Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep118 | Pituitary and growth | BSPED2015

Mosaic form of Turner’s can be associated with normal stature and spontaneous puberty: a case report.

Park J , Losa I

Background: Turner’s syndrome is the most common sex chromosome abnormality in females resulting from a 45,X cell line. A mosaic chromosomal complement (e.g. 45,X/46,XX) is detectable in over half of all patients with Turner’s. Characteristically girls with Turner syndrome have a short stature attributable to the presence of SHOX (short stature homeobox-containing gene on the X chromosome) gene. Most affected women have no pubertal development and primary am...