Results 61 to 70 of about 1,174,652 (161)

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source

List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.

, 2013
List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.
Sung-Hae L. Kang (360379), Mounia Tannour-Louet (360374), Shuo Han (360375), Svetlana Yatsenko (360378), Lindsay Meyers (200200), Chad A. Shaw (94130), Jean-Francois Louet (360377), Sean T. Corbett (360376), Dolores J. Lamb (360380), Sau Wai Cheung (163977)   +9 more
core   +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

Stage IIIC Bilateral Dysgerminoma in a 16‐Year‐Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Mahshid Vasef, Noushin Afshar Moghaddam, Masoomeh Raoufi, Maryam Iranipour, Samar Moghadami   +4 more
wiley   +1 more source

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

, 2021
Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents ...
Luigia De Falco, Rossana D’Angelo, Antonio Fico, Eloisa Evangelista, Roberto Sirica, Carmelo Piscopo, Ciro Scarpato, Raffaella Ruggiero, Giovanni Savarese, Teresa Suero, Antonella Di Carlo, Giulia Furino   +11 more
core   +1 more source

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome [PDF]

, 2019
PURPOSE: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients
Eozenou, Caroline, Sallai, A, Merel, Tiphanie, Merel, T, Jauch, R, Buonocore, F, Warr, Nick, Eozenou, C, Bignon-Topalovic, Joelle, Carel, J-C, Greenfield, Andy, van Maldergem, Lionel, Houzelstein, D, Bashamboo, Anu, Mignot, B, Mazen, Inas, Houzelstein, Denis, Siffroi, J-P, Brauner, Raja, Tan, DS, Leger, Juliane, Sallai, Agnes, Kay, Raissa G G, Shcherbak, Y, Jorgensen, A, Bertalan, Rita, Kay, Raissa G. G., Achermann, John,, Achermann, John C, Van Maldergem, L, Conway, GS, Bertalan, R, Achermann, John, C, Le Ru, Romain, Globa, Evgenia, Nef, S, Bashamboo, A, Martinerie, L, Warr, N, Bignon-Topalovic, J, Achermann, JC, Tan, Daisylyn Senna, Shcherbak, Yuliya, Jørgensen, Anne, Kay, Raissa, G G, Le Ru, R, Peycelon, M, Greenfield, A, Mcelreavey, Ken, Peycelon, Matthieu, Nef, Serge, Jorgensen, Anne, Buonocore, Federica, Conway, Gerard S, Brauner, R, Maldergem, LV, Mazen, I, Leger, J, Achermann, John C., Kay, RGG, Jauch, Ralf, Conway, Gerard, McElreavey, K, Martinerie, Laetitia, Globa, E, Carel, Jean-Claude, Kay, Raissa,, Conway, Gerard S., Siffroi, Jean-Pierre, Mignot, Brigitte   +69 more
core   +2 more sources

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Reproductive Biology and Endocrinology, 2010
Background Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics.
Servant Nadège, Raingeard Isabelle, Lespinasse James, Frances Anne-Marie, Polak Michel, Thibaud Elisabeth, Zenaty Delphine, Leprieur Elodie, Philibert Pascal, Audran Françoise, Paris Françoise, Sultan Charles   +11 more
doaj   +1 more source

CYP17A1 Locus: Regulatory Mechanisms and Clinical Associations With Cardiovascular Disease and Metabolic Syndrome

IUBMB Life, Volume 78, Issue 4, April 2026.
ABSTRACT The CYP17A1 gene encodes the P450 17α‐hydroxylase/17,20‐lyase protein, a key enzyme in steroidogenesis. In the past, it was associated with disorders such as congenital adrenal hyperplasia, disorders of sex development, and castration resistant prostate cancer.
Yasmine Chakkor, Redouane Aherrahrou
wiley   +1 more source

Tailoring Differentiated Multiscale Microstructure to Enhance the Mechanical Properties of Additively Manufactured AlCoFeNi2 at Room and High Temperatures via Annealing

Rare Metals, Volume 45, Issue 4, April 2026.
ABSTRACT Additively manufactured AlCoFeNi series eutectic high‐entropy alloys (EHEAs) exhibit nonequilibrium dual‐phase microstructure in the as‐printed state, allowing them to be easily tailored through annealing to explore their strength–toughness potential.
Huidong Wu, Xinyu Zhang, Chunman Wang, Yi Ru, Lei Cao, Kaisheng Ming, Tao Dong, Ben Chen, Ming Gu, Xiang Wang, Wenqi Guo, Shusuo Li, Yanling Pei, Shengkai Gong   +13 more
wiley   +1 more source