Endocrine Abstracts

Background: Association of differentiated thyroid carcinoma (DTC) and cortisol-producing adrenal adenoma is not part of the classical MEN syndromes. We present a clinical case raising the question of a common etiology for these tumours.Case Presentation: A 58-year-old female presented in 2010 for the investigation of a 6 cm left adrenal tumour incidentally discovered by abdominal CT. Medical history included smoking, obesity, myocardial infarction, hyper...

Introduction: PGs are rare neuroendocrine tumours (NETs), slowly growing, derived from the neural crest cells of the autonomous nervous system. Presenting symptoms are related to catecholamine hypersecretion or to mass effect. The optimal approach is dictated by size, symptoms and anatomical relationship of tumours with neurovascular structures.Aim: To describe a patient with bilateral carotid body and mediastinal carotid body PGs....

Background: Thyroid nodules were reported with high prevalence in acromegalic patients.Patients and methods: 63 acromegalic patients (16 males and 47 females), aged at diagnosis 43.6±12.7 years were retrospectively reviewed. Median duration of acromegaly was 8 years. 25 patients were residents in iodine deficient areas. GH, IGF1, TSH, FT4 were measured by chemiluminescence (Liaison). Thyroid ultrasound was performed. In suspected nodules,...

Background: AIP mutations cause sporadic and familial pituitary adenomas, but establishing the pathogenic role of missense AIP variants with unknown significance is difficult. The AIP interaction partner AHR – a xenobiotic-activated transcription factor – regulates transcription of xenobiotic-metabolising enzymes, mediates xenobiotic toxicity, and has been implicated in tumorigenesis.Aim: To describe the effect of AIP...

Background: Adrenocortical oncocytoma is a veryrare adrenal tumor type, usually nonfunctioning and benign. Neurofibromatosistype 1 (NF1) is an autosomal dominant disease caused by mutations of the NF1 gene encoding neurofibromin, a tumor supressor gene that acts by activating a RAS GTP-ase which negatively regulates RAS activity. NF 1 is usually associated with pheocromocytoma, rarely with adrenal carcinoma, and no association with adrenal oncocytoma has been reported.<p c...

Background: PCOS-associated increased metabolic risk may be selective, owing to its heterogeneous nature. Identification of high-risk individuals could enable better studies and prevention of complications.Aim: To characterize the metabolic risk, as metabolic syndrome (MetS), of specific PCOS subphenotypes.Subjects and methods: Romanian PCOS (Rotterdam criteria) and 64 controls, 18–35 years. PCOS subphenotypes were defined: i)...

Background: A large spectrum of AIP gene mutations has been identified in familial and sporadic pituitary adenomas (PA) with over 70 different mutations described to date. c.47G>A, p.R16H is an AIP exon 1 variant of unknown significance, its contribution to pituitary adenoma development being controversial.Aim: Characterization of p.R16H prevalence in a large Romanian cohort of PA patients and controls.Patients and methods: spo...

Background: Androgen receptor (AR) activity is modulated by the length of CAG-repeat polymorphism in exon 1. Published data suggest association between CAG-repeat alleles and PCOS, but not all studies confirmed this finding.Aim: To test association of AR alleles with PCOS and clinical and biochemical signs of hyperandrogenism.Study design: Case–control association study, approved by the institutional ethical committee, of 137 ...

Background: Angiogenesis are correlated with the aggressiveness, evolution’s rapidity and appearance of the locally advanced and metastatic medullary thyroid cancer (CMT), but in the same time is a selection criteria for actual therapy tested in the clinical studies.Objective: Study of angiogenesis in patients diagnosticated with CMT.Methods: Our study is conducted for 20 patients with sporadic and familial CMT, who are diagno...

Introduction: Bilateral adrenal tumors in patients with adrenal Cushing’s syndrome (CS) are rare, lending to differential diagnosis which includes bilateral macronodular adrenal disease (BMAD), synchronous adrenal adenomas and even adrenocortical carcinoma. The treatment consists of unilateral adrenalectomy, followed by contralateral adrenalectomy, if warranted by persistent significant CS.Aim: To present a case highlighting unilateral adrenalectomy...