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Presentation on theme: "HISTORY TAKING IN PEDIATRIC ENDOCRINE DISEASE"— Presentation transcript:


The term short stature describes height that is in the third percentile as compared to the average height for a person’s age, sex, and racial group



5 Causes Normal variants Non-endocrine causes Endocrine causes

Nonendocrine Causes Constitutional short stature Genetic short stature Intrauterine growth retardation and SGA Syndrome of short stature Turner’s syndrome and its variants Noonan’s syndrome (Pseudo-Turner’s syndrome) Prader-Willi syndrome Laurence-Moon and Bardet-Biedl syndrome Other autosomal abnormalities & dysmorphic synd Chronic disease - Cardiac disorder Left to right shunt Congestive heart failure - Pulmonary disorders Cystic fibrosis Asthma - Gastrointestinal disorders Malabsorption (eg, celiac disease) Disorders of swallowing - Hepatic disorders - Hematologic disorders Sickle cell anemia Thalassemia - Renal disorders Renal tubular acidosis Chronic uremia - Immunologic disorders Connective tissue disease Juvenile rheumatoid arthritis Chronic infection - Central nervous system disorders - Malnutrition Decreased availability of nutrients Fad diets Voluntary dieting Anorexia nervosa Anorexia of cancer chemotherapy Endocrine disorders GH deficiency and variants - Congenital GH deficiency - With midline defects - With other pituitary hormone deficiencies - Isolated GH deficiency - Pituitary agenesis - Acquired GH deficiency Hypothalamic-pituitary tumors Histiocytosis X Central nervous system infections Head injuries GH deficiency following cranial irradiation Central nervous system vascular accidents Hydrocephalus Empty sella syndrome - Abnormalities of GH action GH insensitivity (Laron’s dwarfism) Primary IGF-1 deficiency IGF receptor defect Psychosocial dwarfism Hypothyroidism Glucocorticoid excess (Cushing’s syndrome) Endogenous Exogenous Pseudohypoparathyroidism Disorders of vitamin D metabolism Diabetes mellitus, poorly treated Diabetes Insipidus, poorly treated

7 Normal variants Familial (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 percentile They 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

8 Normal variants Those 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 childhood Onset of puberty is usually delayed Adult height is in the normal range but varies according to parental height

9 Non-endocrine causes Non-endocrine causes of short stature are commoner than endocrine causes Patients with non-endocrine disease tend to have normal body proportions Chronic malnutrition is the commonest cause of poor growth globally : inflammatory bowel disease, coeliac disease, or anorexia nervosa Short stature is also commonly associated with renal disease, and conditions associated with hypoxia or hypoxaemia, such as congenital heart disease, pulmonary disease, and haemoglobinopathies Psychosocial deprivation often causes short stature. Placing the child in a different environment results in growth catching up.

10 Endocrine causes Growth hormone deficiency or insufficiency is an uncommon cause of short stature Prevalence of the condition :1 in 4000 Classic 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

11 Endocrine causes The 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.

12 Causes 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 puberty Malnourishment (on a global scale, this is the most common cause of growth failure and is generally associated with poverty) Chronic diseases: Congenital heart disease Kidney diseases Asthma Sickle cell anemia Gastrointestinal disorders (eg, inflammatory bowel disease) Lung conditions ( cystic fibrosis, severe asthma, chronic obstructive pulmonary disease)

13 HISTORY TAKING 3. Gathering information 4. Closing
Initiating the session - Greeting, Introduce, obtain patient’s name, sex, date of birth, and Address Identifying the reason for the consultation : - Chief complain - Explanation about hystory taking 3. Gathering information - History of present illness - Pregnancy - Birth History - History of Development - Family History - History of Disease - Medications - Diet - Accidents - Social 4. Closing

14 History of present illness
The onset Other symptom(s)

15 Pregnancy Nutritional status Toxic or medication exposure
Gestational age

16 Birth History Delivery APGAR score Birth weight & length

17 History of Development
Age of milestone : sitting, walking, speaking words Educational achievement

18 Family History Family member with short stature Consanguinity
Height and weight of siblings Height and weight of parents Puberty

19 History of Disease Gastrointestinal Lung Heart Kidney disease Anemia

20 Medications Corticosteroids

21 DIET Adequate food (quantity) Quality (healthful)

22 Accidents Head

23 SOCIAL Home : interaction School : interrelationship with schoolmates



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