Endocrine Abstracts

Background: The control of the Hypothalamic–Pituitary–Gonadal (HPG) axis is a highly complex process, with the hypothalamic arcuate-median eminence complex (Arc-ME) as the master regulating region. The transient activation of the HPG axis is essential for the development and function of the reproductive system. This project’s focus is the transient phase of HPG axis activation within the first weeks and months postpartum (minipuberty). The mechanisms guiding the...

Introduction: Women prescribed hormonal therapies for breast cancer (eg Aromatase Inhibitors (AI) and ovarian suppression therapy (OST)) are at increased risk of fracture and monitoring of Bone Mineral Density (BMD) is needed. Recommendations for BMD monitoring and treatment interval thresholds differ between guidelines which has implications for management. We compared the outcomes from the application of 3 commonly used guidelines for bone health in women wi...

Introduction: FSH is a key player in reproductive functions, the expression of its unique subunit FSHB is regulated by the FSHB promoter. Recently, a single nucleotide polymorphism (SNP) at a highly conserved position in the FSHB promoter (rs10835638; −211G>T) has been found to be associated with decreased serum FSH levels in men and with male infertility. Because to date no information is available on possible endocrine consequences of this SNP in women, we conducte...

Background: Klinefelter syndrome (KS) is the most frequent genetic cause of male infertility. Individuals share the endocrine hallmark of hypergonadotropic hypogonadism, displaying high gonadotropin levels due to deficient testicular function. A single-nucleotide polymorphism (SNP) located within the FSHB promoter region (−211G>T, rs10835638) was recently shown to be associated with reduced serum FSH levels and other reproductive parameters in men. The objec...

Background: Recently, a single nucleotide polymorphism (SNP) in the FSHB promoter (−211G>T, rs10835638) was found to be associated with lower serum FSH levels and oligozoospermia in males. In contrast, a SNP in the FSH-receptor gene (FSHR, 2039A>G, rs6166) was previously shown to be associated with FSH levels in women only.Subjects and methods: One thousand two hundred and thirteen male partners in infertile couples without known c...

Background: To characterize the diagnostic performance of 18-Fluoroethylcholine-PET-CT (FCH-PET-CT) to localize parathyroid adenomas (PA) in primary hyperparathyroidism (pHPT) when ultrasound (US) and MIBI-Scan (MibiS) fail to localize – intraoperative correlation and one-year follow up.Method: Beginning in 07/2017 18-FCH-PET was employed in patients with proven pHPT in whom US and MS delivered either incongruent or negative findings. All patients ...

Transfer of hematopoetic stem cells from mice transgenically overexpressing the islet autoantigen insulin could prevent type I diabetes in NOD mice. We tested if such an approach of tolerance induction could be employed by means of retroviral gene transfer of autoantigens into syngeneic hematopoetic stem cells (HSCs). We used glutamic acid decarboxylase 65 (GAD) as the autoantigen as T cell responses against GAD are more easily detected in NOD mice and as it has been previousl...

Background: Insulinomas are the most prevalent functional neuroendocrine tumors of the pancreas. Enucleation is often preferred to pancreatic resection because it’s minimally invasive nature. The aim of this study is to assess the post-operative surgical outcome in particular pancreatic fistula after resection.Methods: All patients with insulinomas were selected from a retrospective database of resected pancreatic neuroendocrine tumors (pNET). Patie...

Objectives: Mutations in SECISBP2 cause deficiency of selenoproteins, resulting in a multisystem disorder with abnormal circulating thyroid hormone and selenium levels and features due to lack of specific selenoproteins or loss of antioxidant selenoenzymes. Having observed early-onset, aneurysmal thoracic aortic dilatation in four patients with this disorder, we studied zebrafish and murine Secisbp2 mutant models to determine whether the aortic phenotype and selenopro...