Endocrine Abstracts

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

We made a retrospective study of X monosomy cases identified in our laboratory in the last 10 years. The aim of study was to establish a correlation between different forms of X monosomy, and age for confirmation of cytogenetic diagnosis. Between 2010 and 2019 we confirmed 81 cases of Turner syndrome in our laboratory. We found different forms of X monosomy and the most frequent was X homogenous X monosomy. We found 24 cases (29.62%) of X homogenous monosomy (median age of dia...