8/13/2019 Endocrine Emq

1/2

Endocrine

Theme : Endocrine

A. Addison's diseaseB. Congenital adrenal hyperplasia

C. Cushing's syndromeD. Diabetes insipidusE. Diabetes mellitusF. HyperthyroidismG. HypoparathyroidismH. HypothyroidismI. Primary aldosteronismJ. Septo-optic dysplasia

Select the most likely diagnosis from the list above that would explain the presentations of thefollowing 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 pressureis 140/90.

C. Cushing's syndrome

2)A breast-fed baby presents with poorfeeding. He has a hoarse voice and coarsefacial features. Examination of the skullreveals wide sutures and a large anteriorfontanelle.

J. Septo-optic dysplasiaH. Hypothyroidism

3)A 7 year old girl with moderate learningdifficulties presents with dry skin, alopeciaand mucocutaneous candidiasis.

H. HypothyroidismG. Hypoparathyroidism

Comments:

Cushing's syndrome is a disorder due to high circulating cortisol levels either exogenous or endogenesisin origin. Clinical features include arrested growth, trunk obesity, hirsuitism, muscle wasting and moodchanges. 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 anda 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 irreversiblydamaged before birth however early detection may avoid permanent neurology sequelae.

3-Hypoparathyroidism in the neonatal period transient hypoparathyroidism occurs resulting inhypocalcaemia, possibly convulsions or apnoeic episodes. Hypoparathyroidism is rare. Features includeheadaches, vomiting, photophobia, cataracts, poor dentition and chronic diarrhoea. Investigations will

8/13/2019 Endocrine Emq

2/2

confirm low calcium and high phosphate levels.

Theme : Endocrine

A. Addison's diseaseB. Congenital adrenal hyperplasiaC. Cushing's syndromeD. Diabetes insipidusE. Diabetes mellitusF. HyperthyroidismG. HypoparathyroidismH. HypothyroidismI. Primary aldosteronismJ. Septo-optic dysplasia

Select the most likely diagnosis from the list above that would explain the presentations of the followingpatients:

1)A 14 year old girl presents with weight loss.She denies any dieting or use of laxatives. Shealso complains of polydipsia and has recentlystarted wetting the bed.

E. Diabetes mellitus

2)A 6 year old boy presents with fatigue andweight loss. He complains of abdominal painand disturbed bowel habit. He is found to havea 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 beingpolyuria, 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 associationwith other endocrine problems such as diabetes, hypoparathyroidism and thyroiditis. Clinical features

include weakness, weight loss and increased pigmentation. Children may also have hypotension andhypoglycaemia.

3-Diabetes insipidus may be idiopathic or as a result of tumours, histiocytosis etc. It is due to a lack ofanti-diuretic hormone and results in polyuria, polydipsia hypothermia, weight loss, constipation and poorgrowth. Treatment requires DDAVP.