Results 41 to 50 of about 2,312 (175)
Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy
Andrology, EarlyView.ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby +10 more
wiley +1 more source
Biochemistry and Biophysics Reports, 2017 DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui +3 more
doaj +1 more source
Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome
Andrology, EarlyView.ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor +6 more
wiley +1 more source
Testicular Regression Syndrome: a case report
Autopsy and Case Reports, 2012 Testicular Regression Syndrome (TRS) is defined as the absence or an incomplete development of the testis of varying degrees in 46XY patients with normal external genitalia. The prevalence ranges from 3-20% of cases previously diagnosed as cryptorchidism.
Christiana de Freitas Vinhas +2 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: Desert hedgehog (DHH), as a member of the Hedgehog (HH) family, is mainly involved in testicular development and peripheral nerve sheath formation.
Lili Pan +9 more
doaj +1 more source
Endometrial cancer in a woman with 46,XY pure gonadal dysgenesis
Journal of Obstetrics and Gynaecology, 2014 Swyer syndrome is a pure gonadal dysgenesis (GD), in which an individual with a 46,XY genotype is born with female genital anatomy.
D, McGregor +5 more
openaire +2 more sources
Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung +6 more
doaj +1 more source
Children, 2023 Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (
Qing Shao +5 more
doaj +1 more source
Health Science Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background and Aims Malignant ovarian germ cell tumors (MOGCTs) are aggressive cancers affecting mainly young women, in whom fertility preservation is important. Diagnosis is often delayed because early symptoms are non‐specific, leading to advanced disease or emergency surgery that may limit optimal staging and fertility‐sparing treatment. As
Jila Agah +3 more
wiley +1 more source
Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2021 NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility.
Antonella Gambadauro +5 more
doaj +1 more source