Endocrine Abstracts

Introduction: Zinc homeostasis is involved in numerous physiological and pathological conditions, ranging from type 1 and type 2 diabetes to memory impairment and cancer, and is determined by at least 28 genes, including 24 SLC (Solute Carrier) family members and 4 MTs (Metallothioneins). To explore the potential role of zinc homeostasis in MetS (metabolic syndrome) and IR (insulin resistance), we investigated 28...

The relationship between the level of genetic variation in CYP17, PSA genes and prostate cancer has been extensively studied but the results are still unclear. A 450c17a (CYP17) polymorphism A1/A2 was described to be significantly associated to prostate cancer. A SNP in the promotor PSA gene is an A to G substitution at position −158 (G158A) was proposed to interact differently with AR, thereby modifying the expression pattern and occurrence of prostate cancer.<p cla...

: A large number of studies are now focused on the causes of male infertility. Among these are epigenetic modifications, which are important contributors to reproductive pathology in the male by providing dynamic changes of the phenotype according to the environmental and metabolic factors. The most known epigenetic modification is DNA methylation and alterations in this pattern in several genes could induce male infertility. Alterations in DNA methylation patterns in several ...

The CDX2 VDR polymorphism (rs11568820) is located in the promoter region of exon 1 in the 5′-untranslated region of the VDR gene.Objective: The current investigation examines the association between CDX2 VDR polymorphism and male infertility.Subjects and methods: The study was conducted on 69 infertile men, aged between 20 and 50 years, divided into three groups, based on spermatic parameters: group with azoospermia (19 subje...

Introduction: Matrix metalloproteinase-9 (MMP-9) is a zinc dependent proteolytic enzyme used by cells for degradation of the extracellular matrix during invasion and migration. There are only a few reports regarding the role played by MMP-9 in papillary thyroid carcinoma (PTC).Aim: To evaluate the association between MMP-9 secretion, reflected by preoperative serum levels and the histopathological features of thyroid tumors.Materia...

Background: The role of circulating Galectin-3 as a potential biomarker of malignancy in thyroid disease remains inconclusive. In a previous pilot study we reported a significant difference between serum Gal-3 levels in papillary thyroid carcinoma (PTC) patients and those with benign pathology, but no association with tumor aggressiveness.Aim: We measured serum Gal-3 levels in a larger series of patients submitted to thyroidectomy, in order to assess its...

Thyroid carcinoma is the most common endocrine malignancy and represents ~1% of all types of human cancer.Objective: As the molecular pathogenesis of thyroid cancer still remains to be clarified, the goal of our study was to find new molecular markers that could improve the diagnostics, follow-up protocols, treatment outcome, prognosis and the quality of life of differentiated thyroid cancer patients.Subjects and methods: Matched t...

Only a few genes involved in spermatogenesis have clinical importance: Y chromosome micro deletions in the region called azoospermia factor (AZF) and oestrogen receptor alpha gene polymorphisms (ESR1).Objective: The study aim to evaluate ESR1 and Y chromosome deletion in infertile men.Subjects and methods: 43 infertile men, and 34 fertile men aged 20–50 years 50, were enrolled after signing the informed consent. Screening for ...

Background: According to current guidelines, RET mutation screening is indicated for MEN2 and familial MTC (FMTC) kindreds, as well as for apparently sporadic MTC patients.Aim: To investigate RET mutations in Romanian MEN2, FMTC and sporadic MTC cases.Patients and methods: RET mutation screening was performed by high-resolution melting analysis followed by direct sequencing of PCR products of exons 10-11 in 7 MEN2A families, 2 FMTC...

Introduction: Pituitary adenomas (PAs) are rare in childhood and the transition period, can result from AIP/MEN1 mutations, are difficult to manage and severely impair quality-of-life.Aim: To describe the clinical and genetic characteristics of patients with PA onset before 21 years old.Patients and methods: Retrospective study (1980–2015). Clinical, imaging and hormonal data, AIP/MEN1 sequencing.<p class...