Endocrine Abstracts

Pituitary adenomas may show alterations of PI3K/Akt pathway. IGF2, binding the IGF1-R, is able to active it. LOI of IGF2 has been implicated in the pathogenesis of many tumours. Activation of PI3K produces phosphorylation of p27 and its cytoplasmic mislocalization. Loss of nuclear p27 was associated with worse prognosis. In this study we correlated IGF2 imprinting with activation of PI3K/Akt pathway in a series of 29 somatotropinomas. After surgery, tumors were embedded in RNA...

Introduction: Pasireotide long acting release (LAR) is approved for second line treatment of acromegaly. We present 3 patients with aggressive acromegaly treated with a personalized de-escalation approach.Case 1: A 61-year-old female affected by acromegaly reisistant on first-line SSAs. In 2015 therapy was switched to pasireotide LAR 60 mg every 28 days. After two years, the IGF-I level touched the lower age range and therapy was downscaled to pasireotid...

Introduction: The small-cell neuroendocrine prostate carcinoma (SCPC) is rare, highly aggressive and usually transforms from prostate adenocarcinoma (PAC) after androgen deprivation therapy (ADT).Case Report: A 66-year-old man had a three-year history of high-grade PAC with high burden disease (abdominal lymph node and bone metastasis) at presentation (09/2019). On the initial staging evaluation, the CT scan documented a 20 mm left adrenal nodule compati...

Background and aims: Type 2 Diabetes Mellitus affects a growing number of people allover the world. It is associated with serious complications. Several studies have shown that it is possible to prevent and minimize type 2 diabetes complications if it is treated appropriately over time. In our Hospital there is, since 1998, an outpatient clinics of diabetes. This study aimed to determine the quality of care provided to diabetic patients in our institution.<p class="abstext...

Introduction: Von Hippel–Lindau syndrome (VHL) is an autosomal dominantly inherited neoplastic disorder with marked phenotypic variability, characterized by a broad spectrum of clinical manifestations in central nervous system (CNS) and viscera. Specific gene mutation can be demonstrated; however imaging plays an important role in diagnosis. 68Ga-labelled somatostatin analog (68Ga-DOTANOC) PET-CT is routinely employed for somatostatin receptor (SSTR) imaging, mainly for n...

Background: Sarcopenia is characterised by a loss of muscle mass and function and is negatively correlated with quality of life and clinical outcomes. It may be present despite a healthy or even high body mass index (BMI). Up to a quarter of NET patients are at risk of malnutrition, which may impact treatment outcomes and length of hospital stay. Research has shown that patients with pancreatic and intestinal NETs are at higher risk of weight loss than bronchial NETs. With an ...

Introduction: Kallmann-de Morsier Syndrome is a rare genetic disorder characterized by the combination of hypogonadotropic hypogonadism and anosmia or hyposmia. It is more prevalent in males compared to females. In this case report, we present the case of an adolescent with Kallmann-de Morsier Syndrome.Case Presentation: An 18-year-old patient was referred to our endocrinology clinic by gynecologists for the investigation of pubertal delay. The patient&#...

Context: Several specific transcriptional factors, in view of their important role in thyroid organogenesis and thyroid specific gene expression, would be strong candidate genes for the etiology of TD. The homeobox transcription factor NKX2.5 was thought to be only required for the organogenesis of the heart tube. However, NKX2.5−/− embryos also exhibited a smaller outgrowing thyroid bud. Indeed, several loss ...

Introduction: De Quervain’s thyroiditis, also known as subacute granulomatous thyroiditis, is a self-limiting inflammatory disorder of the thyroid gland. It is presumed to be caused by a viral infection and many patients have a history of an upper respiratory infection 2-8 weeks prior to the onset of thyroiditis. It is the most common cause for neck pain or discomfort, and it usually has a predictable course of thyroid function evolution. On ultrasonography the thyroid gl...

Cortisol-based therapy is still the most potent anti-inflammatory treatment available for skin conditions such as psoriasis and atopic dermatitis. Previous studies have demonstrated the presence of components of the steroidogenic pathway in keratinocytes, though surprisingly none have reported that these cells, which form up to 90% of the epidermis are able to synthesise cortisol1,2. Here, we demonstrate that primary human keratinocytes (PHK) are capable of de no...