Transcript HISTORY TAKING IN PEDIATRIC ENDOCRINE DISEASE

HISTORY TAKING IN
PEDIATRIC ENDOCRINE
DISEASE
DEFINITION
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
Causes
 Normal variants
 Non-endocrine causes
 Endocrine causes
CAUSES OF SHORT STATURE
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
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
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
Non-endocrine causes
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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.
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 highpitched voice, and delay in skeletal maturation.
 The calvarium seems to be relatively overgrown (delayed closure
of fontanelles), with prominence of the frontal bone
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.
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:
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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)
HISTORY TAKING
1. Initiating the session
- Greeting, Introduce, obtain patient’s name, sex, date of birth, and
Address
2. Identifying the reason for the consultation :
- Chief complain
- Explanation about hystory taking
3. Gathering information
- History of present illness
- Birth History
- Family History
- Medications
- Accidents
4. Closing
- Pregnancy
- History of Development
- History of Disease
- Diet
- Social
History of present illness
 The onset
 Other symptom(s)
Pregnancy
 Nutritional status
 Toxic or medication exposure
 Gestational age
Birth History
 Delivery
 APGAR score
 Birth weight & length
History of Development
 Age of milestone : sitting, walking, speaking
words
 Educational achievement
Family History
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Family member with short stature
Consanguinity
Height and weight of siblings
Height and weight of parents
Puberty
History of Disease
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Gastrointestinal
Lung
Heart
Kidney disease
Anemia
Medications
 Corticosteroids
DIET
 Adequate food (quantity)
 Quality (healthful)
Accidents
 Head
SOCIAL
 Home : interaction
 School : interrelationship with schoolmates