Results 101 to 110 of about 1,174,652 (161)

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

, 2011
Context: The Wilms' tumor suppressor gene (WT1) is one of the major regulators of early gonadal and kidney development. WT1 mutations have been identified in 46,XY disorders of sex development (DSD) with associated kidney disease and in
Wieacker, Peter, Köhler, Birgit, M. Pohl, Maier, Rolf, B. Köhler, J. Gellermann, Friedsam, V., P. Wieacker, Gellermann, Jutta, O. Hiort, H. Krude, Hiort, Olaf, V. Friedsam, Grüters-Kieslich, Annette, Krude, Heiko, R. F. Maier, H. Biebermann, Biebermann, Heike, Pohl, Martin, A. Grüters   +19 more
core   +1 more source

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis

Molecular Cytogenetics
Background Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs).
Arash Salmaninejad, Zahra Yaghoubi, Tahereh Haghzad, Maryam Latifi, Reza Bayat, Somaye Esnaashari, Setila Dalili   +6 more
doaj   +1 more source

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

Molecular Genetics & Genomic Medicine
Background 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases.
Wei Jiang, Jing Yu, Yu Mao, Yunman Tang, Li Cao, Qin Du, Jianan Li, Jiyun Yang   +7 more
doaj   +1 more source

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. [PDF]

Clin Genet, 2023
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR.   +14 more
europepmc   +1 more source

Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency. [PDF]

Mol Med Rep, 2022
Cheng Y, Xu C, Yang J, Zhou X, Chen N.
europepmc   +1 more source

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma. [PDF]

Endocr Connect, 2021
Arya S, Kumar S, Lila AR, Sarathi V, Memon SS, Barnabas R, Thakkar H, Patil VA, Shah NS, Bandgar TR.   +9 more
europepmc   +1 more source

Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report. [PDF]

BMC Pregnancy Childbirth, 2023
Xie C, Cai J, Li N, Hua P, Yang Z, Yu X, Tang D, Hu Y, Liu Q.   +8 more
europepmc   +1 more source

Ultrasonography for disorders of sex development in pediatrics

Frontiers in Pediatrics
ObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu, Anqi Tao, Jigang Jing, Hua Zhuang   +3 more
doaj   +1 more source

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Machado, AZ, Mendonca, BB, Gomes, NL, Montenegro, LR, Nishi, MY, Lin, L, da Silva, TE, Frade Costa, EM, Domenice, S, Achermann, JC, Correa, RV, Silva, RB, Ferreira, FM, Ferraz-de-Souza, B, Narciso, A, Lerario, AM   +15 more
core  

Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report. [PDF]

Gynecol Oncol Rep, 2021
Thakur S, Saha SC, Sikka P, Das CK, Arpitha K, Thakur UK.   +5 more
europepmc   +1 more source