Endocrine Abstracts

This gentleman originally presented at the age of 60 years old with slurred speech, confusion and cerebellar signs and was found to have raised calcium and PTH. His sisters, son and daughter were known to have hyperparathyroid-jaw tumour syndrome (HPT-JT) due to a novel germline Leu63Pro missense mutation in CDC73 exon 2. An MRI brain identified cerebellar lesions and he had positive voltage gated potassium channels; both of indeterminate aetiology follo...

Background: General Medical Council (GMC) guidance describes an intimate examination as one that may be embarrassing for the patient, for example, breast or genitalia examination. Documentation of consent and use of a trained impartial observer (chaperone) is recommended for intimate examinations. Pubertal staging is often necessitated for assessment of growth and puberty. We assessed current practice in pubertal staging by paediatricians and paediatric endocrinology nurse spe...

Case History: A 37 year-old gentlemen was referred to metabolic bone clinic due to recurrent recent fragility fractures. He had several fractures throughout childhood, and these had continued to occur into his adult life. He was blind in his left eye since birth. He felt that this had contributed to his fractures, due to falls. There had been no other previous major health problems. His brother had a similar eye condition. There were no other risk factors for osteoporosis. The...

Case History: A 37-year-old gentlemen was referred to metabolic bone clinic due to recurrent recent fragility fractures. He had suffered several fractures throughout childhood, and these had continued to occur into his adult life. He was blind since birth in his left eye. He felt that this had contributed to his fractures due to falls and other accidents. There had been no other major health problems in the past. His brother had a similar eye condition. There were no other ris...

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 59 year old lady attended endocrinology clinic for her annual review. She had presented at the age of 28 years with symptomatic hypoglycaemia. She was diagnosed with an insulinoma and underwent resection of the tail of the pancreas. She was concurrently found to be hypercalcemic and underwent two gland parathyroidectomy. Genetic testing confirmed a heterozygous frameshift mutation in exon 3 of the MEN1 gene (c.628_631 del.) and a diagnosis of multiple endocrine neoplasia typ...

Introduction: Non-functioning pituitary adenomas (NFPAs) constitute a large proportion of pituitary adenomas and can lead to hypopituitarism and visual field defects. Trans-sphenoidal surgery is the treatment of choice but as a consequence patients may suffer from long-term hormone deficiencies and diabetes insipidus. We sought to examine clinical, pathological, and imaging characteristics of those presenting with NFPAs and subsequent post-surgical outcomes.<p class="abste...

Introduction: Transgender medicine is a rapidly expanding field and GPs have historically played a vital role in prescribing hormones therapies for those with gender incongruence. Despite this, some GPs are refusing to prescribe medication recommended by the Gender Identity Clinic (GIC) in London. This problem is persisting despite the GMC guidance that prescribing is the GPs responsibility. The aim of this audit was to establish reasons why GPs are refusing and if there were ...

Introduction: Dyslipidaemia and diabetes mellitus have a complex relationship. Uncontrolled diabetes can result in hypertriglyceridaemia through decreased adipose tissue and muscle lipoprotein lipase activity. Conversely, insulin resistance and diabetes can occur in association with primary familial hyperlipidaemia. Eruptive xanthomas can be a presenting feature of the severe hypertriglyceridaemia found in familial hyperlipidaemia.Although there are repo...

An MDT approach to facilitating a workable transition between paediatric and adult services for young people with T1 and T2 diabetes. Management of young people with T2 diabetes is an emerging field that provides new challenges to the healthcare team in enabling young people to live with a lifelong condition that may also be affecting the wider family. Our service is delivered across two sites looking after young people with diabetes aged between 14–19 years in paediatric...