Endocrine Abstracts

A 52-year-old male patient first presented in 2007 with symptoms of polyuria, polydipsia and muscle pains. Initial investigations revealed a corrected Ca2+: 3.45 mmol/l and PTH: 168 pmol/l. He was also vitamin D depleted so a diagnosis of severe primary hyperparathyroidism on a background of vitamin D deficiency was made and further investigations were requested to confirm the diagnosis. Unfortunately, the patient failed to attend all subsequent follow up appointmen...

Case history: Von Hippel–Lindau disease (VHL) was confirmed in this 36 year old gentleman when he was 13. His father’s diagnosis of metastatic renal cell carcinoma (RCC) and paragangliomas prompted genetic testing and revealed mutation c.499C>T p. (Arg167Trp) which is associated with type 2B VHL in this patient and his sister. Shortly after diagnosis, bilateral phaeochromocytomas were resected with a bilateral adrenalectomy. At age 17, the patient developed tinni...

Case history: This 32 year old lady developed anterior and posterior pituitary failure following chemotherapy, radiotherapy and bone marrow transplant for acute lymphoblastic leukaeamia in childhood and subsequent CNS recurrence. During her teens, she required GH replacement with which she was poorly compliant. She had a mastectomy and currently takes hormonal treatment for oestrogen receptor positive T2N1M1 breast cancer, which is possibly a consequence of her total body irra...

A 35 year old lady presented to endocrine services with a background of attempted conception and oligomenorrhoea. Presenting features were typical of acromegaly including sweating, acne and median nerve entrapment. Growth hormone day curve showed unrelenting high levels of growth hormone. Serum IGF-1 was elevated at 154 nmol/l (normal 14.2–36.9). Other pituitary blood tests were within normal limits. A pituitary macroadenoma measuring 1.5×1.5×1.3 cm was found on...

31 year old lady was referred to the endocrine clinic by her GP in August 2008. She had 1 year history of galactorrhoea, 4 months history of irregular periods and intermittent short lived severe headache in the right temporal area without visual disturbance. Her investigation showed a prolactin level of 900 mmol/l, subsequent MRI scan confirmed the presence of right-sided pituitary adenoma of around 1 cm in size with evidence of recent haemorrhage in to it and normal other pit...

A 29-year-old gentleman known to the pediatric endocrinologist for non-mosaic Klinefelter’s (XXY) syndrome. The diagnosis was made opportunistically when a karyotype was organized following his presentation at age of 4 years with delayed developmental milestone. He went through puberty spontaneously and was transitioned to adult endocrinologist in September 2005. At the time he did not have symptom of hypogonadism but did have elevated gonadotropins in keeping with the di...

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...