Endocrine Abstracts

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...

Pituitary carcinoma is rare (0.1–0.2% of pituitary tumors), with a poor prognosis. It usually presents as invasive and secretory (ACTH or prolactin) macroadenoma. The diagnosis is confirmed by the presence of metastases. The latency period between the diagnosis of adenoma and carcinoma is variable (9.5 years for corticotrophinoma). The treatment includes surgery, radiotherapy and chemotherapy.We report a 58-year-old male, complaining of visual distu...

Introduction: Turner Syndrome (TS) is associated with cardiovascular anomalies and account for a threefold higher mortality in these women. The most common findings are congenital malformations of the heart (CMH), aortic dissection, valvular heart disease (VHD), hypertension and ischemic heart disease. It has been suggested that the ocurrence of cardiovascular disease in TS women is related to their karyotype and possibly to growth hormone (GH) treatment. Our study aimed to as...

IntroductionIn Klinefelter syndrome, hypergonadotropic hypogonadism is the most prominent endocrine-metabolic disorder. However, a higher prevalence of cardiovascular risk factors has also been reported.ObjectivesIn a sample of individuals with Klinefelter Syndrome (KS): – to document the diagnostic context; – to assess the prevalence of cardiovascular risk factors (CVRF) and compare it with a contr...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Introduction: McCune-Albright syndrome (MAS) consists of at least two of the following three conditions: polyostotic fibrous dysplasia (PFD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. The most common form of autonomous endocrine hyperfunction is precocious puberty, but other syndromes may be present, including acromegaly, hyperthyroidism, and Cushing syndrome. Acromegaly is seen in approximately 20% of patients with MAS. Treatment opt...

Introduction: The American Diabetes Association proposed two subcategories for type 1 diabetes: autoimmune type 1 diabetes (ADM) and idiopathic type 1 diabetes (IDM). The absence of β-cell autoimmune markers and lack of association with HLA haplotypes define the second category, whose pathogenesis remains unclear. Only a minority of patients with type 1 diabetes fall into this subcategory which is considered by several authors similar to type 2 diabetes.<p class="abst...

Introduction: Cushing Syndrome have long been recognised to predispose patients to infection diseases, a consequence of the immunosuppression induced by corticosteroids. There is a predisposition to viral, bacterial, parasitic and especially fungal diseases. Opportunistic infections, particularly invasive fungal infections, represent a serious complication associated with an increased risk of mortality.Clinical case: We represent a 55 years-old woman, po...

Introduction: Thyroglobulin (Tg) measurement in needle washouts from fine-needle aspiration biopsies (FNA-Tg) increases the sensitivity of lymph node (LN) metastasis diagnosis in differentiated thyroid cancer (DTC). However, the cutoff value for FNA-Tg has not been clearly established and there are large differences between clinical studies, which hinders its interpretation. Our study aimed to investigate the optimal cutoff value of FNA-Tg and evaluate its utility in the diagn...

Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of grow...