Endocrine Abstracts

Juvenile primary osteoporosis, unless diagnosed as osteogenesis imperfecta, has previously been considered a sporadic and self-limiting disease. New genetic findings, including osteoporosis-causing mutations in the LDL-receptor related protein (LRP) 5 and LRP6 genes, challenge this view. The pathogenesis of juvenile osteoporosis still remains largely unknown. We describe findings in a three-generation pedigree with a new form of autosomal dominant osteoporosis.<p class="ab...

Klinefelter syndrome (47,XXY; KS) is still a diagnostic challenge. Many patients are misdiagnosed, or remain undiagnosed, and thereby prevention and treatment of associated comorbidities is often delayed. The presence of the additional X chromosome is associated with a number of health problems involving multiple organs and consequently are both morbidity and mortality significantly increased. The increased morbidity seen in KS is due to an increased risk of developing physica...

This case study is part of the Nurses session -Adrenal Crisis and steroid education.The incidence of Adrenal Crisis in secondary Adrenal Insufficiency is high and associated with substantial mortality. However the etiology is not always obvious. Advances in comprehensive patient education including self-administration of hydrocortisone is crucial to eliminate death from Adrenal Crisis. Other advances in the United Kingdom have been implemented to assist allied health care prof...

The objectives of this talk are to outline how the role of the Endocrine nurse fits into clinical trials. Nurses working in clinical trials usually operate at an advanced level, delivering experience, knowledge and autonomous practice. The Endocrine research nurse is responsible for liaising with and co-ordinating the care of Endocrine patients with complex conditions into research studies. Then organising and synchronising these studies by collaborating with other members of ...

There is clear evidence from epidemiological studies that adverse conditions during pregnancy can programme changes in offspring which lead to increased risk of developing type two diabetes and obesity, two diseases associated with metabolic syndrome. Whilst earlier investigations focused on undernutrition in relation to famine, it is also relevant in the developed world to consider how dieting may programme lasting changes in the offspring.In models of ...

The decision to undertake a PhD launches you on a path of discovery, but not necessarily scientific discovery!You discover a lot about yourself. Can you survive the failed experiments, the confusion about your goals and the uncertainty about a future career?You discover a lot about working in research groups. Sometimes there is stress with your supervisor, sometimes with other members of the team.The problem ...

Sex steroids are involved in the development of obesity and metabolic disorders. The interrelationship between sex steroid balance and metabolism is complex, and the underlying mechanisms are still unclear. The impact of gut microbiota in development of obesity, inflammation and metabolic dysregulation has been suggested in humans and demonstrated in mouse models. Less is known about the interactions between sex steroids and gut microbiota. Based on available evidence, it is, ...

A 39-year-old female was referred to the emergency department with a sore throat, fever, myalgia and odynophagia. She had presented to her GP three months previously with palpitations, erratic mood and fatigue and had been diagnosed with hyperthyroidism. She had been started on carbimazole 20 mg od and was awaiting review in endocrinology OPD. She had no other past medical history and was a non-smoker. On examination she was tachycardic with a heart rate of 113. She had cervic...

Onset of puberty strongly depends on organizational processes taking place during the fetal and early postnatal life. Therefore, exposure to environmental pollutants such as Endocrine disrupting chemicals during critical periods of development can result in delayed/advanced puberty and long-term reproductive consequences. Human evidence of altered pubertal timing after exposure to endocrine disrupting chemicals is equivocal. However, the age distribution of pubertal signs poin...

Paragangliomas and pheochromocytomas (PPGL) are neuroendocrine tumors with a very strong genetic component. A germline mutation in one of the different susceptibility genes identified so far explains about 40% of all cases. Genetic testing is recommended in every affected patient and next-generation sequencing (NGS) is the ideal technology to screen the high number of PPGL susceptibility genes (1). The interpretation of genetic variants identified by NGS can be guided by the c...