Endocrine Abstracts

Recent investigations into the pathogenesis of Kallmann's syndrome (KS) have pointed to the importance of anosmin-1 and FGFR1 (fibroblast growth factor receptor-1), the gene products for the X-linked and an autosomal dominant form of KS respectively, in olfactory, GnRH-1 neuronal systems and kidney ontogeny. Disturbed anosmin-1/FGFR1 pathways lead to partial or complete failure of OB (olfactory bulb) development and arrest of GnRH-1 neuronal migration, explaining the predomina...

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...

The defining features of Kallmann's syndrome (KS) are isolated hypogonadotrophic hypogonadism (IHH) and anosmia, the consequences of a GnRH neuronal migratory defect and olfactory bulb agenesis respectively. Additional features in X-linked Kallmann's syndrome (XKI), include unilateral renal agenesis and bimanual synkinesis respectively. XKI results from mutations of KALIG 1, on Xp22.3. The encoded protein anosmin-1, is a hexamodular secreted cell membrane associated extracellu...

IntroductionKallmann syndrome (isolated hypogonadotrophic hypogonadism and anosmia), is caused by loss of KAL-1 function in the developing human olfactory system. Gene function is also conserved in eukaryotes, including nematodes, chick and rodents. However, the precise role of kal-1 in the developing nervous system is unclear. D.melanogaster an ideal model to study kal-1 function, as many molecular aspects of olfactory development are shared with mammal...

IntroductionThe main population of GnRH-1 neurons that control activity of the HPG axis in primates originate in the peripheral olfactory system. Recently, in vitro primary cell cultures from human fetal olfactory epithelium, named FNC-B4, have been shown to express GnRH-1 and are likely to be the precursor of the adult-like GnRH-1 system distribution in the CNS. A number of external and cell-autonomous factors are known to control migration of these spe...

Introduction: Vitamin D (VD) deficiency affects many autoimmune disorders requiring steroid therapy. In contrast to glucocorticoid immune suppressive doses for autoimmune diseases, patients with Addison’s disease (AD) require physiological replacement. There is growing evidence of a cross-talk between glucocorticoids (GC) and VD. However, VD’s interaction with the GC pathway remains poorly understood.Methods: To explore this issue, CD14+</...

BackgroundSuspicion of Cushing´s syndrome (CS) is usually suggested by non-specific clinical data. Chronic hypercortisolism associates changes in white blood cell count (WBC), essentially a higher count with relative lymphopenia. Our purpose is to investigate the prevalence of these findings among a local series of patients with Cushing’s syndrome before and after the hypercortisolism revertion to assess the diagnostic value of these parameters...

Introduction: Smokers around the globe commonly report increased body weight after smoking cessation as a major factor that interferes with their attempts to quit. In addition, numerous controlled studies in both humans and rodents have reported that nicotine exerts a marked anorectic action. Nicotine’s effects on energy homeostasis have been mostly pinpointed in the central nervous system, but the molecular mechanisms controlling its action are still not fully understood...

Introduction: Interferon-α (IFN-α) exerts different immune effects and is used in current therapy for chronic hepatitis C virus (HCV) infection. One of the side-effects of IFN-α therapy is interferon-induced thyroiditis (IIT). The role of lymphocyte subpopulations in IIT remains to be defined.Objective: This study was conducted to assess different peripheral blood lymphocyte subpopulations, mainly regulatory CD4+CD25+...

Introduction: Adrenal schwannomas are very rare tumors that are difficult to diagnose properatively. They represent only 1–3% of all retroperitoneum masses.Case report: A 30-year-old woman was referred to the outpatient to evaluate an adrenal mass incidentally found on abdominal ultrasonographic images obtained for self-limit abdominal pain. Her medical and family histories were unremarkable. Clinically asymptomatic, only referred amenorrhea for two...