour Limb lengthening – Ilizarov technique

Familial / genetic short stature:

Familial / genetic short stature Parents – either or both – short Length – normal or small at birth Rate of increase in height – normal Predicted adult ht appropriate to familial pattern Bone age = CA Adequate balanced nutrition Sexual maturation- normal Treatment - reassurance

Constitutional short stature:

Constitutional short stature History of delayed puberty & delayed ht spurt in one or both parents BW, BL – Normal Rate of growth de-accelerates after 12 months BA<CA, BA= HA US :LS – N, immature SMS & Pubertal growth spurt – delayed Common in boys Absence of rise of GH in pubertal period Testosterone enanthate 50-100 mg every 2-3 weekly to be given for 4-6 months to accelerate linear growth and unusual delay in onset of puberty

Growth hormone def:

Growth hormone def Rate of growth – slow, regular Failure to respond to GH – receptor defects – Laron’s syndrome Proportionate short stature Reduced growth velocity <4cm/yr Increased fat around waist Immature facial appearance Normal intelligence Delayed dentition, puberty BA< CA

Hypothyroidism:

Hypothyroidism Short stature, immature US:LS Delayed closure of fontannels Mental retardation Dull facial expression Macroglossia Constipation Delayed bone age Infantile sexual development Delayed puberty

Differences ::

Differences : Features CRETINISM PITUITARY DWARF Aetiology Decreased thyroxine levels Decreased pituitary functions appearance Coarse facies Doll like face intelligence decreased Normal Genital development normal Sexual infantilism treatment thyroxine Growth hormone

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FEATURES DOWN’S SYNDROME CRETINISM aetiology Chromosomal disorder Thyroxine def appearance Cheerful, playful, active Dull, apathy, lethargic head Microcephaly with flat occiput Microcephaly skin Fine, tender Thick, rough eyes Upward slant , epicathic fold Normal slant, dry tongue furrowed Macoglossia dermatoglyphics Simian crease Normal Congenital defects HP disease, DA Umbilical hernia inv karyotyping Low thyroid hormones complications leukemia MR, Myopathy T/ T - Replacement

Skeletal dysplasias:

Skeletal dysplasias Abnormal cartilage and bone growth Disproportionate short stature Delayed milestones MR Family h/o present Consanguinity Bone legthening procedures

MPS:

MPS Clinical features  Developmental delay / behavioural problems Hearing loss Communicating hydrocephalus Cloudy cornea, glaucoma, degeneration of retina Coarse facies, thick lips Disproportionate short stature

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Thickened skin HS megaly Hernias Excess hair growth Short , claw hands, progressive joint stiffness, carpel tunnel syndrome, restriction of movements OSA, Valvular heart diseases Spine defects

Radiological findings:

Radiological findings Bullet metacarpals Hemivertebrae Thickened calvarium Dysostosis multiplex Flexion deformity of fingers J shaped sella turcica Ulna and radius facing each other

Achondroplasia:

Achondroplasia Autosomal dominant inheritance Dysmorphic features- large head , frontal bossing, hypoplastic midface Low nasal bridge Trident hand Hyperextensible joints Lumbar lordosis Genu varum Hypotonia Delayed gross motor milestones

Radiological findings:

Radiological findings Short pelvis Broad iliac wings Posterior scalloping of vertebrae Shortened base of skull Small and irregular foramen magnum Narrow deep sciatic notches Horizontal acetabulum

rhGH – recombinant human somatotropin analogs:

rhGH – recombinant human somatotropin analogs Recombinant DNA technology in E. Coli Not of much help in physiological short stature Dose : 0.05 to 0.08 mg/kg/d sc HS – prepubertal 0.1 mg/kg/d sc HS – pubertal girls 0.2 mg/kg/d sc HS – pubertal boys Brands available : Humatrope, Nutropin, Nutropin AQ, Saizen

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Contraindications Documented hypersensitivity active neoplasm extreme obesity associated with Prader-Willi syndrome Monitoring linear growth and serum IGF-I levels - every 3 months blood glucose levels thyroid levels End point Ht velocity < 2 cms / yr over 9 mo Bone age > 13 yrs – girls, > 14 yrs - boys

Insulin like growth factor I:

Insulin like growth factor I Indication severe primary IGFD GH receptor deficiency Dosing <2 years: Not established > 2 years: 0.04-0.08 mg/kg SC bid initially with meal or snack; if tolerated after 1 wk, may increase by 0.04 mg/kg/dose, not to exceed 0.12 mg/kg bid

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Adverse effects Hypoglycemia ( with meal) preprandial glucose monitoring recommended lipohypertrophy tonsillar hypertrophy neurotoxicity in neonates – contains benzyl alcohol Papilledema - visual changes, headache, nausea, or vomiting rapid growth may cause slipped capital femoral epiphysis and scoliosis progression Monitoring linear growth and serum IGF-I levels every 6 mo

Slide51:

Follow up < 3 years : Ht. & Wt. – 3 monthly > 3 years : Ht. & Wt. – 6 monthly Prognosis Physiological short stature – better ht attained Hypothyroidism – treated 5 yrs before puberty – comparable to ht potential

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Thank You

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