Endocrine Abstracts

Introduction: Abnormalities in cell cycle pathways, such as CDKN1B (p27) underexpression, have been identified in the pathogenesis of pituitary adenomas, but their underlying mechanisms have not been elucidated. Ribosomal proteins have been recently related to pituitary tumorigenesis. In gastric cancer, RPS13 down-regulates p27 and promotes cell cycle progression; these mechanisms have not yet been explored in pituitary adenomas.Objective: To evaluate th...

Background: Klinefelter syndrome is the most common sex chromosome abnormality causing primary hypogonadism and affects approximately 1 to 2.5 per 1000 males. However, other rarer sex chromosomal abnormalities have been associated to testicular dysfunction.Clinical Case: A thirteen-year-old male was referenced to Pediatric consultation due to obesity starting around age four. Perinatal background: maternal gestational diabetes controlled with diet and 10...

Introduction: Hyperglycemia is a common disorder in elderly patients. Diabetes management in this population requires evaluation of medical, pharmacological and functional domains. Screening for diabetes chronic complications should include, in addition to traditional micro- and macrovascular disease, search for cognitive impairment and vitamin B12 deficiency.Objective: To evaluate the prevalence of cognitive impairment, depression, and associated clinic...

RT-coding genes are expressed at very low levels in differentiated, non pathological tissues, while are significantly up-regulated in undifferentiated and transformed cells, suggesting a direct correlation between the level of expression of RT and the proliferative state of the cell. Either nevirapine and efavirenz, two RT inhibitors, used in the therapy of AIDS, reversibly down-regulate cell proliferation and induce differentiation in several human tumor cell lines.<p cla...

Introduction: TSH-secreting pituitary adenomas (TSHomas) are a rare cause of central hyperthyroidism, accounting for less than 1% of all pituitary adenomas, with a prevalence in the general population of 1-2 cases per million.Case Presentation: A 45-year-old female patient presented in 2009 with hypertension and tachycardia: blood tests revealed an inappropriately normal TSH with high fT3/fT4 levels and primary hyperaldosteronism. She declined further in...

Primary ovarian insufficiency (POI) is one of the major causes of female infertility, affecting about 3.7% of women before the age of 40. POI is associated with the premature loss of ovarian function and can manifest with primary amenorrhea (PA) or post-pubertal secondary amenorrhea (SA), with elevated gonadotropins and hypoestrogenism. Several evidence established a clear genetic component to POI, albeit heterogeneous. In search of novel causative genes, we screened 64 POI pa...

Introduction: VIPomas are rare neuroendocrine tumors (NET), usually located in the pancreas that secrete vasoactive intestinal polypeptide (VIP) leading to high-volume watery diarrhea and complications such as hypokalemia, acidosis and dehydration. The management of VIPoma symptoms is often challenging when surgical resection of all the lesions is not feasible. Treatments are then based on somatostatin analogs (SSA) and may also include hepatic chemoembolization, systemic chem...

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Approximately 30% of patients with PPNAD are sporadic cases and the other are familial. We describe a case of a patient affected by PPNAD presenting with isolated arterial hypertension. A 19-year-old black female patient was referred to the Endocrinology Unit in september-2021 due to severe arterial hypertension and fatigue. Previous clinical history was un...

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and methods: A cohort of 63 young women (25.5±5.31 years) with history of ...

Introduction: Regorafenib, a Tyrosine kinase inhibitor (TKI) recently approved for the treatment of metastatic colorectal cancer patients previously treated with fluoropyrimidine-based chemotherapy, VEGF and EGFR inhibitors, may, like others TKIs produce hypothyroidism, but this effect has not been systematically evaluated so far.Description of methods: Prospective evaluation of thyroid function, autoimmunity and morphology during treatment with Regorafe...