Endocrine Abstracts

During menopause, plasma lipids change in an unfavourable way to a more atherogenic pattern with, increased total and LDL-cholesterol and decreased HDL cholesterol concentrations. Women with POI show increased cardiovascular morbidity and mortality regardless of the cause of the ovarian insufficiency. The treatment of premature ovarian failure in patients presenting extremely low HLD-C is a real challenge.We present the case of a 29 ye...

Lymphangiogenesis is a very important event in breast cancer development and VEGF-C and D factors play an essential role in this process. Tumoral invasion of lymphatic vessels facilitates metastasis formation and is a bad pronostic marker in this pathology. Although the thyroid hormone receptors (TRs) are ubiquitously expressed in normal tissues, inactivation and mutations of the TRβ gene are usual events in breast cancer, suggesting that the native receptors could act as...

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...

Introduction: Immune checkpoint inhibitors (ICIs) have revolutionized oncological treatment and substantially improved a prognosis for patients with advanced malignancy. ICIs inhibit the immunological pathways controlling T-cell activation or anergy. The most frequently used classes of ICIs are those that targeted and inhibit cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), programmed cell death receptor 1 (PD-1) or its ligand PD-L1. The initiation of ICIs therapy is ofte...

Introduction: Steroid cell tumors are rare ovarian sex cord-stromal tumors with malignant potential comprising <0.1% of all ovarian tumors. A subtype called not otherwise specified (NOS) accounts for approximately one-half of all ovarian steroid cell tumors. The average age of presentation is 43 years, with androgenic clinical features in 56–77% of cases.Case report: A 21-year-old female, on liver transplantation waiting list due to Niemann&#150...

Introduction: Graves’ disease is an autoimmune condition with an estimated prevalence of about 2%, 5–10 times more frequent in females. A multifactorial nature is assumed, with genetic contribution accounting for up to 80% of the variability. Relevant genes includegeneral autoimmune risk loci, such as the HLA region, CTLA-4, PTPN22 and CD40, as well as thyroid-specific loci (thyroglobulin and TSH receptor genes). We report a particular case of Graves’ d...

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is an uncommon severe systemic hypersensitivity drug reaction. Several studies have described the occurrence of newly developed endocrine autoimmune diseases following DRESS syndrome resolution. However, little attention has been paid by endocrinologists to this disorder. Here, we report a case of a patient with Graves’ disease following DRESS syndrome.Clinical case: ...

The vast majority of thyroid cancers are solid. Predominantly cystic tumors occur in <3% cases. Guidelines report as US characteristics consistently associated with a higher risk of malignancy eccentric position of the solid component, acute angle interface and microcalcifications and as less robustly associated lobulated margins and increased vascularity of the solid portion. We reviewed the US characteristics of predominantly cystic papillary carcinomas confirmed on hist...

Most cases of gynecomastia are idiopathic. Among the most frequently identified etiologies are: persistent pubertal gynecomastia, hypogonadism, anabolic steroids and other pharmaceutical drugs use. In the literature, ginecomastia is a well-recognized manifestation of thyrotoxicosis in male patients (in the range of 10% to 40%). However, it is extremely rare in clinical practice as the initial presentation of thyrotoxicosis. The two main factors that contribute to gynecomastia ...