Endocrine Abstracts

Case: A 21 year old gentleman presented to endocrine clinic with failure to develop secondary sexual characteristics. He had no growth since age 16, nor any change in voice, body hair or muscle or genital growth. Examination was in keeping with pubertal staging Tanner stage II. His right testicular volume was 5ml and left testicular volume 4ml. He had normal sense of smell. Investigations demonstrated low testosterone at 1.6 nmol/l (10-30). Results showed hypogonadotropic hypo...

Background: Euthyroid hyperthyroxinaemia can present a diagnostic challenge. Abnormalities in the binding proteins of thyroid hormones can cause this discordant picture of thyroid function tests, with thyroxine binding globulin being the protein most commonly affected. Familial dysalbuminaemic hyperthyroxinaemia is a rarer cause, and is an autosomal dominant condition which can present with euthyroid hyperthyroxinaemia. This condition is associated with a mutation in albumin w...

Background: Iodine deficiency is a well known cause of goitre and abnormal thyroid function but is rare in patients born in the UK. Iodine is primarily found in fish and dairy products and patients who avoid these foods may be at risk of iodine deficiency.Case: A 22 year old gentleman was referred to endocrine clinic with an unusual pattern of thyroid function tests (TFTs). He had a goitre on examination. He had a background of irritable bowel syndrome a...