Endocrine Abstracts

Introduction: Acromegaly is a chronic, debilitating disorder caused by excessive growth hormone (GH) production predominantly due to a benign pituitary adenoma. The overall annual incidence of acromegaly is approximately 3.3 cases/million, with a prevalence of 58–130 cases/million people. Early carbohydrate metabolism disorders (ECMDs) are frequently associated with acromegaly. ECMDs – defined as IFG, IGT or their combination – its prevalence in patients with ac...

Introduction: In recent years, more attention is driven to the cause of hereditary forms of pituitary adenomas. Although for most cases causal genes are not discovered yet, AIP mutations are the most prevalent.Materials and Methods: Case descriptions, high-parallel sequencing using a gene panel (MEN1, CDKN1B, PRKAR1A, GNAS, AIP, SDHA, SDHB, SDHS, SDHD, PRKCA, CDKN2C, CDKN2A, POU1F1, PTTG2).Case description: Index ...

Introduction: Most of the work on the analysis of molecular genetic defects in pituitary adenomas devoted to the study of 1–2 candidate genes. The high-performance parallel sequencing is more promising.Materials and Methods: There were a total of 26 families (58 patients, 36 (62.1%) men and 22 (37.9%) women) with pituitary adenomas secretion of various types. The number of families with homogenous type was 17 (somatotropinomas 13, prolactinomas 2, c...

Introduction: FIPA- is a syndrome which includes pituitary adenomas with any kind of secretion in two or more members in a family in the absence of MEN or Carney complex; it also includes isolated family somatotropin syndrome (IFS).Aim: Molecular genetic study of a gene panel in FIPA patient.Materials and methods: Study included 1 family (2 men, 24 and 58 years) with pituitary adenomas with homogeneous secretion type — somatot...

Case description: A 26-year-old female visited an endocrinologist for the first time in 2014 with complaint of neck swelling. Lab results revealed increased blood level of TSH, initially the diagnosis of hypothyroidism was set and levothyroxine therapy was initiated with consequent addition of thiamazole due to increasing levels of free T4 and TSH. In 2015 the diagnosis of TSH-secreting adenoma was made on the basis of MRI findings (pituitary microadenoma 3.1 mm in size) and l...