Searchable abstracts of presentations at key conferences in endocrinology

ea0050s4.3 | Pituitary disease in adolescents | SFEBES2017

Prolactinomas in adolescents

Drake William

Lactotroph pituitary adenomas (prolactinomas, PRLomas) are the most common form of functioning pituitary tumour. The vast majority can be managed successfully by means of medical (dopamine agonist) therapy; only a small minority require second-line therapy of surgical resection with or without adjunctive radiation. PRLomas occur in adolescent patients, but are unusual. Using a combination of illustrative case presentations and selective reference to informative publications, t...

ea0019s51 | Improving mortality and morbidity in pituitary disease | SFEBES2009

Does hormone replacement normalise life expectancy?

Drake William

Several reports indicate that hypopituitarism is associated with decreased life expectancy compared to age-matched healthy controls and that this mortality penalty exists despite ‘adequate’ or ‘satisfactory’ replacement with glucocorticoids, thyroid hormone and sex steroids. Almost coincident with these studies came a series of randomised, placebo-controlled trials, in which it was convincingly demonstrated that treatment of growth hormone deficient (GHD) a...

ea0055wa2 | Workshop A: Disorders of the hypothalamus and pituitary (I) | SFEEU2018

A complex case of diabetes insidipus in a patient with septo-optic dysplasia

Wu Xilin , Drake William

An 18 year old gentleman was first reviewed in our endocrine adolescent transition clinic. He had been under the care of the paediatricians since birth, where he initially presented with developmental delay. This triggered investigations which led to the diagnosis of septo-optic dysplasia. At aged 12 he developed cranial diabetes insipidus (DI) and secondary hypothyroidism. This was managed with intranasal DDAVP (20 ug BD) and thyroxine 125 μg. Due to an abnormal thirst t...

ea0055wa9 | Workshop A: Disorders of the hypothalamus and pituitary (I) | SFEEU2018

Acute onset DI in a young woman

Pittaway James , Drake William

A 31 year-old lady presented to clinic with an acute, three-week history of rapidly worsening polyuria and polydipsia. She described an eighteen month history of dysmenorrhoea with no galactorrhoea and reported no change in her vision. Her past medical history included alopecia areata one year previously from which she made a full recovery. Clinical examination was normal including full visual fields to red-pin confrontation. Biochemistry identified serum sodium of 141 mmol/l,...

ea0055we9 | Workshop E: Disorders of the adrenal gland | SFEEU2018

The case of a young man who originallypresented with severely derranged electrolyes aged four days

Jacob Peter , Drake William

We would like to present the case of a twenty-six year old gentleman whose first presentation to hospital was aged 4 days old. At that time he was thought to be generally unwell with poor feeding and excessively somnolent. During his resuscitation he was found to have extremely deranged serum electrolytes with sodium 122 mmol/l and potassium 14 mmol/l. His electrocardiogram (ECG) was initially noted to be bizarre, with no clear rhythm. After resuscitation with IV fluid, glucos...

ea0055wh3 | Workshop H: Miscellaneous endocrine and metabolic disorders | SFEEU2018

Somatostatin analogue therapy in a patient with von Hippel-Lindau disease and multiple pancreatic neuroendocrine tumours

O'Toole Sam , Drake William

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...

ea0048wa3 | Workshop A: Disorders of the hypothalamus and pituitary | SFEEU2017

Intolerance to dopamine agonists and the challenges of treating pituitary lactotroph macroadenomas in pregnancy

Gorrigan Rebecca , Drake William

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 ...

ea0048we1 | Workshop E: Disorders of the gonads | SFEEU2017

Complete androgen insensitivity syndrome and breastfeeding

Fraterrigo Gemma , Drake William

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 ...

ea0048wf1 | Workshop F: Disorders of the parathyroid glands, calcium metabolism and bone | SFEEU2017

A case of hypercalcaemia in Hyperparathyroidism-jaw tumour syndrome

Margari Niki , Drake William

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...

ea0048wh3 | Workshop H: Miscellaneous endocrine and metabolic disorders | SFEEU2017

Von Hippel–Lindau disease and pre-implantation genetic testing for in-vitro fertilisation

Goodchild Emily , Drake William

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...