Clinical features and Y chromosomal abnormalities in patients with karyotype chimerism of 45, XO/46, XY

Abstract

Objective To increase the knowledge of clinical features and Y chromosomal abnormalities in patients with mosaic karyotype 45,XO/46,XY.Methods The clinical features,peripheral lymphocyte karyotype,sex hormones,treatment,and follow-up information were retrospectively reviewed.Results (1) 7 patients with 45,XO/46,XY were included.Their social gender was 3 male and 4 female,and the age by diagnosis was (14 ± 3) years (range 11-20 years).(2) Patients presented with short stature (n =7) and other specific somatic signs similar to Turner's syndrome.(3) The external genitalia varied from complete male to complete female manifestations.There were normal penis (n =1),hypospadia (n =2),enlarged clitoris and combined opening with ureter and vagina (n =1),and wholesome vagina opening (n =3).By physical examination and ultrasound,testes were detected in 3 patients,1 patient had testes and ovary-like gonad,and 1 had ovary-like gonad,and no gonads were detected in 2 patients.(4) Among 7 patients,4 had obviously abnormal Y chromosome.1 patient had micro-deletion on Y chromosome by Multiplex Ligation Dependent Probe Amplification (MLPA).(5) 4 patients had therapy with (rhGH).Gonads were removed from P4,showing ovary-like tissue.3 patients received sex hormone replacement.Conclusion Patients with 45,XO/46,XY mosaic karyotype manifest short stature and other clinical features of Turner's syndrome.The presence of testis may result in different extent of virilization.The mosaic karyotype and failure of spermatogenesis may be caused by abnormal Y chromosome.Treatment includes rhGH therapy,removal of dysgenic gonads and hormonal replacement. Key words: 45, XO/46, XY ; Turner's syndrome ; Karyotype ; Y chromosome