Results 61 to 70 of about 1,949 (196)

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

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, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

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, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl

Педиатрическая фармакология
Swyer 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, Elena V. Sibirskaya, Tatyana G. Dyadik, Mariia Yu. Chernysheva, Kristina A. Osmanova, Varvara M. Golubkova, Anna V. Arutunyan, Angelina A. Sysoeva   +7 more
doaj   +1 more source

Assessment and classification of sex cord‐stromal tumours of the testis: recommendations from the testicular sex cord‐stromal tumour (TESST) group, an Expert Panel of the Genitourinary Pathology Society (GUPS) and International Society of Urological Pathology (ISUP)

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, Maurizio Colecchia, Eva Comperat, Kristine M Cornejo, Anthony J Gill, Sounak Gupta, John C Cheville, Muhammad T Idrees, Chia‐Sui Kao, Fiona Maclean, Andres Matoso, Maria Rosaria Raspollini, Kvetoslava Michalova, Miguel Reyes Múgica, Satish K Tickoo, Toyonori Tsuzuki, Thomas M Ulbright, Sean R Williamson, Stephanie Siegmund, Lynette M Sholl, Pilar Gonzalez‐Peramato, Daniel M Berney   +21 more
wiley   +1 more source

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy

, 2022
Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS
Papagianni, M., Kollios, K., Stabouli, S., Kosta, K., Karipiadou, A., Roilides, E., Savvidou, P., Traeger-Synodinos, J.   +7 more
core  

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, V Suresh, A Jena, B Vijayalakshmi, AP Reddy, M Rukumangadha, A Sachan   +6 more
doaj   +1 more source

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

Indian Journal of Pathology and Microbiology, 2016
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
Maithili Mandar Kulkarni, Siddhi Gaurish Sinai Khandeparkar, Avinash R Joshi, Pallavi V Bhayekar   +3 more
doaj   +1 more source

Early‐Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant

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, Anna F. Lee, Alison M. R. Castle   +2 more
wiley   +1 more source

GÔNADAS DISGENÉTICAS; GONADOBLASTOMA, LAPAROSCOPIA, GONADECTOMIA

Clinical and Biomedical Research, 2022
Mulheres com cariótipo XY e gônadas em fita são consideradas portadoras de disgenesia gonadal. Essas pacientes apresentam um risco mais alto de desenvolver doenças nas gônadas. Em tais casos, a remoção cirúrgica profilática é indicada.
João Sabino L. da Cunha-Filho, Carlos Souza Souza, Fernando Freitas, Letícia F. Terres, Daniela Vettor, Eduardo Pandolfi Passos, Têmis Felix, Sharbel Maluf   +7 more
doaj  

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

BMC Medical Genetics, 2010
Background Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue.
Batra Swaraj, Haque Shameemul, Khalil Hesham, Dhillon Varinderpal S, Shahid Mohammad, Husain Syed, Looijenga LHJ   +6 more
doaj   +1 more source