Endocrine Abstracts

We present a 70-year-old female who was initially referred to the endocrinology clinic for an assessment of her type 2 diabetes mellitus. She has a complex medical history including treated hypothyroidism, mastectomy for breast cancer and ongoing yearly surveillance for an excised benign lung lesion. On further questioning she acknowledged feeling generally unwell in the days prior to her appointment and had self-presented to the emergency department with undiagnosed hypertens...

Thyroid cancer is the most common endocrine malignancy with an increasing incidence globally predominantly due to the papillary thyroid carcinoma subtype. It is the 17th and 20th most common malignancy in females and males respectively. In 2018, Cancer Research UK reported 3865 new cases and 400 deaths. Mortality rates are predicted to continue to rise in the UK with an estimated rate of 1 per 100,000 deaths in 2035. We present a 42-year-old female who pr...

Case history: An 18 year old male student presented to the dentist with an eight week history of left-sided facial pain and swelling. He was subsequently referred to the maxillofacial team. His only previous medical encounter was for a traumatic right humerus fracture following a roller-skating injury. He took no regular medication. His father died of an unknown malignant process several years previous and family history was otherwise unremarkable. On questioning, the patient ...

Approximately 40% of phaeochromocytomas and paragangliomas (PPGL) are associated with a germline mutation. These individuals have a lifetime tumour risk and in the case of SDHx germline mutations, there is a risk of multiple tumours and malignancy. We sought to discover plasma metabolites associated with succinate dehydrogenase (SDH) deficiency and tumorigenesis for potential use as predictive and/or prognostic biomarkers. Plasma samples were collected prospectively from a cli...

Background: International consensus supports interval biochemical and imaging surveillance for all asymptomatic carriers of succinate dehydrogenase (SDHx) gene mutations and patients with a history of SDH deficient tumours. There is growing awareness that the life time penetrance of the SDHx genes is much lower than that originally estimated and that long term radiological surveillance carries a significant risk including ionizing radiation exposure and incidental findings. Th...

Case history: A 41 year old female was admitted following development of severe hypertension (226/146 mmHg), complicated by heart failure and acute kidney injury. She otherwise had no relevant past medical history. On clinical examination she was obese (BMI 51.94 kg/m2). As part of her cardiac investigations, she underwent a cardiac magnetic resonance imaging (MRI) which detected a 3 cm right sided adrenal nodule. An adrenal biochemical screen identified an elevated...

Peptide receptor radionuclide therapy (PRRT) is a targeted therapy using synthetic somatostatin analogues attached to a radionuclide, which binds to tumours expressing somatostatin receptors. The aim was to review the role of PRRT in a tertiary referral centre. We retrospectively reviewed a cohort of 25 patients (eight males, 17 females), with a median age of 65, who received Yttrium-90 DOTATATE or Lutetium-177 DOTATATE at Addenbrookes Hospital. The location of the primary tum...

Primary hypoparathyroidism is a rare condition. Contrary to other endocrine deficiencies treated with hormone replacement, recombinant parathyroid hormone (PTH) is not currently licensed for its treatment in Europe. Emerging evidence of efficacy and safety of recombinant PTH in treating resistant hypoparathyroidism will hopefully provide a new tool in managing this challenging condition.This is the case of a 45 year-old woman presenting with gradually wo...

Acromegaly is a rare condition resulting from excess secretion of GH and IGF1. Acromegaly is frequently associated with subfertility. As such there is little data on the course of the disease during pregnancy, and of the effects of the disease and its treatments on the foetus.Objective: We describe known pregnancies in women with acromegaly within the Republic of Ireland over a 15-year period.Methods: We collected clinical, biochem...

The UK Turner Study examined in girls with Turner syndrome (TS) the impact on final height (FH) of Oxandrolone (Ox) and/or delayed pubertal induction (14y).Methods: Girls with TS aged 7–13y receiving GH were randomised to Ox (0.05 mg/kg per day, max. dose 2.5 mg/day) or placebo from 9y (or from enrolment if >9y). Girls requiring oestrogen were further randomised to begin oral Ethinylestradiol (E2) (Y1:2 μg/day; Y2:4 μg/day; ...