Endocrine Abstracts

Introduction: Primary aldosteronism (PA) is the most frequent form of secondary hypertension. Over the past 10 years, important discoveries have been made regarding the genetic basis of aldosterone producing adenoma and familial forms of primary aldosteronism. In most cases, genetic abnormalities are found in genes coding for ion channels (KCNJ5, CACNA1D, CACNA1H, CLCN2) and pumps (ATP1A1, ATP2B3). These mutations affect intracellular ion homeostasis and/or c...

Primary aldosteronism (PA) is the most frequent form of secondary hypertension and is due to autonomous aldosterone production by the adrenal gland. During the last decades, major advances have been made in our understanding of the disease with the identification of germline or somatic mutations in ion channels and pumps. These mutations enhance calcium signaling, the main trigger of aldosterone biosynthesis. The objective of our work was to elucidate, using chemogenetic tools...

Facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility. The possibility of reproductive dysfunction as a consequence of cancer treatment has a negative impact on the quality of life of cancer survivors. The field of oncofertility, which merges the clinical specialties of oncology and reproductive end...

Facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility. The possibility of reproductive dysfunction as a consequence of cancer treatment has a negative impact on the quality of life of cancer survivors. The field of oncofertility, which merges the clinical specialties of oncology and reproductive end...

Context: Amiodarone is a widely used anti-arrhythmic medication, however associated with a 15-20% rate of thyroid adverse effects. Amiodarone-induced thyrotoxicosis (AIT) is a complex disease due to diagnostic difficulties and therapeutic challenges. AIT patients often receive initial therapy for thyrotoxicosis before admission to a referral center. Whether the first-line medical therapy (i.e. therapies for thyrotoxicosis at first diagnosis of AIT) may affect the outcome of AI...

We report the clinical history of a 21-years old young female who, in February 2021, presented abdominal pain and biliary vomiting that lasted for two months. An esophagus-gastroduodenoscopy revealed a duodenal ulcerative lesion and proton pump inhibitory therapy was started with clinical benefit. One month later, the patient presented a facial acneiform rush with hirsutism for which she was referred to our attention. An abdominal MRI documented a well-circumscribed hyper-vasc...

Background and aim: Loss-of-function mutations in TRMT10A, a transfer RNA (tRNA) methyltransferase, cause early onset diabetes and microcephaly. tRNAs play a crucial role in cellular homeostasis and post-transcriptional modifications modulate tRNA function and fragmentation. tRNA-derived halves (tiRNAs, 29-50 nt) and fragments (tRFs, 14-30 nt) are a new class of functional small noncoding RNAs, involved in cellular stress responses. Here we set out to investigate the ...

Introduction: A Patient Held Record (PHR) has been developed for use in adolescent girls with Turner Syndrome (TS) attending a dedicated Turner Transition clinic, RHC Glasgow. The PHR has been devised to encourage knowledge of TS; medcial care and ways to maintain good health and to promote self advocacy.Aim: To assess patient acceptability and user friendliness of a PHR in adolescent girls with TS.Method: A PHR and questionnaire w...

Introduction: Chemokines are small secreted molecules that promote cell survival, proliferation and directional guidance of migrating cells in normal physiology and tumour pathophysiology. We have recently observed high CXCR4 mRNA expression both in normal human adrenals and in adrenocortical carcinomas. Furthermore, a PET tracer for selective molecular imaging of CXCR4-expression has recently been established.Objective: To further investigate CXCR4 prot...

Background: Anti-Müllerian hormone (AMH) is a key regulator of preantral follicle development. In human polycystic ovarian syndrome (PCOS) hyperandrogenism drives antral follicle excess, and is associated with elevated AMH levels. It is currently unknown if androgens regulate AMH secretion.Objective and hypothesis: To provide insights into the regulation of AMH action, we hypothesized that dihydrotestosterone (DHT), the most potent androgen, stimula...