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Paediatrics > Endocrine > Flashcards

Endocrine Flashcards

1
Q

Presentation of congenital adrenal hyperplasia in males and females

A

Females present with virilised in postnatal period, precocious puberty or ambiguous genitalia.
Males present commonly with salt wasting crisis = vomiting, weight loss, lethargy, dehydration, hyponatraemia and hyperkalaemia.

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2
Q

Pathophysiology of congenital adrenal hyperplasia

A

Autosomal recessive genetic inheritance of mutations for cortisol biosynthesis.
Causes adrenal insufficiency which leads to underproduction of glucocorticoids and overproduction of adrenal androgens.

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3
Q

Potential pre-natal management of suspected congenital adrenal hyperplasia

A

Maternal dexamethasone

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4
Q

Investigations for congenital adrenal hyperplasia

A

U + E = low sodium, low bicarbonate, low urea, high potassium
Hypoglycaemia.
Metabolic acidosis with uncompensation (salt wasting crisis)
Low cortisol and high ACTH.

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5
Q

Salt wasting crisis - cause and presentation

A

For congenital is due to 21-hydroxylase deficiency - not enough aldosterone, unable to retain sodium. Appear within weeks of birth.
Dehydration, poor feeding, diarrhoea, vomiting, low BP, arrhythmia, brown pigmentation, weight loss, shock. Metabolic acidosis, hyponatraemia and hyperkalaemia.
More prone in males as harder to diagnose at birth than in females.

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6
Q

Acute management of salt-wasting crisis

A

IV hydrocortisone to replace cortisol.
Fludocortisone for mineralocorticoid replacement.
Salt replacement

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7
Q

Causes of primary adrenal insufficiency

A 
Autoimmune - Addison's
Congenital adrenal hyperplasia
Surgical removal
Infection - HIV/Syphilis/TB
Haemorrhage/infarction
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8
Q

Causes of secondary adrenal insufficiency

A

Hypothalamic neoplasm, surgery.
Iatrogenic - long term steroids, ketoconazole, fluconazole.
Congenital pituitary aplasia
ACTH deficiency.

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9
Q

Test for congenital hypothyroidism

A

Guthrie test - looks for raised TSH

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10
Q

Causes of congenital hypothyroidism

A

Maldescent of the thyroid
Dyshormonogenesis (poor T hormone synthesis)
Iodine deficiency
TSH deficiency

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11
Q

Symptoms of congenital hypothyroidism

A 
Hard to pick up in neonates as can look normal.
Failure to thrive
Feeding problems
Prolonged jaundice
Constipation
pale, cold, mottled, dry skin
Large tongue
Hoarse cry
Delayed development & learning difficulties - cretinism
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12
Q

Treatment of congenital hypothyroidism

A

Life long oral replacement of thyroxine.

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13
Q

Causes of paediatric hyperthyroidism

A

Graves Disease - autoimmune thyroiditis, antibodies that stimulate the thyroid-stimulating hormone (TSH). Commonly presents in teenage girls.

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14
Q

Clinical signs of Graves Disease/Hyperthyroidism

A 
Anxiety
Increased appetite
Sweating
Diarrhoea
Weight loss
Tremor
Advanced bone age
Rapid height growth
Goitre and bruit on examination
Tacycardia
Warm, vasodilator peripheries
Eye signs less common in childhood presentation (lid lag, lid retraction, exophthalmos)
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15
Q

Investigations for Graves Disease

A

Thyroid-stimulating hormone receptor antibodies (TSH-RAb)

High T3 and T4, Low TSH

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16
Q

Treatment for Graves Disease

A

Antithyroid drug treatments (carbimazole and propylthiouracil).
Thyroidectomy
radioiodine therapy

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17
Q

DiGeorge Syndrome

A

Congenital hypoparathyroidism, presents in babies and infants. Thymic aplasia, poor immunity, cardiac defects, facial abnormalities.

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18
Q

Other cause of hypoparathyroidism

A

Autoimmune with Addison’s disease. Presents in older children.

19
Q

Pseudohypoparathyroidism

A

End-organ resistance to effects of parathyroid hormone. Normal levels of PTH, abnormal calcium and phosphorus

20
Q

Hyperparathyroidism causes in children

A

In infants = William Syndrome from genetic mutations.

In older children = Multiple endocrine neoplasia syndromes

21
Q

Cushing’s syndrome pathogenesis

A

Excessive cortisol (glucocorticoid) secretion from adrenals due to excessive ACTH secretion from pituitary or independent overproduction from adrenals.

22
Q

Causes of Cushings

A

Exogenous - glucocorticoid drug use e.g. asthma, nephrotic syndrome.
Endogenous - pituitary adenoma (secretes ACTH), Ectopic ACTH secreting tumours.

