Endocrine Abstracts

A 34-year old female with type 1 diabetes presented to the antenatal clinic complaining of polydipsia, polyuria and nocturia. She was 12 weeks pregnant with adequate glycaemic control on a basal-bolus insulin regime. She reported new onset headaches but no deterioration in vision. On examination, her visual fields were full to confrontation with red pin. She was eunatraemic (Na 138 mmol/l), had an early morning cortisol of 332 nmol/l and normal thyroid function tests (FT4 16 p...

A 22 year old man was referred to the endocrine unit at St Barts following an abnormal visual field test with his optician and subsequently with ophthalmology at Moorfields eye hospital. At presentation he was noted to be very tall (194 cm), with facial features of growth hormone excess. Despite starting puberty at the age of 12–13 he had experienced continued vertical growth - he was the tallest in his family and his parents had commented that he was continuing to grow, ...

A three year old boy was referred for surgical correction of an undescended right testis. Intra-operatively he was found to have a hyperplastic right gonad which was in continuation with a unilateral fallopian tube, prompting analysis of his karyotype. This showed 46XX/XY mosaicism with 88% of the cells being XX and 12% XY. The post-operative histology confirmed mixed testicular and ovarian tissue in the right gonad. He appeared phenotypically male and had blaschko lines consi...

A 49 year old Russian lady was found to have an elevated testosterone level (9 nmol/l) when investigated for hair loss. This was first detected some years ago when she apparently was given a provisional diagnosis of polycystic ovarian syndrome. When assessed in her local endocrine unit she did not report any excessive body hair growth or symptoms of virilisation. She claimed to reach the menopause aged 45 years and reported a family history of early menopause. Initial blood te...

A 31 year old female presented to the Endocrine day ward due to headache and dizziness in 2015. She had a background of childhood acute lymphoblastic leukaemia diagnosed at age 7 treated with chemotherapy. She had a cerebral recurrence at age 10 and underwent cerebral radiotherapy, further chemotherapy and subsequently total body irradiation and bone marrow transplant. Following this treatment she was diagnosed with panhypopituitarism and required hormone replacement therapy w...

In 2009 a 39 year old gentleman presented to the Endocrine clinic with symptoms, signs and biochemistry consistent with severe glucocorticoid excess (urinary free cortisol level was significantly raised at >1380mol/24 hours, normal up to 124; early morning cortisol levels varying between 760nmol/land 1225nmol/lwith failure of suppression on a low dose dexamethasone suppression test). An ACTH level taken at this time was 43ng/l. He underwent an MRI pituitary gland which sho...

Case history: A 19 year old lady presented with amenorrhoea, fatigue and headaches. She had normal pubertal growth spurt with an appropriate height for mid-parental height. Her menarche was at age 17, another bleed at 18 but amenorrhoeic since. There was right sided galactorrhoea only on expression. In her teens she had an eating disorder, periods of self-harm and low mood. No treatment except for St. John’s Wort occasionally. No visual disturbance was present.<p clas...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

Case history: A 72 year old gentleman from Zimbabwe presented to clinic with MRI pituitary findings of 1.5×1.4×1 cm pituitary macroadenoma. This had been discovered incidentally during outpatient investigation for severe headaches refractory to standard analgesia at another hospital. The mass was in contact with but not compressing the optic chiasm. He did not describe any visual loss. He had an unintentional weight loss of 10 kg in the last 2 months. He described de...

Urine free cortisol (UFC) is analysed in 24 h urine collections in suspected Cushing’s syndrome, and provides an integrated measure of cortisol secretion over the whole day. The aim of this audit was to review how clinically useful UFC results were, and whether this analytical service was still justified. The current automated immunoassay with manual sample preparation was time-consuming, expensive (disproportionate quality control / external quality assessment (EQA) samp...