Endocrine Abstracts

Estrogen receptor alpha (ER) and progesterone receptor (PR) are widely used predictive and prognostic biomarkers in breast cancer. ER is also a well-established therapeutic target. A major unresolved clinical issue is the development of therapy resistance, especially to ER-targeted therapies. We, and others, have observed somatic ESR1 mutations in up to 40% of metastatic tumors obtained from women who have acquired resistance to endocrine therapies. The two most common mutatio...

Advances in diabetes technology, particularly the introduction of continuous subcutaneous insulin infusion (CSII) pumps and of subcutaneous glucose sensing devices, have transformed the Type 1 diabetes (T1D) management landscape over the last 20 years. These devices have become more commonplace in our clinical practice, yet the evidence base that they have contributed to the modest improvements in glycaemic control in children and young people with T1D over these last two deca...

In recent years, the integrated clinical academic pathway has made a previously seemingly chaotic career pathway far more organised. This is now a well-trodden path; for those interested in research, there are opportunities to join this pathway at every stage, from academic foundation programmes through to fellowships aimed at those post-CCT. Combining clinical training in endocrinology (and not forgetting diabetes and general internal medicine too) with research, whether basi...

Childhood-onset craniopharyngiomas are rare intracranial embryonal malformations of the sellar region arising from remnants of Rathke’s pouch that require life-long control and management of the endocrine, ophthalmological and neuropsychological deficits caused by the tumors and their treatment. Craniopharyngiomas show low-grade histological malignancy and frequently affect hypothalamic/pituitary regions and the optic chiasm due to their location. Hypothalamic involvement...

Emerging evidence indicates that the hypothalamus is a key regulator of the adaptation of the central nervous system (CNS) to the changing environment in support of survival, with subsets of hypothalamic neurons acting as upstream regulators of brain regions classically considered as master determinants of CNS function, such as the cortex and hippocampus. The regulatory role of the hypothalamus in cortical and hippocampal functions is mediated via classical neuronal pathways a...

Craniopharyngiomas are partly cystic embryogenic malformations of the sellar and parasellar region. With an overall incidence of 0.5–2.0 new cases/million population per year, ~30–50% of all cases represent childhood craniopharyngioma. Typical manifestations at diagnosis are some combination of headache, visual impairment, polyuria/polydypsia, growth retardation, and significant weight gain. Therapy of choice in patients with favorable tumor localization is complete ...

Denosumab (DMAB) discontinuation is characterized by an increase in bone turnover and a rapid bone loss. These changes are associated with an increased risk of multiple vertebral fractures (VFx). Prevalent VFx, longer duration of therapy, greater gain in hip BMD during DMAB, and greater loss of hip BMD after DMAB were identified as risk factors for multiple VFx following DMAB cessation in a retrospective analysis of the FREEDOM Extension Study. Case series have indicated that ...

Endogenous hormones (e.g. catecholamines, glucocorticoids, growth hormones, androgens, growth factors) may affect the characteristics of physical capacity and performance in athletes by influencing, throughout long-term and short term effects, morphological and functional qualities of neuromuscular, cardiovascular, metabolic and adaptive systems. Exercise per se is associated to the release of different hormones: acute exercise stimulates an acute hormones secretion (e.g. cate...

Energy homeostasis in mammals is controlled by the actions of circulating hormones, which coordinate fuel production and utilization between metabolically active tissues. Mounting evidence implicates the osteoblast as an important player in the coordination of global energy utilization through its hormonal interactions with other tissues. Leptin produced by adipocytes controls postnatal bone acquisition by activating sympathetic nerves whose efferent outputs target β...

Menin is the product of the multiple endocrine neoplasia type 1 (MEN1) gene which when inactivated causes an autosomal dominant disorder characterized by tumors of the parathyroids, endocrine pancreas and anterior pituitary.We identified an MEN1 splice-site mutation leading to a menin Δ(184–218) mutant having an in-frame deletion of 35 amino acids, but otherwise of wild-type sequence. The transfected mutant was well expressed, and like wild-typ...