Endocrine Abstracts

Introduction: The pathogenesis of pituitary adenomas is incompletely understood. It was recently demonstrated that mutations in AIP, a novel tumor suppressor gene, are causing the familial isolated pituitary adenoma syndrome. Although initial data suggested that AIP mutations are rare in non-familial cases, a recent study demonstrated an increased prevalence in young sporadic macroadenoma patients.Aim: To perform a systematic screening of AIP mutations i...

Background: Hirsutism is a major feature of the polycystic ovary syndrome (PCOS) and the only accepted clinical sign of hyperandrogenism for its diagnosis, according to the androgen excess society (AES) recommendations. Previous studies demonstrated that hirsutism can be influenced by factors other than hyperandrogenism per se.Aim: To detect factors influencing hirsutism severity in PCOS.Patients and methods: Hundred and sev...

Introduction: The polycystic ovary syndrome (PCOS) and obesity are related, yet different complex diseases, with the same genes possibly playing different roles in each disease. INSIG2, an obesity-associated gene (by rs7566605 C/C genotype) is a good candidate for PCOS. Its genotypes were not associated with obesity in PCOS patients. To date, there are no published association studies of rs7566605 with PCOS itself.Aim: To perform a case-control associati...

Introduction: Monoclonality of pituitary adenomas is an established fact. Still, there are exceptions and polyclonality may correlate with aggressive tumor behavior. In order to test association of clonality with pituitary adenoma characteristics in a series from Romania, we implemented a protocol for X-chromosome inactivation analysis at the androgen receptor (AR) locus (HUMARA) and validated it in a number of tumor samples.Objective: To establish and v...

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...

Introduction: The MEN1 syndrome is caused by inactivating mutations of MEN1, a tumor suppressor gene encoding menin. A sporadic presentation is relatively rare (8-14%) and could be due to de novo mutations.Aim: To present an MEN1 case diagnosed following a routine consultation for amenorrheaCase presentation: A 44-year-old female presented with secondary amenorrhea and a history of complicated renal lithiasis requiring rep...

Background: Higher anti-Müllerian hormone (AMH) values are associated with polycystic ovary syndrome (PCOS) and AMH is proposed as a marker of PCOS, however, the optimal diagnostic threshold is not yet defined.Aim: To study the significant correlations of AMH in PCOS and the accuracy and threshold of AMH for the PCOS diagnosis in Romania.Subjects and methods: Serum AMH, TT, LH, FSH, fasting glucose and insulin (Ins), HOMA-IR a...

Background: Recent data highlight the role of anti-Müllerian hormone (AMH) to trigger the neuroendocrine abnormalities involving GnRH and secretion of gonadotropins in polycystic ovary syndrome (PCOS).Aim: To study factors significantly correlated with neuroendocrine dysfunction in PCOS, with focus on AMH.Subjects and methods: We performed a cross-sectional study in 137 patients with PCOS selected by Rotterdam 2003 criteria an...