Endocrine Abstracts

IGF-1 generation tests (IGF-1GT) have been used extensively in children to investigate growth hormone (GH) responsiveness. To help understand differences in the GH/IGF-1 axis in health and disease in adulthood interest has turned to the use of the IGF-1GT in adults. Different designs of IGF-1GT have been used with no clear evidence delineating which is the most sensitive to describe subtle changes in GH responsiveness. In order to design an IGF-1GT we have performed the first ...

Background: In GHD adults short-term studies of GH replacement have been reported to improve several aspects of quality of life, in particular energy levels. Only one study to date has examined whether this beneficial effect on QoL is maintained on long-term replacement of greater than five years. Patients & Methods: In 1992 six-twelve months GH replacement was offered to severely GHD adults as part of a randomised placebo controlled study. At baseline 86 pat...

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence or underdevelopment of the uterus and upper two thirds of the vagina in females with karyotype XX, alongside normal external genitalia. The prevalence is 1 in 4000 to 5000. It can be divided into two major categories. Type 1 occurs in isolation whilst type 2 involves other organ systems, particularly the renal, vertebral, auditory and cardiac systems. Whilst sporadic i...

Background: To assess whether the improved service provision introduced under the new Paediatric Diabetes Best Practice Tariff, which includes increased contact with the multi-disciplinary team and greater access to psychology support, has impacted positively on the quality of life (QoL) and glycaemic control of young people with diabetes.Method: In 2011, n=55 children and young people with diabetes completed the Generic Paediatric Quality of Li...

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

Case History: A 27 year-old lady, seven weeks gestation presented to ED during her second pregnancy with abdominal pain, vomiting, constipation and hyponatraemia (Na = 114mmol/l). She had attended twice earlier during her pregnancy with presumed hyperemesis gravidarum. Because urinary sodium was elevated at 181mmol/l, dehydration was deemed unlikely and she was initially treated as SIADH with 1.2L fluid restriction and 2.7% 200mls of hypertonic saline. Sertraline was held. Rep...

Case history: A 30-year old female presented with a 10-month history of enlarging neck mass, fatigue and weight gain. Assessment by her GP found her to have a large smooth goitre and biochemical hypothyroidism. The patient had a history of intestinal failure secondary to mitochondrial disorder. As a result of intestinal failure she was entirely dependent on parenteral nutrition and was intolerant of any oral intake, with venting of her stomach to reduce pain. She was referred ...

Introduction: Our endocrine service introduced a nurse led parathyroid clinic to provide an efficient pathway for patients referred with hypercalcaemia.This benefits patients and clinical staff.Materials/Methods: Patients referred with a raised calcium level are vetted by the endocrine consultants and directed to the nurse led clinic. The patients are seen within 6 weeks using a standard proforma and checklist. Relevant investigations to include renal fu...

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...