Endocrine Abstracts

The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. Understanding of PRLR signalling is incompletely defined, with progress hampered by a lack of reported disease-associated variants in the genes for the prolactin hormone (PRL) and/or PRLR. To date, two common germline PRLR variants are reported to demonstrate constitutive activity, with one, Ile146Leu, ...

Background: Glycaemic control and duration of diabetes mellitus play an important role in delaying or preventing diabetic retinopathy. NICE guidelines state that for type 1 diabetes, those aged 12 years and over must be offered annual retinopathy screening. This audit aims to assess compliance with the guidelines and the prevalence of retinopathy.Methods: This was a retrospective audit of paediatric diabetic patients registered to Good Hope Hospital atte...

Mutations of the cell division cycle 73 (CDC73) gene, which encodes the 531 amino acid protein parafibromin, are associated with the Hyperparathyroidism-Jaw Tumour (HPT-JT) syndrome, an autosomal dominant disorder characterised by parathyroid tumours and ossifying jaw fibromas. In addition, ∼75% of women with HPT-JT develop benign and malignant uterine tumours, which include endometrial hyperplasia, adenosarcomas, adenofibromas, and leiomyomas. To explore the role of <em...

Investigation of parathyroids in mouse models is hampered by difficulties in identifying the small glands. We developed a microsurgical technique to identify murine parathyroids by dissecting from the distal thyrothymic ligament to the lower thyroid pole (LTP). Parathyroids were identified in 100 mice which comprised: 48 mice deleted for a cell-division-cycle 73 gene allele (Cdc73+/−), involved in the hyperparathyroidism-jaw tumour syndrome; ...

A young fit male readmitted with three weeks history of malaise, pale stool, dark urine, pruritus with recent travel to Greece. He denied alcohol, illicit drug abuse. Examination revealed jaundice.Investigation showed cholestatic liver impairment with Bilirubin: 448 μmol/l (7-35), ALT: 134 IU/l (17–63), ALP: 190 IU/l (32–91), HDL 0.34 mmol/l (>0.9). Viral Screen, autoantibody, porphyria and tumour markers were negative. CT Abdomen show...

Aim: Retrospective survey on outcomes of 131I therapy in subjects with hyperthyroidism.Methods: We analysed the outcomes at 1 year, of 55 episodes of 131I therapy in 52 patients (36 males, 15 females) who were treated between January 2007 and January 2009.Results: At 1 year post 131I therapy, 31 (56.3%) subjects were hypothyroid (median age 54 years), 14 (25.5%) were euthyroid (median age 69 years) ...

The Multiple Endocrine Neoplasia type 1 (MEN1) gene is located on chromosome 11q13 and patients with mutations develop parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different families, can cause either FIHP or MEN1. This emphasises the importance of genetic background in altering the expression of a mutation, and suggests the presence of genetic ...

Introduction: The newly proposed RCOG guidelines suggests dose increment of thyroxine based on prenatal thyroxine doses. The aim of our retrospective audit was to assess if the aetiology of hypothyroidism (and dose of thyroxine) prenatally could help predict the need for dose increment during pregnancy.Methods: n=100. Local guidelines advised maintaining TSH <2.5 throughout pregnancy. Outcomes of thyroxine a...

Case history: A 52 year-old lady was seen for further assessment of primary hyperparathyroidism (PHPT). She complained of intermittent symptoms of bloating but was otherwise asymptomatic. She was menopausal on hormone replacement therapy (HRT) and had started lithium for bipolar disorder 4 years ago. She had no known history of nephrolithiasis and no history of fractures. Her past medical history included Hodgkin’s lymphoma treated with chemotherapy 14 years ago, bipolar ...

Introduction: Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterised by refractoriness of target tissue to thyroid hormone. Over 80% of cases are due to mutations in the thyroid hormone receptor beta (THR β) gene with over 100 mutations identified to date. The clinical manifestations vary from common feature as goitre to less common sinus tachycardia, learning disabilities, growth and developmental delay. Aim: We rep...