Paediatric endocrinology Flashcards
Diabetes is one of the most common chronic diseases to be seen in children. T/F
True
What are the stages of development of type 1 diabetes?
Genetic predisposition
Beta cell pathology
Pre-diabetes (large number of beta cells still functioning)
Diabetes
What is the typical presentation of type 1 diabetes in children?
Polyuria Polydipsia Weight loss Enuresis Malaise Constipation Oral or vulvulal candida Blurred vision
What is the typical presentation of DKA?
Vomiting Nausea Abdominal pain Kussmaul respiration Pear drop breath Decreased consciousness Coma Death
What are the clinical signs of type 1 diabetes?
Fasting blood glucose >7
Random blood glucose >11
What are the clinical signs of DKA?
Ketonuria
Dehydration
Blood pH
What two questions are important to ask directly in a child with suspected diabetes?
Polyuria
Polydipsia
Should a child with suspected type 1 diabetes be immediately referred to secondary care?
Yes
How should suspected type 1 diabetes be investigated?
Random blood glucose
Urinalysis
How is DKA management in children different than management in adults?
Weight based
Careful fluid resuscitation
Insulin started one hour after IV fluids given
What is the risk with overenthusiastic fluid resuscitation in children with DKA?
Cerebral oedema
What are diabetic children routinely screened for?
Retinopathy (fundoscopy)
Microvascular (BP)
Nephropathy (albumin;creatinine ratio)
What is the effect of poor diabetes control in children?
Poor growth
Microvascular changes
Social and emotional
What are the early changes of microvascular disease in children with type 1 diabetes?
Microalbuminuria Cardiovascular autonomic neuropathy (postural hypotension) Retinopathy Sensory nerve damage Skin vascular changes Endothelial pathology Cheiroarthropathy
Which factors indicate high risk paediatric patients?
Not seen for over 6 months
High HbA1c
DKA admissions
Social work involvement
What are the primary causes of congenital thyroid disease?
Gland dysplasia +/- abnormal location
Inborn errors of metabolism
What are the secondary causes of congenital thyroid disease?
Congenital pituitary disease (hypopituitarism)
How does congenial thyroid disease present?
Delayed jaundice Weight gain despite poor feeding Hypotonia Umbilical hernia Constipation Skin & hair changes
How does congenial thyroid disease present?
Delayed jaundice Weight gain despite poor feeding Hypotonia Umbilical hernia Constipation Skin & hair changes
How is congenital thyroid disease screened for? How is this done?
Gunthrie test - blood spot on day 5 of life to measure TSH and T4
When should therapy of congenital thyroid disease be initiated?
Ideally within 2 weeks
2-3 months before cretinism
What is cretinism?
Permanent developmental delay
Why is there a window of opportunity for treatment?
Baby is protected by placental hormones
In what scenarios might acquired thyroid disease present in the young?
Delayed congenital Associated with type one diabetes Autoimmune Post-infection Iodine deficiency
How might hypothyroidism present in the young?
Delayed puberty
Growth failure
Educational difficulties
Goitre
How might hypothyroidism be investigated?
Thyroid function tests (TSH high and T3/4 low)
Thyroid antibody tests (high)
How is hypothyroidism treated?
Thyroxine for life
How is the dose of thyroxine determined?
By the child’s weight
Is hyperthyroidism common in the young?
No
How can hyperthyroidism present?
Eating and behavioural difficulties Sleep disturbance Goitre High pulse Precocious puberty
How might hyperthyroidism be investigated?
Thyroid function tests (low TSH and high T3/4)
Thyroid antibody tests (high)
How is hyperthyroidism treated?
Beta-blockers
For the first two years carbimazole +/- thyroxine
Surgery
Radio-iodine
What are the causes of primary underactive adrenal disease in the young?
Hypoplasia
Inborn error of metabolism
Congenital bilateral hyperplasia
What are the causes of secondary underactive adrenal disease in the young?
Pituitary
Suppression secondary to high dose/prolonged steroids
What are the causes of overactive adrenal disease in the young?
Cortisol therapy
Adrenal or pituitary cushing’s
How does an addison’s crisis present?
Low sodium, high potassium, hypovolaemia
How is an addison’s crisis treated?
Salt & cortisol
What are the common causes of ambiguous genitalia?
Adrenal hyperplasia
Steroid abnormalities
Gene/chromosome abnormalities
Congenital defects
