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ISTORY TAKING IN
ISTORY TAKING IN
PEDIATRIC ENDOCRINEEDIATRIC ENDOCRINE
DISEASE
ISEASE
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DEFINITION
EFINITION
The term short stature describes heightThe term short stature describes height
that is in the third percentile as comparedthat is in the third percentile as compared
to the average height for a person’s age,to the average height for a person’s age,sex, and racial groupsex, and racial group
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Causes
auses
Normal variantsNormal variants
Non-endocrine causesNon-endocrine causes
Endocrine causesEndocrine causes
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CAUSES OF SHORT STATURECAUSES OF SHORT STATURE
Nonendocrine CausesNonendocrine CausesConstitutional short statureConstitutional short stature
Genetic short statureGenetic short stature
Intrauterine growth retardation and SGAIntrauterine growth retardation and SGA
Syndrome of short statureSyndrome of short stature
Turner’s syndrome and its variantsTurner’s syndrome and its variants
oonan’s syndrome !"seudo#Turner’s syndrome$oonan’s syndrome !"seudo#Turner’s syndrome$
"rader#%illi syndrome"rader#%illi syndrome
&aurence#'oon and (ardet#(iedl syndrome&aurence#'oon and (ardet#(iedl syndrome
)ther autosomal abnormalities * dysmorphic synd)ther autosomal abnormalities * dysmorphic synd
Chronic diseaseChronic disease
# Cardiac disorder # Cardiac disorder
&eft to right shunt&eft to right shunt
Congestive heart failureCongestive heart failure
# "ulmonary disorders# "ulmonary disorders
Cystic fibrosisCystic fibrosis
Asthma Asthma
# Gastrointestinal disorders# Gastrointestinal disorders
'alabsorption !eg, celiac disease$'alabsorption !eg, celiac disease$
+isorders of swallowing+isorders of swallowing
# epatic disorders# epatic disorders
# ematologic disorders# ematologic disorders
Sic-le cell anemiaSic-le cell anemia
ThalassemiaThalassemia
# .enal disorders# .enal disorders
.enal tubular acidosis.enal tubular acidosis
Chronic uremiaChronic uremia
# Immunologic disorders# Immunologic disorders
Connective tissue diseaseConnective tissue disease
/uvenile rheumatoid arthritis/uvenile rheumatoid arthritis
Chronic infectionChronic infection
# Central nervous system disorders# Central nervous system disorders
# 'alnutrition# 'alnutrition
+ecreased availability of nutrients+ecreased availability of nutrients
0ad diets0ad diets
1oluntary dieting1oluntary dieting
Anorexia nervosa Anorexia nervosa
Anorexia of cancer chemotherapy Anorexia of cancer chemotherapy
Endocrine disordersEndocrine disordersG deficiency and variantsG deficiency and variants
# Congenital G deficiency# Congenital G deficiency
# %ith midline defects# %ith midline defects
# %ith other pituitary hormone deficiencies# %ith other pituitary hormone deficiencies
# Isolated G deficiency# Isolated G deficiency
# "ituitary agenesis# "ituitary agenesis
# Ac2uired G deficiency# Ac2uired G deficiency
ypothalamic#pituitary tumorsypothalamic#pituitary tumors
istiocytosis 3istiocytosis 3
Central nervous system infectionsCentral nervous system infections
ead in4uriesead in4uries
G deficiency following cranial irradiationG deficiency following cranial irradiation
Central nervous system vascular accidentsCentral nervous system vascular accidents
ydrocephalusydrocephalus
5mpty sella syndrome5mpty sella syndrome
# Abnormalities of G action# Abnormalities of G actionG insensitivity !&aron’s dwarfism$G insensitivity !&aron’s dwarfism$
"rimary IG0#6 deficiency"rimary IG0#6 deficiency
IG0 receptor defectIG0 receptor defect
"sychosocial dwarfism"sychosocial dwarfism
ypothyroidismypothyroidism
Glucocorticoid excess !Cushing’s syndrome$Glucocorticoid excess !Cushing’s syndrome$
5ndogenous5ndogenous
5xogenous5xogenous
"seudohypoparathyroidism"seudohypoparathyroidism
+isorders of vitamin + metabolism+isorders of vitamin + metabolism
+iabetes mellitus, poorly treated+iabetes mellitus, poorly treated
+iabetes Insipidus, poorly treated+iabetes Insipidus, poorly treated
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Normal variantsNormal variants
0amilial !genetic$ short stature and0amilial !genetic$ short stature andconstitutional short stature are commonconstitutional short stature are commonvariations of normalvariations of normal77
Individuals with familial short stature have aIndividuals with familial short stature have anormal growth rate even though it is below thenormal growth rate even though it is below the8th percentile8th percentile
They do not have s-eletal delay, puberty andThey do not have s-eletal delay, puberty and
pubertal growth spurt occur at the usualpubertal growth spurt occur at the usualchronological age, and final height ischronological age, and final height isappropriate for mid#parental target heightappropriate for mid#parental target height
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Normal variantsNormal variants
Those with constitutional short stature have growthThose with constitutional short stature have growthdeceleration in the first two years of life, with normaldeceleration in the first two years of life, with normalgrowth velocity being achieved by age three andgrowth velocity being achieved by age three andcontinuing throughout childhoodcontinuing throughout childhood
)nset of puberty is usually delayed)nset of puberty is usually delayed Adult height is in the normal range but varies according Adult height is in the normal range but varies according
to parental heightto parental height
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Non-eno!rine !auses
on-eno!rine !auses
on#endocrine causes of short stature are commoner than endocrineon#endocrine causes of short stature are commoner than endocrinecausescauses
"atients with non#endocrine disease tend to have normal body"atients with non#endocrine disease tend to have normal bodyproportionsproportions
Chronic malnutrition is the commonest cause of poor growth globally 9Chronic malnutrition is the commonest cause of poor growth globally 9
