Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma

Mukerji, B; Balshan, Eli; Haderer, Robert; Shertz, Wendy; Graebe, Robert

doi:10.1177/1093526617690291

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…Although pathologic examination was not conducted, the mass was likely a benign ovarian tumor. Mukerji et al [ 22 ]. established a close relationship between TS and germ cell tumors.…”

Section: Discussionmentioning

confidence: 99%

Turner syndrome with primary myelofibrosis, cirrhosis and ovarian cystic mass: A case report

Xu¹,

Su²,

Tao³

2022

WJCC

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BACKGROUND Turner syndrome (TS) with leukemia is a complicated clinical condition. The clinical course and outcome of these patients are poor, so the treatment and prognosis of TS with hematological malignancies deserve our attention. CASE SUMMARY Here, we report a case of a 20-year-old woman diagnosed with TS, primary myelofibrosis (PMF), cirrhosis, and an ovarian cystic mass. This is the first report on the coexistence of TS and PMF with the MPL and SH2B3 mutations. The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant. The patient was treated with the JAK2 inhibitor-ruxolitinib according to peripheral blood cells, although myelofibrosis was improved, the splenomegaly did not reduce. Moreover, hematemesis and melena occasionally occurred. CONCLUSION Ruxolitinib may clearly reduce splenomegaly. Though myelofibrosis was improved, cirrhosis and splenomegaly in this case continued to worsen. Effective treatment should be discussed.

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“…Although pathologic examination was not conducted, the mass was likely a benign ovarian tumor. Mukerji et al [ 22 ]. established a close relationship between TS and germ cell tumors.…”

Section: Discussionmentioning

confidence: 99%

Turner syndrome with primary myelofibrosis, cirrhosis and ovarian cystic mass: A case report

Xu¹,

Su²,

Tao³

2022

WJCC

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“…The gonadoblastoma gene (GBY, gonadoblastoma locus on the Y chromosome) is the only oncogene located on the human Y chromosome. It plays a physiological role in normal male testicles and represents the role of oncogenes in hypoplastic gonads (3)(4)(5).…”

Section: Discussionmentioning

confidence: 99%

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

Zhao

Zhang

et al. 2022

Iran J Radiol

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Introduction: 46,XY pure gonadal dysgenesis (PGD) is also known as Swyer syndrome. The chromosome analysis indicates a 46,XY karyotype. As different degrees of gonadal hypoplasia or degeneration occur in the process of embryonic development due to several factors, gonadal dysplasia or gonadal tumors are probable. Case Presentation: The patient was a 22-year-old female with no menstruation during puberty. Her chest was funnel-shaped, the breast development was classified as Tanner III grade, the vulva was normal, the pubic hair was classified as Tanner II grade, and the vaginal long was 6 cm. The endocrine examination indicated a follicle-stimulating hormone level of 95.0 mIU/mL and an estradiol level of 34.0 pg/mL. Tumor markers, including alpha-fetoprotein (AFP), carbohydrate antigen 125 (CA125), carbohydrate antigen 199 (CA199), and carcinoembryonic antigen (CEA), were normal. Dual-energy X-ray absorptiometry revealed that the bone mineral density was lower than the normal range at this age. Ultrasonography showed a hypoechoic mass in the left adnexal area, considering gonadal tissue with calcification. Pelvic MRI indicated a gonadal malignancy, and the gonadal tissue of the right adnexal area was cord-shaped. The chromosome analysis indicated a 46,XY karyotype. Accordingly, a clinical diagnosis of PGD was established. Moreover, laparoscopic gonadectomy and pathological examination were performed, and a final diagnosis of Swyer syndrome, complicated with a left-sided gonadoblastoma and asexual cell tumor, was made. Conclusion: PGD is associated with a high risk of gonadal tumors. Considering the rarity of this disease, a detailed evaluation of gonadal size and timely preventive gonadectomy are recommended for patients with gonadal dysplasia. Overall, imaging examinations can provide important information for the diagnosis of gonadal dysplasia. MRI can clearly indicate the size and shape of the gonads and the tumor, as well as the relationship between the tumor and the surrounding tissue.

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“…7 The presence of the gonadoblastoma (GBY) locus near the Yq centromere in 45,X/46,XY females predisposes to development of such neoplasms. 6,8,9 In particular, the Testis-specific Y-encoded protein 1 (TSPY) gene within the GBY region is thought to promote germ cell tumors in individuals with gonadal dysgenesis. 10 The dicentric nature of the Y chromosome in our patients may provide an extra copy of the TSPY gene, conceivably increasing the risk of neoplasia.…”

Section: Discussionmentioning

confidence: 99%

Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene

2020

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The occurrence of monochorionic diamniotic twins with sex discordance is a very rare phenomenon. We present a case of spontaneously conceived gender-discordant monochorionic diamniotic twins born to a 23-year-old female, both twins demonstrating similar blood karyotype 45,X/46,X, idic(Y) and a novel 99 kb mutation at 3p24.3 involving exons 15–16 of transcript NM_001134381.1 of the Tre-2/Bub2/Cdc16 Domain Family Member 5 ( TBC1D5) gene. The male twin showed no anatomic abnormalities and pelvic ultrasound revealed descended gonads. The female twin had a horseshoe-shaped kidney, normal uterus, and intra-abdominal gonads. The blood karyotype and microarray studies revealed similar distribution of X and isodicentric Y chromosome along with a novel genetic mutation which has not been previously reported. Our case findings not only report Turner syndrome mosaicism with a novel genetic mutation but also stress the importance of clinical follow-up of twins in order to evaluate the functional abnormalities associated with isodicentric Y chromosomes including germ cell tumors.

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Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma

Cited by 5 publications

References 18 publications

Turner syndrome with primary myelofibrosis, cirrhosis and ovarian cystic mass: A case report

Turner syndrome with primary myelofibrosis, cirrhosis and ovarian cystic mass: A case report

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene

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