45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

• Egile Nagusiak: Qiang Zhang (Egilea), Xiaoxiao Chen (Egilea), Yanyan Cao (Egilea), Yun Zhou (Egilea), Yingye Liu (Egilea), Lijun Liu (Egilea), Lei Liu (Egilea), Xiaowei Cui (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2024-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidis...