Results 41 to 50 of about 5,346 (170)

Broader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations

Andrology, EarlyView.
ABSTRACT Background Familial clustering of testicular germ cell tumour (TGCT) is well‐established, whereas the risk of non‐testicular cancer among relatives remains inconsistent across studies. Objective To evaluate the overall and site‐specific cancer risk among first‐degree relatives and grandparents of TGCT patients compared to cancer‐free controls.
Csilla Krausz, Chiara Abrardo, Viktoria Rosta, Daniel Moreno‐Mendoza, Luca Bressan, Matteo Vannucci, Rebecca Passerotti, Arianna Meacci, Ginevra Farnetani, Viola Bonini, Giovanni Corona, Maria Grazia Fino, Eduard Ruiz‐Castañé, Antoni Riera‐Escamilla   +13 more
wiley   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

The XY female and SWYER syndrome

Urology Case Reports, 2019
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential.
Karine F. Meyer, Luiz G. Freitas Filho, Karina I. Silva, Pedro A. Trauzcinsky, Cristina Reuter, Maria Beatriz M. Souza   +5 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, EarlyView.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

Successful triplet pregnancy in an African with pure gonadal dysgenesis: A plus for assisted reproduction

Asian Pacific Journal of Reproduction, 2015
Gonadal dysgenesis represents a congenital developmental disorder of the reproductive system, with its main gynaecologic manifestations being amenorrhea and infertility. We present a unique case of pure gonadal dysgenesis in an ‘about to be’ married lady
M Aziken, J Osaikhuwuomwan, A Osemwenkha, O Iribhogbe, A Orhue   +4 more
doaj   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

Journal of Human Reproductive Sciences, 2016
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH)
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy   +5 more
doaj   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

Obstetrics and Gynecology International, 2010
Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report.
N. Bousfiha, S. Errarhay, H. Saadi, K. Ouldim, C. Bouchikhi, A. Banani   +5 more
doaj   +1 more source