Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep913 | Neuroendocrinology | ECE2017

Clinical case description of family with hereditary pituitary adenoma

Tarasova Tatiana , Pigarova Ekaterina , Dzeranova Larisa , Tulpakov Anatoly , Dedov Ivan

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 ...

ea0049ep914 | Neuroendocrinology | ECE2017

Molecular and genetic basis of the disease in families with pituitary adenomas

Tarasova Tatiana , Pigarova Ekaterina , Dzeranova Larisa , Tulpakov Anatoly , Dedov Ivan

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...