A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Müllerian structures. At 3.5 months, the child was operated for right-sided incarcerated hernia, and the gonad situated at the inguinal region was biopsied and classified as primitive testis. Based on the presence of Müllerian structures, anatomy of external genitalia and wish of the parents, the child was assigned female gender. She underwent removal of the left gonad at 4 months during another acute surgery; histology was similar to the right gonad. The rest of the right gonad was removed at 16 months, and feminizing genitoplasty took place at 3 years. The right and left gonad contained 28 and 22% of cells with a Y chromosome, respectively. During further histological examination, dysgenetic features of the gonads were discovered. Some germ cells displayed abnormal development based on the specific expression of immunohistochemical markers (OCT3/4, TSPY, KITLG), indicating a possible risk for future malignant germ cell tumor development. Contribution of the 45,X cell line to the phenotype was also observed: the patient developed celiac disease, and her growth pattern resembled that of Turner syndrome responding to growth hormone treatment.

Gonadal dysgenesis, Gonadal histology, KITLG, OCT3/4, Phenotype
dx.doi.org/10.1159/000356173, hdl.handle.net/1765/64151
Sexual Development
Department of Pathology

Kaprová-Pleskačová, J, Snajderova, M, Stoop, J.A, Koudova, M, Kocarek, E, Novotna, D, … Looijenga, L.H.J. (2013). 45,X/46,X,psu dic(Y) gonadal dysgenesis: Influence of the two cell lines on the clinical phenotype, including gonadal histology. Sexual Development, 7(6), 282–288. doi:10.1159/000356173