inflammatory bowel disease, coeliac disease, or anorexia nervosainflammatory bowel disease, coeliac disease, or anorexia nervosa Short stature is also commonly associated with renal disease, andShort stature is also commonly associated with renal disease, and
conditions associated with hypoxia or hypoxaemia, such as congenitalconditions associated with hypoxia or hypoxaemia, such as congenitalheart disease, pulmonary disease, and haemoglobinopathiesheart disease, pulmonary disease, and haemoglobinopathies
""sychosocial deprivation often causes short stature7 "lacing the child in asychosocial deprivation often causes short stature7 "lacing the child in adifferent environment results in growth catching up7different environment results in growth catching up7
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Eno!rine !ausesEno!rine !auses
Growth hormone deficiency or insufficiency is an uncommonGrowth hormone deficiency or insufficiency is an uncommoncause of short staturecause of short stature
"revalence of the condition 96 in :;;;"revalence of the condition 96 in :;;; Classic G deficiency 9 short stature, increased fat mass leadingClassic G deficiency 9 short stature, increased fat mass leading
to a
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Eno!rine !ausesEno!rine !auses
The impairment of growth in Cushing>sThe impairment of growth in Cushing>ssyndrome is predominantly the result of asyndrome is predominantly the result of a
direct effect at the growth plate7 Thedirect effect at the growth plate7 Thecommonest cause is iatrogeniccommonest cause is iatrogenic!treatment with glucocorticoids$, with!treatment with glucocorticoids$, withendogenous glucocorticoid excessendogenous glucocorticoid excess
!Cushing>s syndrome dependent on the!Cushing>s syndrome dependent on thepituitary and adrenal glands$ being muchpituitary and adrenal glands$ being muchrarer7rarer7
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Causes
auses
Several factors contribute to short stature, including9Several factors contribute to short stature, including9 Genetic factors !eg, s-eletal dysplasias,Genetic factors !eg, s-eletal dysplasias, Turner syndromeTurner syndrome,, +own’s syndrome+own’s syndrome,,
Silver .ussell syndrome$Silver .ussell syndrome$ 5ndocrine disorders !eg,5ndocrine disorders !eg, hypothyroidismhypothyroidism,, growth hormone deficiency$growth hormone deficiency$ +elayed puberty !causes temporary short stature, but normal height is eventually+elayed puberty !causes temporary short stature, but normal height is eventually
achieved$achieved$ 5arly puberty5arly puberty 'alnourishment !on a global scale, this is the most common cause of growth'alnourishment !on a global scale, this is the most common cause of growth
failure and is generally associated with poverty$failure and is generally associated with poverty$ Chronic diseases9Chronic diseases9
Congenital heart diseaseCongenital heart disease ?idney diseases?idney diseases
Asthma Asthma Sic-le cell anemiaSic-le cell anemia Gastrointestinal disorders !eg,Gastrointestinal disorders !eg, inflammatory bowel disease$inflammatory bowel disease$ &ung conditions ! cystic fibrosis, severe&ung conditions ! cystic fibrosis, severe asthma, chronic obstructive pulmonaryasthma, chronic obstructive pulmonary
disease$disease$
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ISTORY TAKING
ISTORY TAKING
1.1. Initiating the sessionInitiating the session# Greeting, Introduce, obtain patient’s name, sex, date of birth, and# Greeting, Introduce, obtain patient’s name, sex, date of birth, and
Address Address
2.2. Identifying the reason for the consultationIdentifying the reason for the consultation 99
## Chief complainChief complain## 5xplanation about hystory ta-ing5xplanation about hystory ta-ing
3.3. Gathering informationGathering information# istory of present illness# istory of present illness # "regnancy# "regnancy
# (irth istory# (irth istory # istory of +evelopment# istory of +evelopment# 0amily istory# 0amily istory # istory of +isease# istory of +isease
# 'edications# 'edications # +iet# +iet
# Accidents# Accidents # Social# Social
:7:7 ClosingClosing
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istor" o# $resent
istor" o# $resent
illnessllness
The onsetThe onset
)ther symptom!s$)ther symptom!s$
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Pre%nan!"
re%nan!"
utritional statusutritional status
Toxic or medication exposureToxic or medication exposure
Gestational ageGestational age
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&irt' istor"
irt' istor"
+elivery+elivery
A"GA. score A"GA. score
(irth weight * length(irth weight * length
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istor" o# Develo$ment
istor" o# Develo$ment
Age of milestone 9 Age of milestone 9 sitting, wal-ing, spea-ingsitting, wal-ing, spea-ingwordswords
5ducational achievement5ducational achievement
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Famil" istor"
amil" istor"
0amily member with short stature0amily member with short stature
ConsanguinityConsanguinity
eight and weight of siblingseight and weight of siblings
eight and weight of parentseight and weight of parents
"uberty"uberty
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istor" o# Disease
istor" o# Disease
GastrointestinalGastrointestinal
&ung&ung
earteart
?idney disease?idney disease
Anemia Anemia
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(ei!ations
ei!ations
CorticosteroidsCorticosteroids
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DIET
IET
Ade2uate food !2uantity$ Ade2uate food !2uantity$
@uality !healthful$@uality !healthful$
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A!!ients
!!ients
eadead
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SOCIA)
OCIA)
ome 9ome 9 interactioninteraction
School 9School 9 interrelationship with schoolmatesinterrelationship with schoolmates
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