Endocrine Abstracts

Background: Calcifediol (25(OH)D3), the major circulating form and the direct precursor of the biologically active form of vitamin D, has been identified as an agonist ligand for vitamin D receptor (VDR) with anti-proliferative effects and gene regulatory function despite having a lower receptor affinity respect than the biologically active form of vitamin D3. In fact, recent studies have suggested that 25(OH)D3 can regulate gene expression by ...

Background and aim: Ovarian hyperandrogenism is a known cause of post-menopausal hirsutism and virilisation, more frequently of a benign nature (e.g. ovarian hyperthecosis, Leydig cell hyperplasia). Bilateral salpingo-oophorectomy delivers both definitive diagnostic and therapeutic results. However, after excluding the presence of a suspicious ovarian mass, the use of GnRH analogues (GnRH-a) offers a valuable therapeutic alternative with cases reporting a sustained response in...

Background and objective: Optimization of glucocorticoid (GC) replacement therapy in adrenal insufficiency (AI) is crucial to avoid consequences of under- or overtreatment. Dosing of GC replacement is mainly based on clinical grounds; however, the impact of patient’s characteristics on daily GC requirement is poorly evaluated. The aim of the study is to assess the influence of sex (M/F) and BMI on dosing GC in patients with AI of different etiology....

Objective: The aim of this study was to define which hormonal cut-off values can discriminate polycystic ovary syndrome (PCOS) from non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH).Patients and methods: We included 70 women in reproductive age who attended our Unit from 2003 to 2018 for a diagnosis of PCOS with a basal 17hydroxyprogesterone (17OHP) level in the follicular phase of the menstrual cycle ≥200 ng/d...

Background: Peptide receptor radionuclide therapy (PRRT) can be an option for advanced pancreatic neuroendocrine neoplasms (PNENs) to allow patients undergo resection. Whether or not neoadjuvant PRRT increases postoperative morbidity remains unclear.Methods: Patients with initially metastatic and/or locally advanced PNEN who underwent neoadjuvant PRRT (neoadjuvant group) were compared with a group of patients who underwent upfront surgery (control group)...

Genetic intratumor heterogeneity has been recently demonstrated in some solid human cancers and a few years ago RET mutated and not mutated cells were described in medullary thyroid carcinoma (MTC). Nobody reported the presence of two different RET mutations.Aim of our study was to investigate the RET somatic mutation profile in primary MTC (pMTC) and in the corresponding metastatic tissues (mets).We studied pMTC and mets of 22 MTC...

Epi/genetic defects at the imprinted GNAS locus, that encodes the α subunit of the stimulatory G protein (Gsα), have been associated with a heterogeneous group of rare diseases, termed as Pseudohypoparathyroidism. Most GNAS-based disorders have the common feature of episodic de novo formation of heterotopic ossifications (HO) in subcutaneous tissues. The mosaic tissue distribution of HO suggests that pathogenesis involves an abnormal differentiation of precu...

IgG4 related hypophysitis is a recently described entity belonging to the IgG4 related diseases. It is characterised by markedly elevated serum IGG4 levels and tissue infiltration by IgG4 positive plasma cells. To date, 34 cases of IgG4 related hypophysitis have been described but only a handful were in women or biopsy proven. We describe a case of a 58 year old woman who presented with transient headache. She also complained of polyuria and nocturia. She had a thyroidectomy f...

Introduction: In 2004, the WHO defined atypical pituitary adenomas (APAs) those with Ki-67 >3%, excessive p53 expression and increased mitotic activity. The usefulness of this classification is still controversial.Aim: To compare the clinical and prognostic features in a series of typical and atypical pituitary adenomas.Materials and methods: We retrospectively reviewed 343 consecutive PAs. APAs represented 18.7% of the cases. ...

Anti-Mullerian hormone (AMH), a member of transforming growth factor β (TGF-β), shows different sex-related functions. In male, from the fetal development till the puberty, the expression of AMH by Sertoli cells causes regression of Mullerian ducts with subsequent testicular differentiation. Mainly studied in female, AMH produced by ovarian granulosa cells inhibits both initiation of primordial follicle growth and the FSH-stimulated follicle growth. Moreover, recent ...