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Endocrine

Theme : Endocrine A. Addison's disease B. Congenital adrenal hyperplasia C. Cushing's syndrome D. Diabetes insipidus E. Diabetes mellitus F. Hyperthyroidism G. Hypoparathyroidism H. Hypothyroidism I. Primary aldosteronism J. Septo-optic dysplasia Select the most likely diagnosis from the list above that would explain the presentations of the following patients: 1) An 11 year old boy who was previously fit and well presents to the GP with obesity and purple abdominal striae. His blood pressure is 140/90. C. Cushing's syndrome

2) A breast-fed baby presents with poor feeding. He has a hoarse voice and coarse facial features. Examination of the skull reveals wide sutures and a large anterior fontanelle.

J. Septo-optic dysplasia H. Hypothyroidism

3) A 7 year old girl with moderate learning difficulties presents with dry skin, alopecia and mucocutaneous candidiasis.

H. Hypothyroidism G. Hypoparathyroidism

Comments: Cushing's syndrome is a disorder due to high circulating cortisol levels either exogenous or endogenesis in origin. Clinical features include arrested growth, trunk obesity, hirsuitism, muscle wasting and mood changes. Purple striae are often seen. Laboratory investigations may reveal polycythaemia, abnormal glucose tolerance and high cortisol levels. 2-Congenital hypothyroidism is relatively common. Affected babies may have coarse facies, dry skin and a hoarse cry. Other features include hypotonia, umbilical hernia and constipation and prolonged jaundice. Blood tests reveal low T4 levels and a high TSH. In some infants brain development may be irreversibly damaged before birth however early detection may avoid permanent neurology sequelae. 3-Hypoparathyroidism in the neonatal period transient hypoparathyroidism occurs resulting in hypocalcaemia, possibly convulsions or apnoeic episodes. Hypoparathyroidism is rare. Features include headaches, vomiting, photophobia, cataracts, poor dentition and chronic diarrhoea. Investigations will

confirm low calcium and high phosphate levels. Theme : Endocrine A. Addison's disease B. Congenital adrenal hyperplasia C. Cushing's syndrome D. Diabetes insipidus E. Diabetes mellitus F. Hyperthyroidism G. Hypoparathyroidism H. Hypothyroidism I. Primary aldosteronism J. Septo-optic dysplasia Select the most likely diagnosis from the list above that would explain the presentations of the following patients: 1) A 14 year old girl presents with weight loss. She denies any dieting or use of laxatives. She also complains of polydipsia and has recently started wetting the bed. E. Diabetes mellitus

2) A 6 year old boy presents with fatigue and weight loss. He complains of abdominal pain and disturbed bowel habit. He is found to have a low blood sugar.

A. Addison's disease

3) A 6 month old baby with histiocytosis presents with vomiting weight loss and signs of dehydration.

D. Diabetes insipidus

Comments: 1-Diabetes mellitus results from insulin deficiency. Symptoms are characteristic and early features being polyuria, nocturnal enuresis, thirst, lethargy, weight loss and anorexia. Late symptoms include vomiting, abdominal pain and shock. 2-Addison's disease or adrenocortical failure has an auto-immune basis and may occur in association with other endocrine problems such as diabetes, hypoparathyroidism and thyroiditis. Clinical features include weakness, weight loss and increased pigmentation. Children may also have hypotension and hypoglycaemia. 3-Diabetes insipidus may be idiopathic or as a result of tumours, histiocytosis etc. It is due to a lack of anti-diuretic hormone and results in polyuria, polydipsia hypothermia, weight loss, constipation and poor growth. Treatment requires DDAVP.

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