Endocrine Abstracts (2015) 38 P374 | DOI: 10.1530/endoabs.38.P374

A rare form genetic abnormality in Turner syndrome

Mariana-Cristina Costache-Outas1,2, Camelia Procopiuc3, Oana Popa3, Madalina-Aura Vintila3, Cosmina-Raluca Costache4 & Danai Stambouli5


1‘Carol Davila’ University of Medicine and Pharmacy, Bucharest, Romania; 2‘Coltea’ Clinical Hospital, Bucharest, Romania; 3‘CI Parhon’ National Institute of Endocrinology, Bucharest, Romania; 4‘I Cantacuzino’ Clinical Hospital- Department of Obstetrics and Gynecology, Bucharest, Romania; 5Cytogenomic Molecular Laboratory, Bucharest, Romania.


Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic ultrasound showed the presence of uterus. A G-band chromosomal analysis on peripheral blood lymphocytes was used to perform the karyotype. The classical karyotype was 45,X, der(13)t(13;Y)(q10,q10). Y chromosome material was identified by FISH using a Y centromeric probe. Array CGH was performed with normal male genome as reference and revealed the full deletion of SRY region in the presence of otherwise complete Y chromosome: arrYp11.31(2 565 871–2871,490×0, 3 025 075). From our knowledge this is the first report of a Turner syndrome female due to SRY gene complete deletion and translocation of Y chromosome on autosome.

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