Results 51 to 60 of about 5,340 (169)

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]

PLoS ONE, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga   +14 more
doaj   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, Volume 14, Issue 5, Page 1155-1163, July 2026.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Iranian Journal of Medical Sciences, 2017
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj  

Semen Cryopreservation in Testicular Cancer: Before or After Orchidectomy?

Andrology, Volume 14, Issue 5, Page 1272-1281, July 2026.
ABSTRACT Background Fertility preservation in patients with testicular cancer remains a clinical priority, yet the optimal timing for sperm cryopreservation—before or after orchidectomy—remains a matter of debate. Objectives The aim of this study was to determine the optimal timing for semen cryopreservation and the best‐quality sample for ART.
Alessandra Buonacquisto, Carlotta Pozza, Gaia Cicolani, Anna Chiara Conflitti, Luisa Caponecchia, Serena Bianchini, Enrico Delli Paoli, Marta Tenuta, Daniele Gianfrilli, Andrea M. Isidori, Francesco Lombardo, Francesco Pallotti, Donatella Paoli   +12 more
wiley   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Mixed gonadal dysgenesis with normal karyotype : A rare case report

Indian Journal of Pathology and Microbiology, 2010
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay, Gupta Narmada, Singh M, Mathur Sandeep, Nayyar Rishi   +4 more
doaj  

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian Journal of Medical and Biological Research, 2005
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini, J.G. Assumpção, M.R. Scolfaro, M.P. de Mello, A.T. Maciel-Guerra, G. Guerra Júnior, C. Hackel   +6 more
doaj   +1 more source

Social and Anxiety‐Like Behaviors Are Affected in Juvenile Mice With Gli2+/− but Not Gli3+/𝛥699 Genetic Modifications

Brain and Behavior, Volume 16, Issue 6, June 2026.
Across Gli3+/Δ699, Gli2+/−, and combined Gli2+/−;Gli3+/Δ699 mice (males and females, with wild‐type controls), GLI2 and GLI3 differentially regulate anogenital distance and juvenile behavior, with amplified effects under combined disruption, whereas circulating steroids and sexually dimorphic nucleus area remain unchanged. Created in BioRender. Niepsuj,
Thomas Niepsuj, Rithika Nurani, Leykza Carreras‐Simons, Wade Bushman, Joan S. Jorgensen, Walid A. Farhat, Anthony P. Auger   +6 more
wiley   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez, Yessica Agudelo Zapata, Hector Sandoval Alzate, Luis Maldonado Acosta, Juan Manuel Arteaga Díaz, Roberto Franco Vega   +5 more
doaj   +1 more source