Endocrine Abstracts

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...

Introduction: Lipodystrophic syndromes are rare and heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue. They can be classified according to the extent of fat loss in generalized or partial subtypes and genetic or acquired based on the pathogenic mechanisms.Case report: A 37-year-old man was referred to our department with a history of nonalcoholic steatohepatitis associated with high levels of triglycerides (720...

Introduction: Western countries present a gradual decline in male reproductive function. The decline in testosterone levels and sperm production witnessed over the past five decades, has been ascribed to environmental factors and unhealthy behaviors. Substance and drug usage is recognized as a detrimental lifestyle choice, that can interfere with the processes of steroidogenesis and spermatogenesis. Hypogonadism due to substance and drug abuse can be reversible.<p class="a...

Introduction: Ovarian hyperthecosis (OH) is a rare condition, reported only in case reports and small case series and is characterized by severe hyperandrogenism leading to virilisation and insulin resistance. The term hyperthecosis refers to the presence of luteinized thecal cells within a hyperplastic ovarian stroma and the pathophysiology of this remains poorly understood. Despite the fact that hyperandrogenism is a relatively common clinical problem, severe hyperandrogenis...

Introduction: Multiple endocrine neoplasia type 2A is an autosomal dominant disorder, caused by mutations in the RET proto-oncogene. The genetic testing may help us in the early identification of carriers, and it can guide us on the follow-up and on the treatment. Thus, we can significantly reduce the morbidity and mortality of this syndrome. We will illustrate a case and highlight the importance of follow-up in a MEN2A patient.Case report: A 41-year-old...