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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.

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

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.

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