Paediatric Endocrine Disorders F Thyroid disorders F Childhood diabetes mellitus F Pubertal...
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Transcript of Paediatric Endocrine Disorders F Thyroid disorders F Childhood diabetes mellitus F Pubertal...
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Paediatric Endocrine Disorders
Thyroid disorders Childhood diabetes mellitus Pubertal disorders - early/late Pituitary disorders - hypopituitarism Adrenal disorders - CAH
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CHILDHOOD DIABETES MELLITUS
Type 1, IDDM juvenile onset Type 2, NIDDM adult onset Worldwide incidence For IDDM <15 years FINL
AND 35-40/100,000/year USA/ENGLAND 13- 20/100,000/year JAPAN 1.7/100,000/year HONG KONG 1 - 2/100.000/year
ETIOLOGY : TYPE 1 - Genetic factors Autoimmunity - HLA: DR, DQ Infection - coxsakie Cow milk intake, climate
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DIAGNOSIS OF CHILDHOOD IDDM
SYMPTOMS
- Polyuria, Polydipsia, Polyphagia and weight l
oss, duration of symptoms: 2-3 weeks
10 to 50% presented with DKA at Dx, pH 6.9-7.2
Differential Dx: NONE
Urine and blood for Ketone bodies: positive
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Childhood DM Type 1 DM:Lab Dx
Glucose tolerance test - not needed for Dx
Random glucose at Dx = 20-30 mmol/l
80-90% Anti-glutamic acid decarboxylase +ve (anti- G
AD) in Caucasians
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Type 1 DM : MANAGEMENT
Principles of treatment
1. Meal planning (Diet): 3 meals + 3 snacks
2. Insulin injections (1 to 4/day or pump)
3. Blood sugar testing
4. Adequate physical activity
5. Psychosocial support - psychological/financial
6. Education - patients, parents and relatives
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Precocious puberty - Approach
normal puberty
Tanner staging- breast, pubic hair, genitalia
median (range)
onset: female 10 7- 12.5
male 11.5 9- 14.5 sequence of events
female : breast growth spurt PH menses
male :testes enlargement PH growth spurt
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Precocious Puberty
Premature development of pubertal changes
( Which may or may not follow the normal sequence o
f events)
Premature thelarche
Isolated premature development of the breast
Premature adrenarche
Isolated premature development of sexual hair
Premature menarche
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Differential Dx- Precocious Puberty
Brain (Infection, trauma, tumor)
Pituitary
FSH
LH
Gonads (tumor) Adrenal (tumor
CAH, steroid)
Injection
Ingestion Sex steroid Pubertal changes
Topical Growth Spurt
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Precocious Puberty- History
1. History: Timing, sequence of pubertal changes
2. Plot the growth curve
3. R/O injection/ingestion of hormone; topical cream
4. Family Hx of early puberty
5. History of CNS injury
6. Central symptoms - headache; vision
7. Peripheral symptoms - abdominal pain/distention
8. Family Hx consanguinity: CAH
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Precocious Puberty - O/E
1. Accurate documentation of pubertal changes
Breast - true tissue or fat, galactorrhoea
Pubic hair
Testicular size and mass
2. Facial acne
3. Apocrine smell
4. Abdominal mass
5. Signs of virilization - body hair, clitoral hypertrophy
6. CNS - Fundi, visual field defect
7. Skin - McCune-Albright syndrome: cafe-au-lait spots
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Preliminary Diagnosis and Investigation
Working diagnosis:
1. Isolated pubertal changes without acceleration of growth rate. i.e. premature thelarche or adrenarche
2. True central or peripheral precocious puberty - increased growth rate
INVESTIGATIONS:
Initial: Bone age Specialized: Sex hormone LHRH test CT/ MRI head, U/S or CT abdomen Test for CAH
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Congenital Adrenal Hyperplasia :CAH
Congenital enzyme deficiency - Resulting in deficiency of steroid productionMost common = 21 Hydroxylase deficiency
Autosomal recessive Gene coded on chromosome 6 (HLA)
Others - 11 or 17 hydroxylase
Presentations:1. Ambiguous genitalia (girls)2. Salt losing crises (boys)3. Precocious puberty (simple virilization)
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CAH - Con’t
Salt losing crisis
- Dehydration , Shock
- Na: 105-115mmol/l , K: 7-8mmol/l
- DDX - Sepsis, Renal failure
Treatment
- replace corticosteroid
- replace aldosterone
- monitor growth, BP, Na, K, 17 OH-P, Renin, +/-Bone age
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Diagnosis - case
Presentation
1) adrenal crisis (boys)
2) ambiguous genitalia( girls)
3) simple virilizing form CAH
(late onset CAH)
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Summary
1) Hyper & Hypothyroidism
2) Normal and abnormal puberty
- approach Hx/ exam and Rx
3) CAH - presentation and pathophysiology