6CAUSES OF SHORT STATURE Nonendocrine CausesConstitutional short statureGenetic short statureIntrauterine growth retardation and SGASyndrome of short statureTurner’s syndrome and its variantsNoonan’s syndrome (Pseudo-Turner’s syndrome)Prader-Willi syndromeLaurence-Moon and Bardet-Biedl syndromeOther autosomal abnormalities & dysmorphic syndChronic disease- Cardiac disorderLeft to right shuntCongestive heart failure- Pulmonary disordersCystic fibrosisAsthma- Gastrointestinal disordersMalabsorption (eg, celiac disease)Disorders of swallowing- Hepatic disorders- Hematologic disordersSickle cell anemiaThalassemia- Renal disordersRenal tubular acidosisChronic uremia- Immunologic disordersConnective tissue diseaseJuvenile rheumatoid arthritisChronic infection- Central nervous system disorders- MalnutritionDecreased availability of nutrientsFad dietsVoluntary dietingAnorexia nervosaAnorexia of cancer chemotherapyEndocrine disordersGH deficiency and variants- Congenital GH deficiency- With midline defects- With other pituitary hormone deficiencies- Isolated GH deficiency- Pituitary agenesis- Acquired GH deficiencyHypothalamic-pituitary tumorsHistiocytosis XCentral nervous system infectionsHead injuriesGH deficiency following cranial irradiationCentral nervous system vascular accidentsHydrocephalusEmpty sella syndrome- Abnormalities of GH actionGH insensitivity (Laron’s dwarfism)Primary IGF-1 deficiencyIGF receptor defectPsychosocial dwarfismHypothyroidismGlucocorticoid excess (Cushing’s syndrome)EndogenousExogenousPseudohypoparathyroidismDisorders of vitamin D metabolismDiabetes mellitus, poorly treatedDiabetes Insipidus, poorly treated
7Normal variantsFamilial (genetic) short stature and constitutional short stature are common variations of normal.Individuals with familial short stature have a normal growth rate even though it is below the 5th percentileThey do not have skeletal delay, puberty and pubertal growth spurt occur at the usual chronological age, and final height is appropriate for mid-parental target height
8Normal variantsThose with constitutional short stature have growth deceleration in the first two years of life, with normal growth velocity being achieved by age three and continuing throughout childhoodOnset of puberty is usually delayedAdult height is in the normal range but varies according to parental height
9Non-endocrine causesNon-endocrine causes of short stature are commoner than endocrine causesPatients with non-endocrine disease tend to have normal body proportionsChronic malnutrition is the commonest cause of poor growth globally :inflammatory bowel disease, coeliac disease, or anorexia nervosaShort stature is also commonly associated with renal disease, and conditions associated with hypoxia or hypoxaemia, such as congenital heart disease, pulmonary disease, and haemoglobinopathiesPsychosocial deprivation often causes short stature. Placing the child in a different environment results in growth catching up.
10Endocrine causesGrowth hormone deficiency or insufficiency is an uncommon cause of short staturePrevalence of the condition :1 in 4000Classic GH deficiency : short stature, increased fat mass leading to a “chubby” appearance with immature facial, immature high-pitched voice, and delay in skeletal maturation.The calvarium seems to be relatively overgrown (delayed closure of fontanelles), with prominence of the frontal bone
11Endocrine causesThe impairment of growth in Cushing's syndrome is predominantly the result of a direct effect at the growth plate. The commonest cause is iatrogenic (treatment with glucocorticoids), with endogenous glucocorticoid excess (Cushing's syndrome dependent on the pituitary and adrenal glands) being much rarer.
12Causes Several factors contribute to short stature, including: Genetic factors (eg, skeletal dysplasias, Turner syndrome, Down’s syndrome, Silver Russell syndrome)Endocrine disorders (eg, hypothyroidism, growth hormone deficiency)Delayed puberty (causes temporary short stature, but normal height is eventually achieved)Early pubertyMalnourishment (on a global scale, this is the most common cause of growth failure and is generally associated with poverty)Chronic diseases:Congenital heart diseaseKidney diseasesAsthmaSickle cell anemiaGastrointestinal disorders (eg, inflammatory bowel disease)Lung conditions ( cystic fibrosis, severe asthma, chronic obstructive pulmonary disease)
13HISTORY TAKING 3. Gathering information 4. Closing Initiating the session- Greeting, Introduce, obtain patient’s name, sex, date of birth, andAddressIdentifying the reason for the consultation :- Chief complain- Explanation about hystory taking3. Gathering information- History of present illness - Pregnancy- Birth History - History of Development- Family History - History of Disease- Medications - Diet- Accidents - Social4. Closing
14History of present illness The onsetOther symptom(s)
15Pregnancy Nutritional status Toxic or medication exposure Gestational age