gonadoblastoma/virilism

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Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

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The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in

46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas.

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A phenotypic girl with secondary amenorrhea, enlargement of the clitoris, XY gonadal dysgenesis, and bilateral gonadoblastomas is described. The presence of secondary amenorrhea does not obviate the existence of a Y chromosome. The presence of the Y chromosome should be a warning that a gonadal

["Ovarian" disgerminoma with isosexual precocious puberty and subsequent virilization (gonadoblastoma according to Scully)].

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Gonadoblastoma in patient with Turner's syndrome.

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A 15-year-old phenotypic female referred for the investigation of primary ammenorrhea, was found to have a 45,XO karyotype and an ovarian cyst. She demonstrated some of the features of Turner's syndrome, as well as virilization. On laparotomy, she was found to have bilateral gonadoblastomas. She was

A 15-year-old girl with pubertal masculinization due to bilateral gonadoblastoma and 45,X/46,X,+mar karyotype.

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We report the case of a 15-year-old girl with bilateral gonadoblastoma and 45,X/46,X,+mar karyotype. She was short but had no other stigmata of Turner syndrome. Her genitalia were completely of the female type until she began to show signs of masculinization at age 13 years. She had breasts of

Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology.

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Gonadoblastomas (GBYs) are rare gonadal tumors almost always arising from a dysgenetic gonad with a Y chromosome. Very rarely, GBYs appear in otherwise normal women with a history of pregnancy. The typical histological appearance of GBY can be altered by extensive deposition of basement membrane

Gonadal stromal tumors, gonadoblastomas, epidermoid cysts, and secondary tumors of the testis in children.

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Gonadal stromal tumors generally are benign and hormonally silent. When hormonally active, they may cause either virilization or feminization, posing an endocrine threat to the prepubertal boy. Accurate diagnosis is essential to differentiate those tumors that require medical management from those

Hepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome.

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Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular

Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

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Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is

PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations.

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Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of

Mixed gonadal dysgenesis.

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Mixed gonadal dysgenesis is an intersex syndrome characterized by a unilateral streak gonad, persistent müllerian duct structures and ambiguous genitalia. These patients are chromatin negative and exhibit XO/XY mosaicism. The disorder probably results from a cytogenetic error that occurs early in

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue.

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We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood

Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.

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In few cases of Turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism

[Screening for Y chromosome sequences in patients with Turner syndrome].

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The Turner syndrome (TS) has been described in association with different sex chromosome aberrations. Although most TS patients show no evidence of Y chromosome sequences, according to different authors some TS patients may have Y chromosome material present in a few cells that are not detected by

45,X/46,XY mosaicism. A clinical review and report of ten cases.

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The clinical findings in ten patients with 45,X/46,XY mosaicism are described. Three girls presented with short stature, delayed sexual development or Turner-like stigmata without signs of virilization. Bilaterally gonadoblastomas were found in two girls, and the gonads in one of these girls also

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