Endocrine Abstracts

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...

Background: Patients with type 1 diabetes (T1DM) are known to have a higher risk of developing other autoimmune diseases. The most common associated disorders are thyroid autoimmunity (Graves’ disease or Hashimoto’s thyroiditis) and celiac disease.The aim of this study was to investigate the prevalence of other autoimmune disorders in T1DM patients of our clinic.Methods: We reviewed 269 files of children and adolescents w...

Context: Pathogenesis underlying non functioning pituitary adenoma (NFPA) formation and progression has not been well established. MEG3 is strongly expressed in the normal pituitary (NP) but not in NFPA derived from gonadotroph cells. High GSTP1 gene expression also seems to contribute to gonadotroph adenoma development. Recent reports indicate a role of miRNAs in the pituitary adenoma pathogenesis.Objective: To evaluate the expression of MEG3, DLK1, GST...

Introduction: miR143 and 145 seem to be involved in the pathogenesis of cortitotrophinomas by modulating the expression of MAPK7 and CCNL1 genes, which protein products are involved in cell proliferation, differentiation, and cell cycle progression. Objective: To analyze the modulation of miR-143 and -145 in the expression of MAPK7 and CCNL1 genes in corticotrophinomas and corticotrophic tumoral lineage (AtT20).Material and Methods: The expression of MAP...

Introduction: Neuroendocrine lesions in the thyroid gland are uncommon. The differential diagnosis usually includes medullary thyroid carcinoma, paraganglioma and metastases. There are few non-conclusive reports of primary neuroendocrine carcinomas of the thyroid.Clinical case: A 49-year-old woman with a past medical history for familial hypercholesterolemia and right oophorectomy for mature teratoma with struma ovarii, was evaluated for a rapidly growin...

Introduction: Thyroid surgery is nowadays associated with low morbidity and extremely low mortality. A consistent association has been observed between high surgical volume and better outcomes. Patients who undergo surgery by a skilled surgeon have fewer complications. On the other hand, different surgical techniques have been associated with different outcomes. Since 1997, thyroid diseases are treated in our department by a multidisciplinary team.Object...

Introduction: Fine needle aspiration biopsy (FNAB) plays an essential role in the evaluation of thyroid nodular disease (TND). It reduces the rate of unnecessary thyroid surgery for patients with benign nodules, and allows the choice of the appropriate surgery. In our department, 2124 FNAB were performed in 10 years. 60% of them are now ultrasound guided (UGFNAB).Objective: To access the accuracy of FNAB in our hospital.Methods: Re...

Introduction: ‘PreDiabetes’ was considered as a categories of increased risk for diabetes on the last ADA recommendations in 2010. The proposed diagnostic criteria include an HbA1c value between 5.7 and 6.4%, impaired fasting glucose (IFG) (100–125 mg/dl) and impaired glucose tolerance (IGT) levels (2-h values in the oral glucose tolerance test (OGTT) of 140 to 199 mg/dl). The HbA1c as new diagnostic criteria may actually increase the number of patients diagnose...

Introduction: Discontinuation of GH therapy in patients with COGHD after attainment of final height has been associated with impaired somatic development, altered peak bone mass and cardiovascular risk factors. A well-managed transition of care between paediatric and adult health services can improve the clinical and social outcomes in adolescents with GHD.Objective: To assess the quality of the transfer between children and adult medical services in our...

Background: The androgen-secreting tumors constitute fewer than 1% of ovarian tumors. Leydig cell tumor is one of the most common of this type of lesion and it is usually benign, small and unilateral.Case report: A 67-year-old women was referred to the Endocrine clinic due to hirsutism (score 22 Ferriman–Gallwey) and male type alopecia with 3 years of evolution and progressive worsening. Biochemically she had high levels of serum testosterone –...