A 46 XY Phenotypic Female Adolescent With Bilateral Gonadal Tumors Consisting of Five Different Components

Simon, Rebecca; Laughlin, Todd S.; Nuccie, Bonnie; Wang, Nancy; Rothberg, Paul G.; Wang, Xi

doi:10.1097/pgp.0b013e31815d05d4

Cited by 14 publications

(5 citation statements)

References 9 publications

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“…However, patients with classical gonadoblastoma sometimes develop a more aggressive germ cell tumor, including yolk sac tumor, embryonal carcinoma, or immature teratoma [63]. SALL4 is…”

Section: Relationship Of Classical Gonadoblastoma To Malignant Germ Cell Tumorsmentioning

confidence: 99%

Perspectives on testicular sex cord–stromal tumors and those composed of both germ cells and sex cord–stromal derivatives with a comparison to corresponding ovarian neoplasms

2017

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Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2% to 5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between testicular and ovarian SCSTs. For example, large cell calcifying Sertoli cell tumor and intratubular large cell hyalinizing Sertoli cell neoplasia occur in the testis but have not been described in the ovary. In this article, we discuss recently described diagnostic entities as well as inconsistencies in nomenclature used in the recent World Health Organization classifications of SCSTs in the testis and ovary. We also thoroughly review the topic of neoplasms composed of both germ cells and sex cord derivatives with an emphasis on controversial aspects. These include "dissecting gonadoblastoma" and testicular mixed germ cell-sex cord stromal tumor (MGC-SCST). The former is a recently described variant of gonadoblastoma that sometimes is an immediate precursor of germinoma in the dysgenetic gonads of patients with a disorder of sex development. Although the relationship of dissecting gonadoblastoma to the previously described undifferentiated gonadal tissue is complex and not entirely resolved, we believe that it is preferable to continue to use the term undifferentiated gonadal tissue for those cases that are not neoplastic and are considered to be the precursor of classical gonadoblastoma. Although the existence of testicular MGC-SCST has been challenged, the most recent evidence supports its existence; however, testicular MGC-SCST differs significantly from ovarian examples due to both genetic and epigenetic factors.

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“…However, patients with classical gonadoblastoma sometimes develop a more aggressive germ cell tumor, including yolk sac tumor, embryonal carcinoma, or immature teratoma [63]. SALL4 is…”

Section: Relationship Of Classical Gonadoblastoma To Malignant Germ Cell Tumorsmentioning

confidence: 99%

Perspectives on testicular sex cord–stromal tumors and those composed of both germ cells and sex cord–stromal derivatives with a comparison to corresponding ovarian neoplasms

2017

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“…First and foremost, potentially life-threatening factors must be promptly eliminated. In the current case, gonadal histopathology revealed the presence of GD with rightsided adenoblastoma, which might have had the potential to transform into a germ-cell malignancy such as embryonic carcinoma, yolk sac tumor, immature teratoma, or choriocarcinoma (19). Therefore, the gonad on the affected side was removed immediately after diagnosis to prevent the development of a malignant gonadal tumor.…”

Section: Discussionmentioning

confidence: 79%

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene

Xu¹,

Su²,

Zhang³

et al. 2020

Transl Pediatr

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The sex-determining region Y (SRY) gene is a key gene involved in male sex differentiation and development. Patients with 46,XY disorders of sex development related to mutations in the high mobility group (HMG) box typically present with complete gonadal dysgenesis. In this study, we report a case of novel missense mutation c.T281G within the HMG domain of SRY in a 15-year-old patient of the female gender with 46,XY partial gonadal dysgenesis (PGD). The novel missense mutation caused the substitution of codon 94 for leucine in the HMG box of the SRY protein with an arginine codon. Leucine and arginine are aliphatic amino acids, and three-dimensional protein structure prediction revealed only slight structural changes in the SRY protein. Thus, the SRY protein had maintained some of its functions, and the patient presented with PGD. In conclusion, we identified a novel SRY mutation in a patient with 46,XY PGD.Based on the protein model, we believe that the mutation in the HMG domain helped to maintain the partial function of the SRY protein. The condition of our patient differed from the well-known 46,XY complete gonadal dysgenesis caused by mutations in the HMG region. In fact, this is the first case of 46,XY PGD caused by mutations in the HMG region to be reported, and therefore, our experience has expanded the mutation spectrum of the SRY gene. Furthermore, the present case demonstrates that mutations located in the HMG domain of SRY gene cannot be ruled out in patients with a clinical diagnosis of 46,XY PGD.

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“…A gonadoblastoma usually arises in dysgenetic gonads with a Y chromosome 9,10 . Seventy five percent of the gonadal tumors arising in dysgenetic gonads are gonadoblastoma, 11 or a Y chromosome was detected in more than 90% of the gonadoblastoma cases reviewed by Scully 12 .…”

Section: Discussionmentioning

confidence: 99%

Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype

Yılmaz¹,

Güngör²,

Bayramoǧlu

et al. 2010

J of Obstet and Gynaecol

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Gonadoblastoma is a rare gonadal tumor with tumor cells arranged in nests surrounded by ovarian stroma containing Leydig or lutein-type cells. In 50% of the cases, there is an overgrowth of germ cells with progression to dysgerminoma. A case of gonadoblastoma with coexisting dysgerminoma developing in both ovaries of a 20-year-old girl who had increased abdominal girth is presented here. A pelvic mass measuring 20 x 14 cm was detected by pelvic ultrasonography. Bilateral salphingo-oophorectomy was performed. The histopathological report revealed bilateral gonadoblastoma with coexisting dysgerminoma. After surgery the patient received radiation and chemotherapy (BEP: bleomycin, etoposide, cisplatin) and was started on hormone replacement therapy. Five years and eight months after treatment, the patient is well and free of recurrence.

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A 46 XY Phenotypic Female Adolescent With Bilateral Gonadal Tumors Consisting of Five Different Components

Cited by 14 publications

References 9 publications

Perspectives on testicular sex cord–stromal tumors and those composed of both germ cells and sex cord–stromal derivatives with a comparison to corresponding ovarian neoplasms

Perspectives on testicular sex cord–stromal tumors and those composed of both germ cells and sex cord–stromal derivatives with a comparison to corresponding ovarian neoplasms

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene

Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype

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