ESPE Abstracts (2015) 84 P-3-797

ESPE2015 Poster Category 3 DSD (31 abstracts)

Screening for Y Microdeletions in Patients with Hypergonadotropic Hypogonadism due to Disorder of Sexual Development

Murat Karaoglan , Mehmet Keskin & Ozlem Keskin

Gaziantep University, Gaziantep, Turkey

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Aim of this study is to screen presence of Y microdeletion in hypergonadotropic hypogonadism and to investigate relationship between disorder of sexual development.

Method: All patients (n: 66) were monitored by Pediatric Endocrinology Clinic of Medical Faculty of Gaziantep University. They had disorders of sexual development.

Findings: Of 66 all hypergonadotropic hypogonadism, 41 had female kartotype, 25 had male karyotype.of all patients, 34 choromosome abnormalities (28 Turner syndrome, four Klinefelter syndome, two Noonan Syndrome) 15 testicular differentation defects (11 anorchia, four atrophia), six testesteron synthesis defect, 11 ovarian agenesis or dysgenesis. Of 46,XY karyotype, six had complet female phenotype (Snicker five point), eight had ambiquous genitale (Snicker three points), one Turner syndrome had ambiquous genitale. Of all patients, 7 (%10.6) had Y microdeletion (two Turner syndrome; five had 46,XY karyotype).

Conclusion: Y microdeletion can associate associated hypergonadotropic hypogonadism due to disorder of sexual development. We consider that Y microdeletion may be related to sexual ambiquity or aggravate its severity.

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