Endocrine Abstracts

Introduction: 46 XX testicular DSD (disorder of sex development) is a rare syndrome characterized by 46 XX karyotipe, male external genitalia, azoospermia, sterility and usually hypergonadotropic hypogonadism in adulthood. Approximately 85% of individuals present after puberty with normal penile size, small testes and gynecomastia.Case report: We present a 34-year-old male who was referred for endocrine evaluation due to slightly high prolactin levels. H...

Introduction: Resistance to thyroid hormone (RTH) is a rare autosomal dominant (AD) condition caused by mutations of the Thyroid Hormone Receptor Beta (TR-β) gene, resulting in generalized tissue resistance to thyroid hormone. Euthyroidism is usually maintained at the expense of increased levels of thyroid hormones and with non-supressed TSH.Case report: A 61 year-old-woman was evaluated for increased free T4 index: 2.29 ng/dl (normal, 0.9–2.1)...

Liver dysfunction related to hyperthyroidism encompasses abnormalities associated with the effects of thyroid hormone excess, drug-related hepatic injury, and the presence of concomitant liver disease. Mild liver abnormalities such as hypoalbuminemia and increased serum level of liver enzymes may be seen in 45–90% of patients with hyperthyroidism. Nevertheless, there are a few case reports of thyrotoxicosis associated with severe acute hepatitis. A 37 year old woman prese...

Background: Thyroid nodule in the pediatric age group is rare, but the rate of malignancy is much higher than adult population. Fine needle aspiration biopsy (FNAB) is an accurate test commonly used to determine whether thyroid nodules are malignant in adults. However, less is known about its diagnostic accuracy for this purpose in children.Aim: To characterize the outcomes of FNAB of nodular thyroid disease at a pediatric tertiary-care institution and t...

Introduction: Struma ovarii (SO) is a rare ovarian teratoma composed predominantly (more than 50%) or entirely of thyroid tissue. It constitutes 2% to 4% of ovarian teratomas. This tumor is often asymptomatic and discovered incidentally. Only 8% of patients present clinical hyperthyroidism.Case report: A 42-year-old woman presented palpitations, anxiety, sweating, emotional lability and weight loss for several months. Physical examination revealed goitre...

Introduction: Amiodarone is an antiarrhythmic iodine-rich drug, known to induce thyroid dysfunction both due to its high iodine content and through amiodarone-induced thyrotoxicosis (AIT), being this latter process classified into three different types. Type 1 is associated with increased thyroid hormone synthesis; type 2 is a destructive process with thyroid hormone release and type 3 is thought to be a mixture of the former two. Since treatment options are different, there h...

Enzalutamide is an androgen receptor (AR) inhibitor approved for therapy of metastatic castration resistant prostate cancer. However, clinical application revealed that 30 to 40% of patients acquire resistance after a short period of treatment. Currently, the molecular mechanisms underlying such insensitivities are not completely understood, partly due to a lack of model systems. In the present study we established three different cellular models of enzalutamide resistance inc...

In a previous study we found mutations in the main catalytic subunit of protein kinase A (PKA Cα) to be responsible for cortisol-secreting adrenocortical adenomas (ACAs). These mutations interfere with the formation of a stable holoenzyme, thus causing constitutive PKA activation. More recently, we identified additional mutations affecting PKA Cα in ACAs associated with overt Cushing syndrome: Ser213Arg_Leu212_Lys214insIle-Ile-Leu-Arg, Cys200_Gly201insVal, Trp197Arg,...

Introduction: Vitamin D insufficiency is very common among Spanish adults. It is well established there is an inverse relationship between vitamin D and PTH levels. The diagnostic approach of an increased serum PTH concentration in a normocalcemic normophosphatemic patient is frequent in routine practice and the deficiency of vitamin D is the major cause of secondary hyperparathyroidism (SHPT). The aims of this study were to evaluate the prevalence of SHPT in a cohort of normo...

Introduction: The estimated annual incidence of Cushing’s disease ranges from 2 to 4 per million. Bilateral macronodular adrenal hyperplasia (BMAH) accounts for <1% of Cushing’s syndrome causes.Case report: We present a case of 58-year-old man who had been suffering typical clinical signs of hypercortisolism for 5 years. He presented hyperglycemia, arterial hypertension, central obesity, thin skin, hemorrhagic diathesis, edemas, weakness an...