Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

Abstract

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du­plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

Hyperandrogenism in a girl with Turner syndrome

“…Y chromosome material [2] has been reported existing in about 10% of TS patients. Patients who have signs of virilization or marker chromosome are suggested to do a test for Y chromosome material.…”

“…For patients with TS syndrome, the excessive androgen may come from gonad after excluding adrenal disease. The content of Y chromosome material in peripheral blood is different from that of the gonads or other body tissues, [2] so it does not matter that the screen of Y chromosome material is positive or negative, when combining with hyperandrogenism, it's necessary to do bilateral adnexectomy.…”

“…Previously the ovaries of patient with TS were thought to be funicular [1] with no necessity to do surgical resection. However, in recent years, it is reported that 10% of TS patients [2] have Y chromosome material. The presence of Y chromosome material increases the risk of gonadoblastoma.…”

Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report

“…TS patients are characterized by short stature, broad chest, low posterior hairline, prominent ears, narrow and acutely arched palate, lack of pubertal onset at adolescence, and presence of streak ovaries with normal intelligence[ 3 ]. Monosomy X is the most common karyotype observed in patients with TS (50%-60%), in addition to other structural abnormalities in the X chromosome or mosaicism karyotype reported[ 4 - 6 ]. Additionally, the presence of Y chromosome material has been reported in about 10%-18% of patients.…”

“…The role of the Y chromosome in human tumorigenesis remains controversial. However, the risk of virilization during puberty, gonadoblastoma, and malignant transformation increases by 7%-10% when Y chromosome material is present in gonadal tissue or peripheral blood in TS patients[ 4 , 7 , 8 ].…”