Ovarian gonadoblastoma with dysgerminoma in a girl with 46,xx karyotype 17a-hydroxylase/17, 20-lyase deficiency: a case report and literature review

HIGHLIGHTS

• who: Min Yin from the Metropolitan Hospital, Greece Wageningen University and Research have published the Article: Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review, in the Journal: (JOURNAL)
• what: The authors reported a case of an 11-year-old girl with 46,XX karyotype who initially presented with ovarian gonadoblastoma with dysgerminoma and was finally diagnosed with 17-OHD caused by p.Y329Kfs*90 homozygous pathogenic variant.

SUMMARY

Congenital adrenal hyperplasia (CAH) refers to a group . . .

 



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