Results 51 to 60 of about 1,721 (201)
Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl
Педиатрическая фармакологияSwyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first
Irina V. Karachentsova +7 more
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Management of recurrent dysgerminoma arising in a dysgenetic gonad
Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2018 Gonadoblastomas are rare gonadal tumors, arising from a dysgenetic gonad with a Y chromosome. These tumors may manifest as dysgerminomas and if not appropriately managed can lead to disastrous consequences.
Himadri Bal +2 more
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Case Reports in Genetics, Volume 2026, Issue 1, 2026.Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed +11 more
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Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
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, 2017 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.
김호성, 권아름, 채현욱
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Histopathology, Volume 87, Issue 5, Page 660-676, November 2025.FH immunohistochemistry is recommended in clinically malignant Leydig cell tumours and in primary Leydig cell tumours with aggressive histopathologic features. Aims Testicular sex cord‐stromal tumours (TSCSTs) are relatively rare, accounting for ~5% of all testicular neoplasms.
Andres M Acosta +21 more
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Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.
, 2015 Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome.
Yüce, Özge +6 more
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Prenatal Diagnosis, Volume 45, Issue 4, Page 572-575, April 2025.ABSTRACT We report a case of a male fetus with early‐onset macrosomia and a pathogenic variant in PTEN identified on a macrocephaly and overgrowth sequencing panel. The pregnancy ended at 25 weeks gestation. On post‐mortem examination, macrosomia was confirmed, and maturation of the brain was approximately 3 weeks ahead of that of the visceral organs ...
Danielle C. Lynch +2 more
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Gonadoblastoma in Androgen Insensitivity Syndrome A Case Report
, 2003 We report a case of androgen insensitivity syndrome (AIS) characterized by malignant degeneration of the testes consisting of gonadoblastoma and dysgerminoma.
Luigi Cobellis +6 more
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Swyer Syndrome : A Case Report with Literature Review
Journal of Nepal Medical Association, 2012 Gonadoblastomas are known to develop in dysgenetic gonads, especially so, if Y chromosome material is present. A 20-years- old girl who noticed breast development since the age of 12 years presented with primary amenorhoea, distension of lower abdomen ...
R Patnayak +6 more
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