Endocrine Abstracts

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Introduction: In chronic diseases a good psychological and behavioral adaptation is essential. Concerning diabetes the Insulin Delivery System (IDS) adopted tend to be an important factor of adaptation, global satisfaction and, above all, quality of life (QoL).Objectives: To analyze the QoL and IDS satisfaction and its relationship with psychopathological symptomatology in patients on continuous subcutaneous insulin infusion (CSII) therapy.<p class="...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Background: Skeletal changes including demineralization have been reported in WD. The exact mechanism originating these changes isn’t completely understood but some authors have proposed a link to vitamin D (VitD) metabolism.Aim: To investigate the prevalence of demineralization in a cohort of WD patients and correlate it with VitD status and severity of hepatic and neurological involvement.Methods: Thirty-five patients (17 ma...

Introduction: Lenvatinib is a multitarget tyrosine kinase inhibitor that has shown substantial efficacy in patients with progressive radioiodine refractory thyroid cancer (RAIRDTC) (progression free survival (PFS) 19.4 months and objective response rate 64.8%; SELECT trial) despite common adverse events (AEs).Objective: To evaluate efficacy and toxicity of lenvatinib treatment for RAIRDTC in daily clinical practice.Methods: Retrosp...

IntroductionHypoparathyroidism still remains the only hormone-deficiency related disorder whose standard treatment is not based on replacing the missing hormone. In the last few years, there has been growing evidence on the use of recombinant human PTH, mostly with subcutaneous injections of rhPTH(1–34). More recently, some clinicians have tried to administer teriparatide through a continuous delivery system using insulin pumps.<p class="abstext...

Infertility is a growing concern in Western countries. Several factors, including lifestyle habits and increased prevalence of chronic disorders associated with hormonal alterations, increased chronic inflammation and systemic oxidative stress (such as obesity and diabetes mellitus), are contributing to the reduction of reproductive potential among males in modern societies. Evidence suggests these factors negatively impact human sperm quality resulting in a combination of alt...

Introduction and aim: Type 1 diabetes mellitus (T1DM) presents as a challenge for both health care providers and patients looking to avoid chronic complications and early mortality. Clinical features of patients with long duration T1DM are still poorly studied and debated. The aim of our work was to describe the clinical features of subjects with long duration T1DM.Methods: Cross-sectional study of patients with T1DM with more than 40 years of evolution ...

Introduction: Diamond-Blackfan anemia (DBA) is a severe congenital erythroid aplastic anemia with autosomal dominant inheritance. It is a rare disease (incidence 1/150000) and usually is discovered during the 2 first years after birth. Treatment includes steroids, blood transfusions and bone-marrow transplantation.Case report: A 31 year-old woman with DBA had received multiple treatments including transfusion support since birth. Consequently, she had de...