HISTORY TAKING IN HISTORY TAKING IN PEDIATRIC ENDOCRINE PEDIATRIC ENDOCRINE DISEASEDISEASE

DEFINITIONDEFINITION

The term short stature describes height The term short stature describes height that is in the third percentile as compared that 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

CausesCauses

Normal variantsNormal variants Non-endocrine causesNon-endocrine causes Endocrine causesEndocrine causes

CAUSES OF SHORT STATURECAUSES OF SHORT STATURE

Nonendocrine CausesNonendocrine CausesConstitutional short statureConstitutional short statureGenetic short statureGenetic short statureIntrauterine growth retardation and SGAIntrauterine growth retardation and SGASyndrome of short statureSyndrome of short stature

Turner’s syndrome and its variantsTurner’s syndrome and its variantsNoonan’s syndrome (Pseudo-Turner’s syndrome)Noonan’s syndrome (Pseudo-Turner’s syndrome)Prader-Willi syndromePrader-Willi syndromeLaurence-Moon and Bardet-Biedl syndromeLaurence-Moon and Bardet-Biedl syndromeOther autosomal abnormalities & dysmorphic syndOther autosomal abnormalities & dysmorphic synd

Chronic diseaseChronic disease - Cardiac disorder- Cardiac disorder

Left to right shuntLeft to right shuntCongestive heart failureCongestive heart failure

- Pulmonary disorders- Pulmonary disordersCystic fibrosisCystic fibrosisAsthmaAsthma

- Gastrointestinal disorders- Gastrointestinal disordersMalabsorption (eg, celiac disease)Malabsorption (eg, celiac disease)Disorders of swallowingDisorders of swallowing

- Hepatic disorders- Hepatic disorders - Hematologic disorders- Hematologic disorders

Sickle cell anemiaSickle cell anemiaThalassemiaThalassemia

- Renal disorders- Renal disordersRenal tubular acidosisRenal tubular acidosisChronic uremiaChronic uremia

- Immunologic disorders- Immunologic disordersConnective tissue diseaseConnective tissue diseaseJuvenile rheumatoid arthritisJuvenile rheumatoid arthritisChronic infectionChronic infection

- Central nervous system disorders- Central nervous system disorders - Malnutrition- Malnutrition

Decreased availability of nutrientsDecreased availability of nutrientsFad dietsFad dietsVoluntary dietingVoluntary dietingAnorexia nervosaAnorexia nervosaAnorexia of cancer chemotherapyAnorexia of cancer chemotherapy

Endocrine disordersEndocrine disordersGH deficiency and variantsGH deficiency and variants - Congenital GH deficiency- Congenital GH deficiency

- With midline defects- With midline defects- With other pituitary hormone deficiencies- With other pituitary hormone deficiencies- Isolated GH deficiency- Isolated GH deficiency- Pituitary agenesis- Pituitary agenesis

- Acquired GH deficiency- Acquired GH deficiencyHypothalamic-pituitary tumorsHypothalamic-pituitary tumorsHistiocytosis XHistiocytosis XCentral nervous system infectionsCentral nervous system infectionsHead injuriesHead injuriesGH deficiency following cranial irradiationGH deficiency following cranial irradiationCentral nervous system vascular accidentsCentral nervous system vascular accidentsHydrocephalusHydrocephalusEmpty sella syndromeEmpty sella syndrome

- Abnormalities of GH action- Abnormalities of GH actionGH insensitivity (Laron’s dwarfism)GH insensitivity (Laron’s dwarfism)Primary IGF-1 deficiencyPrimary IGF-1 deficiencyIGF receptor defectIGF receptor defect

Psychosocial dwarfismPsychosocial dwarfismHypothyroidismHypothyroidismGlucocorticoid excess (Cushing’s syndrome)Glucocorticoid excess (Cushing’s syndrome) EndogenousEndogenous ExogenousExogenousPseudohypoparathyroidismPseudohypoparathyroidismDisorders of vitamin D metabolismDisorders of vitamin D metabolismDiabetes mellitus, poorly treatedDiabetes mellitus, poorly treatedDiabetes Insipidus, poorly treatedDiabetes Insipidus, poorly treated

Normal variantsNormal variants

Familial (genetic) short stature and Familial (genetic) short stature and constitutional short stature are common constitutional short stature are common variations of normalvariations of normal..

Individuals with familial short stature have a Individuals with familial short stature have a normal growth rate even though it is below the normal growth rate even though it is below the 5th percentile5th percentile

They do not have skeletal delay, puberty and They do not have skeletal delay, puberty and pubertal growth spurt occur at the usual pubertal growth spurt occur at the usual chronological age, and final height is chronological age, and final height is appropriate for mid-parental target height appropriate for mid-parental target height

Normal variantsNormal variants

Those with constitutional short stature have growth Those with constitutional short stature have growth deceleration in the first two years of life, with normal deceleration in the first two years of life, with normal growth velocity being achieved by age three and growth velocity being achieved by age three and continuing throughout childhoodcontinuing throughout childhood

Onset of puberty is usually delayedOnset 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

Non-endocrine causes Non-endocrine causes

Non-endocrine causes of short stature are commoner than endocrine Non-endocrine causes of short stature are commoner than endocrine causescauses

