What is the incidence of congenital hypothyroidism?
1 in 4000 births
Why is it important to screen for congenital hypothyroidism?
It is preventable cause of severe learning difficulties
What can cause congenital hypothyroidism?
- Iodine deficiency
- Athyriosis
- Dyshormonogenesis
- Maldescent of the thyroid
- TSH deficiceny
What are the features of congenital hypothyroidism?
Usually asymptomatic and picked up on screening
- Faltering growth
- Feeding problems
- Prolonged jaundice
- Constipation
- Pale, cold, mottled dry skin
- Coarse faces
- Large tongue
- Hoarse cry
- Goitre
- Umbilical hernia
- Delayed development
What test can pick up congenital hypothyroidism?
Guthrie test
How would you treat congenital hypothyroidism?
Thyroxine - 2-3 weeks of life
Important to reduce neurodevelopmental delay
What can causes acquired hypothyroidism in children?
- Autoimmune thyroiditis
- Down’s Syndrome
- Turner Syndrome
What can cause hyperthyroidism in children?
Grave’s disease - autoimmune
How does hyperthryroidism present in children?
- Anxiety, restlessness
- Increased appetite
- Sweating
- Diarrhoea
- Weight loss
- Rapid growth in height
- Advanced bone maturity
- Tremor
- Tachycardia, wide pulse pressure
- Warm peripheries
- Goitre
- Learning difficulties
- Psychosis
- Eye symptoms
What eye symptoms would you see in hyperthyroidism?
- Exopthalmous
- Opthalmoplegia
- Lid Retraction
- Lid Lag
What is congenital adrenal hyperplasia?
A family of autosomal recessive genetic disorders causing decreased activity of any of the enzymes involved in the synthesis of cortisol from cholesterol.
What is the most common cause of congenital adrenal hyperplasia?
21-hydroxylase deficiency
How does congenital adrenal hyperplasia present?
- Virilisation of female genitalia - clitoral hypertrophy and labial fusion
- Enlarged male genitalia
- Adrenal crisis
- Tall stature
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Paediatric Assessment, History Taking and Examination64
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Developmental Assessment101
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Respiratory Infection in Children98
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Gastrointestinal165
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Asthma in Children51
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The Febrile Child33
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Rheumatology45
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Cardiology86
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Surgery50
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Urology84
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Dermatology0
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Infection4
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Diabetes37
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Growth and development82
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