Endocrine Abstracts

Case history: An 11 year old girl was diagnosed with von Hippel-Lindau disease (VHL) on cascade genetic screening due to a positive family history and was enrolled in a VHL surveillance programme. She developed bilateral phaeochromocytomas and underwent staged bilateral adrenalectomies at the age of 12 and 14. At the age of 16, she was discovered to have a 2.5 cm tail of pancreas pancreatic neuroendocrine tumour (pNET) on routine surveillance imaging. This enlarged during foll...

A 36 year old lady presented to the endocrine clinic with a 4 month history of secondary infertility, amenorrhea, galactorrhoea and headaches. She had stopped breast-feeding her 5th child 18 months previously and was not taking any antidopaminergic drugs. She had a normal neuro-ophthalmic examination, including full visual fields to confrontation with a red pin. Her prolactin was elevated at 5690 mU/l and MRI pituitary confirmed a 17 mm partially cystic macroadenoma which was ...

A 37-year-old lady with complete androgen insensitivity syndrome (AIS, 46,XY) presented with the desire to breastfeed her first child during the pregnancy of a surrogate mother. Her past medical history included thyrotoxicosis initially treated with block-and-replace regime, followed by multiple relapses, and definitive treatment with radioactive iodine ablation. There was a family history of complete androgen insensitivity syndrome (two sister out of four) and one sister had ...

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 31-year-old Caucasian male with chronic fatigue syndrome and additional symptoms of abdominal pain and diarrhoea, was referred by his neuro-gastroenterologist for investigation of possible carcinoid tumour after finding a raised 24 h urinary 5HIAA level – 220 μmol/24 h (normal range <50 μmol/24 h).Full blood count, urea and electrolytes, liver function tests, plasma and urinary catecholamines were all within normal range.<p class...