Results 81 to 90 of about 56,903 (162)

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development

Biological Research
Background Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues.
Chunlin Wang, Hong Chen, Qingqing Chen, Yangbin Qu, Ke Yuan, Li Liang, Qingfeng Yan   +6 more
doaj   +1 more source

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

UroPrecision, Volume 4, Issue 1, Page 64-68, March 2026.
Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu, Weijing Huang, Jeffrey T. White   +2 more
wiley   +1 more source

Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report

Frontiers in Oncology
BackgroundFamilial 46, XY Disorder of Sexual Development (DSD) was discovered in a Ph+, BCR::ABL1P210+ Acute Lymphoblastic Leukemia (ALL) female with RCBTB2::LPAR6 fusion gene. Siblings developing 46, XY DSD are extremely rare.
Lingling Wang, Conglin Xi, Xinyu Zheng, Yongfen Huang, Hao Xu, Yuqing Miao, Yuexin Cheng   +6 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Molecular and phenotypic features of premature ovarian failure (POF) cases in 46,XY DSD families with NR5A1 mutations.

, 2013
aAll mutations are heterozygous except for c.877G>A (p.D293N).46, XY DSD: 46, XY disorder of sex development; PA: primary amenorrhea; SA: secondary amenorrhea; LBD: ligand binding domain.
Xue Jiao (461117), Li You (124396), Joe Leigh Simpson (461121), Yingying Qin (461118), Guangyu Li (288510), Zi-Jiang Chen (130783), Shidou Zhao (461119), Jinlong Ma (461120)   +7 more
core   +1 more source

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Endocrine Connections, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela   +11 more
doaj   +1 more source

Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development

Frontiers in Endocrinology
The RNA helicase DHX37 gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY
Huifang Peng, Wenyuan Peng, Jiali Chen, Keyan Hu, Yingyu Zhang, Yujin Ma, Hongwei Jiang   +6 more
doaj   +1 more source

46,XY DSD due to impaired androgen production

, 2010
Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT).
MENDONCA, Berenice B., Alicia Belgorosky, BELGOROSKY, Alicia, Sorahia Domenice, RIVAROLA, Marco Aurelio, Berenice B. Mendonca, Costa, Elaine M.F., COSTA, Elaine M. F., Elaine M.F. Costa, Marco Aurelio Rivarola, DOMENICE, Sorahia   +10 more
core   +1 more source

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion

, 2018
Background: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype.
Maricilda Palandi De Mello, Laurione Cândido De Oliveira, Georgette Beatriz De Paula, Gil Guerra-Junior, André Moreno Morcillo, Guilherme Guaragna-Filho, Antônio Ramos Calixto, Andrea Trevas Maciel-Guerra   +7 more
core   +1 more source