Endocrine Abstracts

Introduction: Multiple Endocrine Neoplasia Syndrome 2B (MEN 2B) is a very rare genetic disorder which affects the thyroid and the adrenal glands, the development of mucosal neuromas and the general appearance of the patient’s body. Therefore, we can encounter Medullary Thyroid Carcinomas (MTC), adrenal sympathetic paragangliomas (or Pheochromocytomas) and habitus Marfanoid. The disease represents a challenge for every clinician, especially if it occurs in a child.<p c...

Background: Differentiated thyroid cancer (DTC) encompases a wide spectrum of disease from clinically insignificant micro-tumors to aggressive cancers. The molecular signature can be used to predict tumor behaviour, and the co-existence of BRAF and TERT promoter mutations has been identified as a marker of adverse prognosis, but we have yet no available molecular data for the Romanian population.Objectives: To determine the prevalence of BRAF V600E and T...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by germline mutations of MEN1 gene, without genotype–phenotype correlation. It is defined as the occurrence of two or more primary neuroendocrine tumors (parathyroid, enteropancreatic, pituitary), or the occurrence of one of the MEN1-associated tumors in family members of a patient with a clinical diagnosis of MEN1. Multiple parathyroid tumors with hyperparathyroidism are the most common m...

Introduction: RET proto-oncogene is situated on chromosome 10 and encodes a tyrosine kinase receptor. A germline mutation of RET leads to the appearance of MEN 2 syndrome or familial medullary thyroid carcinoma (MTC). One of the most common germline mutation occurs in codon 634. Pheochromocytoma penetrance for codon 634 mutation was demonstrated to increase with age up to 88% by age 77 years.Aim: To present two familial cases of RET mutation illustrating...

Background: Surgery is the standard treatment in patients with medullary thyroid carcinoma (MTC), 43% being biochemically cured postoperative in a large series, the most important prognostic factor being the stage of the disease.Material and methods: We present 3 cases of biochemical cured patients after surgery with different preoperative presentation. Calcitonin and carcinoembryonic antigen (CEA) were measured by chemiluminescence. Histological examina...

The coexistence of Graves disease (GD) and thyroid carcinoma used to be considered uncommon, but association between the two is being progressively acknowledged. Case report: We present the case of a 69-year-old woman with a 10 year history of GD who was referred to our clinic for fatigue, sweating, palpable cervical mass and weight loss. She was treated only in the previous 5 months with block and replace therapy. Laboratory workup at admission showed s...

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...

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

Medullary thyroid carcinoma (MTC) is a rare malignancy arising from parafollicular C cells of the thyroid gland, sometimes due to germline mutations in the RET protooncogene. Testicular cancer is the most common malignancy in men aged 15 - 40 years with survival rates improved by the introduction of cisplatin therapy in the late 1970s. Nonetheless, platinum-based chemotherapy was shown to increase the risk of a solid second cancer with substantially increased site-specific ris...