Searchable abstracts of presentations at key conferences in endocrinology

ea0056ep142 | Reproductive Endocrinology | ECE2018

Atypical presentation in a patient with 45,X/46,X,i (X) (q10) Isochromosome Xq in mosaic turner syndrome: a case report

Llanes Mark Ramon Victor , Naranjo May

Isochromosome Mosaic Turner Syndrome (IMTS) is a variant of Turner Syndrome (TS) characterized by cytogenetic profile of 1 or more additional cell lineages aside from 45,X, and the presence of a structurally abnormal X chromosome consisting of either two short or two long arms. IMTS is rare, with only 8–9% prevalence among women with TS based on international studies, and 15% of all TS in the Philippines. A 20 year old female came in due to amenorrhea and alopecia. Physic...