Patients with non-endocrine disease tend to have normal body Patients with non-endocrine disease tend to have normal body proportionsproportions

Chronic malnutrition is the commonest cause of poor growth globally :Chronic malnutrition is the commonest cause of poor growth globally :inflammatory bowel disease, coeliac disease, or anorexia nervosainflammatory bowel disease, coeliac disease, or anorexia nervosa

Short stature is also commonly associated with renal disease, and Short stature is also commonly associated with renal disease, and conditions associated with hypoxia or hypoxaemia, such as congenital conditions associated with hypoxia or hypoxaemia, such as congenital heart disease, pulmonary disease, and haemoglobinopathiesheart disease, pulmonary disease, and haemoglobinopathies

PPsychosocial deprivation often causes short stature. Placing the child in a sychosocial deprivation often causes short stature. Placing the child in a different environment results in growth catching up. different environment results in growth catching up.

Endocrine causesEndocrine causes

Growth hormone deficiency or insufficiency is an uncommon Growth hormone deficiency or insufficiency is an uncommon cause of short staturecause of short stature

Prevalence of the condition :1 in 4000Prevalence of the condition :1 in 4000 Classic GH deficiency : short stature, increased fat mass leading Classic GH deficiency : short stature, increased fat mass leading

to a “chubby” appearance with immature facial, immature high-to a “chubby” appearance with immature facial, immature high-pitched voice, and delay in skeletal maturation.pitched voice, and delay in skeletal maturation.

The calvarium seems to be relatively overgrown (delayed closure The calvarium seems to be relatively overgrown (delayed closure of fontanelles), with prominence of the frontal boneof fontanelles), with prominence of the frontal bone

Endocrine causesEndocrine causes

The impairment of growth in Cushing's The impairment of growth in Cushing's syndrome is predominantly the result of a syndrome is predominantly the result of a direct effect at the growth plate. The direct effect at the growth plate. The commonest cause is iatrogenic commonest cause is iatrogenic (treatment with glucocorticoids), with (treatment with glucocorticoids), with endogenous glucocorticoid excess endogenous glucocorticoid excess (Cushing's syndrome dependent on the (Cushing's syndrome dependent on the pituitary and adrenal glands) being much pituitary and adrenal glands) being much rarer. rarer.

CausesCauses

Several factors contribute to short stature, including: Several factors contribute to short stature, including: Genetic factors (eg, skeletal dysplasias, Genetic factors (eg, skeletal dysplasias, Turner syndrome, , Down’s syndrome,,

Silver Russell syndrome) Silver Russell syndrome) Endocrine disorders (eg, Endocrine disorders (eg, hypothyroidism,, growth hormone deficiency) growth hormone deficiency) Delayed puberty (causes temporary short stature, but normal height is eventually Delayed puberty (causes temporary short stature, but normal height is eventually

achieved) achieved) Early puberty Early puberty Malnourishment (on a global scale, this is the most common cause of growth Malnourishment (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 diseases: Chronic diseases:

Congenital heart disease Congenital heart disease Kidney diseases Kidney diseases Asthma

Sickle cell anemia Gastrointestinal disorders (eg, Gastrointestinal disorders (eg, inflammatory bowel disease) inflammatory bowel disease) Lung conditions ( cystic fibrosis, severe Lung conditions ( cystic fibrosis, severe asthma, chronic obstructive pulmonary asthma, chronic obstructive pulmonary

disease) disease)   

HISTORY TAKINGHISTORY TAKING1.1. 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 AddressAddress

2.2. Identifying the reason for the consultationIdentifying the reason for the consultation : : - - Chief complainChief complain- - Explanation about hystory takingExplanation about hystory taking

3.3. Gathering informationGathering information- History of present illness - History of present illness - Pregnancy- Pregnancy- Birth History- Birth History - History of Development- History of Development- Family History- Family History - History of Disease- History of Disease- Medications- Medications - Diet- Diet- Accidents- Accidents - Social- Social

4.4. ClosingClosing

History of present illnessHistory of present illness

The onsetThe onset Other symptom(s) Other symptom(s)

PregnancyPregnancy

Nutritional statusNutritional status Toxic or medication exposureToxic or medication exposure Gestational ageGestational age

Birth HistoryBirth History

DeliveryDelivery APGAR scoreAPGAR score Birth weight & lengthBirth weight & length

History of DevelopmentHistory of Development

Age of milestone : Age of milestone : sitting, walking, speaking sitting, walking, speaking wordswords

Educational achievementEducational achievement

Family HistoryFamily History

Family member with short statureFamily member with short stature ConsanguinityConsanguinity Height and weight of siblingsHeight and weight of siblings Height and weight of parentsHeight and weight of parents PubertyPuberty

History of DiseaseHistory of Disease

GastrointestinalGastrointestinal LungLung HeartHeart Kidney diseaseKidney disease AnemiaAnemia

MedicationsMedications

CorticosteroidsCorticosteroids

DIETDIET

Adequate food (quantity)Adequate food (quantity) Quality (healthful)Quality (healthful)

AccidentsAccidents

HeadHead

SOCIALSOCIAL

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