Endocrine Abstracts

The Royal College of Physicians (RCP) published a report called Referring Wisely in June 2017. The report asked specialty physicians for a short list of conditions they felt would benefit from specialist input in the context of acute inpatient management (recommended referrals). It also asked for a list of conditions which need not be referred (avoid referrals).Methods: We retrospectively audited inpatient referrals from our electronic inpatient referral...

Choriogonadotrophin-alpha (Cga) is one of the first molecular markers for the developing pituitary gland previously known as ‘alpha-subunit’, common to thyroid-stimulating hormone (TSH), luteinising hormone (LH) and follicle-stimulating hormone (FSH). Mice lacking Cga are hypogonadal and exhibit profound hypothyroidism and dwarfism. Light microscopy of Cga null mice has shown that pituitary thyrotrophs...

The Royal College of Physicians (RCP) published a report called Referring Wisely in June 2017. The report asked specialty physicians for a short list of conditions they felt would benefit from specialist input in the context of acute inpatient management (recommended referrals). It also asked for a list of conditions which need not be referred (avoid referrals).Methods: We retrospectively audited inpatient referrals from our electronic inpatient referral...

Background: The choice of hydrocortisone (HC) formulation for children with adrenal insufficiency necessitates considerations for dose accuracy, palatability, and practicality in everyday life to optimise medicine adherence and health outcomes. Recently, several diverse new formulations have become available in the UK, but no information is available on real-life patient preferences for the different formulations.Objectives: Explore patient and parent ex...

Case history: A previously asymptomatic 58-year-old gentleman presented following an out-of-hospital cardiac arrest, precipitated by multiple, bilateral pulmonary emboli.Investigations: In the course of investigation, a 35 mm, MIBG-negative, right adrenal lesion was discovered. Functional adrenal tests revealed significantly elevated normetanephrine and 3-methoxytyramine levels. Severe hypertension and type 2 diabetes were concurrently diagnosed.<p c...

Approximately 20% of women with Turner syndrome (TS) proceed normally through puberty with spontaneous menstruation. An increasing number of women with TS are taking advantage of oocyte cryopreservation which is becoming widely available. It may be expected however, that controlled ovarian stimulation would result in fewer than expected number of oocytes compared to women without TS. We report our initial results from women with TS undergoing this procedure.<p class="abste...

Introduction: Neonatal hypoglycaemia (NH) is a well-recognized cause of adverse neurological outcomes. While hypoglycaemic brain injury is well reported in the literature there is limited data on the effect of neonatal hypoglycaemia solely with other risk factors for brain injury excluded. The aim of study was to evaluate the long-term outcome in patients with a history of symptomatic NH and no other risk factors of brain injury.Methodology: This retrosp...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

Introduction: Vitamin D deficiency/insufficiency in patients with primary hyperparathyroidism may be associated with more severe and progressive disease. In such patients there is higher levels of parathormone and markers of bone turnover, large parathyroid adenomas and more frequent fractures than vitamin D replete patients.Aims and objectives: To determine whether vitamin D repletion of patients with PHPT and co-existing vitamin D insufficiency or defi...