23
Q

Clinical features of Cushing’s

A 
Short stature
Face and trunk obesity = moon face
Red cheeks
Striae
Hypertension
Bruising
Muscle wasting and weakness
Osteopenia
Gonadal dysfunction - PCOS, Hirsutism.
Carbohydrate intolerance and can lead to diabetes mellitus.
24
Q

Investigations for Cushings

A

Overnight dexamethasone suppression test. Cushings patients will not lower cortisol.
Second line investigations may be higher dose dexamethasone tests for longer time, midnight cortisol levels (will be high in Cushing’s)
Braim imaging to find pituitary tumour (CT/MRI)

25
Q

Management of Cushings

A

Stop iatrogenic medications

Remove pituitary adenoma or ectopic tumour

26
Q

Disease detected in newborn screening test (Guthrie’s)

A

Cystic Fibrosis
Sickle Cell Disease
Congenital Hypothyroidism
Metabolic disorders e.g. Phenylketonuria

27
Q

Phenylketonuria

A 
Untreated = developmental delay, fine hair, eczema, seizures, smell/odour.
Rx = restrict dietary phenylalanine.
28
Q

Normal ranges of fasting and post-prandial plasma glucose

A

Fasting = 3.5-5.6mmol/l

Post prandial = less than 7.8mmol/l

29
Q

Diabetes fasting, OGTT and HbA1c results

A 
Fasting = greater or equal to 7.0mmol/l
OGTT = greater or equal to 11.1mmol/l
HbA1c = greater than 6.5%
30
Q

Pre-diabetes fasting, OGTT and HbA1c results

A 
Fasting = less than 7.0mmol/l
OGTT = between 7.8 and 11.0mmol/l
HbA1c = between 5.7 and 6.4%
31
Q

Action of insulin

A

Increase glucose uptake from blood
Glycogen synthesis
Lower glyconeogenesis and glycogenolysis
Lower blood sugar levels.

32
Q

Pathophysiology of type 1 DM

A

increased plasma glucose and ketone levels.
Gluconeogenesis
Glucogenolysis
Ketogenesis

33
Q

Early presentation of type 1 DM

A 
2 peaks = preschool and teenagers.
Polydipsia
Polyuria and enuresis (nocturnal)
Weight loss
Infections esp Candida
Aconthosis ingrains in axilla
Fatigue
34
Q

Presentation of diabetic ketoacidosis

A 
Hyperglycaemia, acidosis, and ketonaemia.
Acetone smell on breath
Vomiting
Dehydration
Abdo pain
Hyperventilation
Shock (hypovolaemic)
Drowsy
Cerebral oedema
Coma --> death
35
Q

Investigations for DKA

A 
Glucose greater than 11.1mmol/l
blood ketones greater than 3.0mmol/l
U+E
Creatinine
ABG (metabolic acidosis)
Urine dip shows glucose and ketones
36
Q

Management of DKA

A

Fluids - less is given in DKA to avoid risk of cerebral oedema. around 10ml/kg.
Insulin - 0.05-0.1units/Kg/hr after 1-2hrs of starting fluids, do not give bolus!
Potassium -
Monitor neuro obs, U+E (esp potassium and ketones) blood glucose
Fluid balance

37
Q

Fluids for paed DKA

A

Reduced volume to avoid cerebral oedema. Bolus of 10ml/Kg

38
Q

Hypoglycaemic presentation

A 
Autonomic = irritable, anxious, hungry, sweats, nausea, shakes, palpitations, pallor
Neuro = dizzy, headache, confused, drowsy, poor concentration, convulsions, loss of hearing and vision, slurred speech, LOC
39
Q

Management of hypoglycaemia

A

If mild - try giving glucose tablets, lucozade, glucogel.
Use rapidly absorbed sugar not fatty foods.
Intravenous glucose e.g. 10% dextrose
Intramuscular glucagon (0.5-1mg)

40
Q

Long term treatment of Type 1 DM

A

MDT
Intensive education with child and family on diet, exercise BM monitoring, recognition of hypo/DKA, signposting.
Insulin regime e.g. basal-bolus with long-acting Glargine in am or pm and short-acting Lispro before snack.

41
Q

Targets for type 1 DM

A

pre-prandial plasma glucose of 4-7mmol/l
post-prandial plasma glucose of 5-9mmol/l
HbA1c of less than 48mmol/mol or 6.5%

42
Q

Impact of diabetes on an adolescent

A 
Delayed sexual maturation
Strict meals
Frequent injections
Parental over-protection
Insurance premiums
Invasion of privacy with constant medical examinations
Discrimination by employers
Impaired body image
43
Q

Cryptorchidism

A

Undescended testes.

Increased risk of germ cell tumours

Paediatrics (16 decks)

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