hrp0084fc5.5 | Endocrine Oncology/Turner | ESPE2015

Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

Stoklasova Judith , Kaprova Jana , Trkova Marie , Nedomova Vera , Zemkova Daniela , Soucek Ondrej , Matyskova Jana , Sumnik Zdenek , Lebl Jan

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...

hrp0084p1-62 | DSD | ESPE2015

Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

Cools Martine , Wolffenbuttel Katja P , Kaprova Jana , Mendonca Berenice B , Drop Sten LS , Hersmus Remko , Stoop Hans , Gillis Ad JM , Costa Elaine MF , Domenice Soraiah , Wunsch Lutsz , Quigley Charmian , Arlt Wiebke , T'Sjoen Guy , Looijenga Leendert HJ

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...