Endocrine Abstracts

Background: Adrenocortical tumors (ACT) include benign and malignant forms. Adrenocortical carcinomas (ACC) are highly malignant neoplasms with poor prognosis and strong metastatic potential. Aurora kinase family members (AK) are serine/threonine kinase involved in the regulation of mitosis. Aurora kinase A (AKA) promotes centrosome maturation and spindle assembly, while aurora kinase B (AKB) is necessary for spindle assembly checkpoint and cytokinesis.A...

Background: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare congenital disorder characterized by any combination of optic nerve hypoplasia, pituitary dysfunction and midline abnormalities of the brain. Clinical diagnosis requires the presence of at least two of the features. This disorder is equally prevalent in males and females, with a reported incidence of 1/10,000 live births. There is wide variation in the severity of the clinical features found....

Introduction: Multiple endocrine neoplasia (MEN) is a rare genetic syndrome characterized by occurrence of tumors involving two or more endocrine glands. Four types are described: MEN1, MEN2, MEN3 and the recently identi&#-1279;ed MEN4. Due to the complexity of the syndromes, it is difficult to manage these patients. Our objective was to describe the clinical features of individuals from 7 families with a diagnosis of MEN1 or MEN2 and identify current challenges in clinical pr...

Background: Vitamin D is an important modulator of cell growth, differentiation and death in normal and neoplastic cells. Its actions are mediated by vitamin D receptor (VDR), which heterodimerizes with nuclear retinoid X receptors (RXRα). Recently, it has been suggested that vitamin D system have a role in male reproduction. The aim of this study was to investigate the VDR and RXRα localization in normal and neoplastic human male reproductive tissues.<p class="a...

Introduction: Adrenocortical carcinoma (ACC) is a rare and potentially fatal disease in childhood. Complete resection of the tumor and metastasis can improve survival. Case: A 2.6 year-old boy presented isosexual pseudo-precocious puberty at 2.1 years. CT revealed a single nodule in the left adrenal (2 cm) which was resected by adrenalectomy. Histology revealed an adrenocortical tumor (2 cm, 3.0 g, Weiss score 4), ENSAT stage I. Partial regression of the puberty features and n...

Chronic low-grade inflammatory condition is associated with metabolic pathologies such as obesity. However, the role exerted by local inflammation occurring in different fat depots, such as subcutaneous (SAT) versus visceral (VAT) adipose tissue (AT), is still under evaluation. Aim of the present study was to characterize the inflammatory state in adipose tissue of obese (OB: n=58, mean±S.D. BMI=47±9) vs normoweight (NOR: n=28, mean±...

Metabolic pathologies mainly originate from dysfunctions of the white adipose tissue (AT). Functional differences in AT and their impact on metabolism seem associated with the fat depot regional distribution, in particular the subcutaneous (SAT) and visceral (VAT) pads. Human adult adipose stem cell (ASC) populations have recently been characterized from SAT and VAT. In this study, using human ASC cultures obtained from paired biopsies of abdominal SAT, S-ASC, and VAT, V-ASC, ...

The potential side effects of the rhGH therapy have been evaluated only during treatment and the accessible databases have been developed as a post-marketing surveillance only by the Companies distributing rhGH. Aim of the present study was to evaluate health consequences (metabolic diseases and/or malignancies) in adults previously treated with rhGH during childhood. We recruited 284 patients (median age at diagnosis 12 years, range 3–17) who underwent rhGH treatment bet...

Background: Familial isolated pituitary adenomas (FIPA) is a rare inherited disorder accounting for about 2% of pituitary adenomas. Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of FIPA families and rarely in early onset sporadic pituitary adenomas. Among the AIP mutations reported so far, the R304X represents, after the Finnish founder mutation Q14X, the second most common one.Me...

Background and aims: Alterations of mood and depression may be associated with type 2 diabetes (T2DM) and impaired glucose metabolism in non-diabetic people. Central serotoninergic activity may modulate glucose tolerance via neuroendocrine effectors. The serotoninergic tone was assessed by measuring the hormonal response to a selective serotonin reuptake inhibitor, citalopram, in non-diabetic subjects and patients with T2DM followed by either a traditional approach or a clinic...