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...

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...

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...

Introduction: It is known that phaeochromocytoma penetrance in MEN2A syndrome steadily increases with age. In general, MEN2A related pheochromocytomas (PHEOs) have a benign evolution; however, some of them have an aggressive behaviour despite the same genetic background as the benign forms.Aim: To evaluate potential factors that may influence PHEO penetrance and tumor dimensions (age at diagnosis, MTC aggressiveness or genetic status).<p class="abste...