Results 71 to 80 of about 56,903 (162)

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Sarafoglou, Kyriakie, Ahmed, S. Faisal
core   +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

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

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

Schematic of the homozygous deletion in chr29, 28.6–28.8 Mb in two XY DSD horses.

, 2014
A. chr29 ideogram showing the location of AKR1C genes and a control gene CREM; B. Detailed map of the CNVR showing the location of genes (black horizontal bars) and CGH signal log2 values for 47 array probes in XY DSD and control horses; C.
Daniel G. Kenney (650372), Erica Fang (650369), Teri L. Lear (650373), Terje Raudsepp (108514), Rytis Juras (650370), Zhipeng Qu (110511), E. Gus Cothran (102148), Bhanu P. Chowdhary (108534), Sue McDonell (650371), David L. Adelson (110514), Sharmila Ghosh (650368), Pranab J. Das (108518)   +11 more
core   +1 more source

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

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

Designer DNA‐Based Machines

SmartBot, Volume 2, Issue 1, March 2026.
DNA machinery represents a burgeoning frontier at the intersection of robotics and nanotechnology, evolving from static nanostructure toward dynamic nanorobots. Here, the authors review the comprehensive research pipeline of designer DNA‐based nanomachines, covering the design, analysis, and fabrication. These programmable systems enable transformative
Yiquan An, Fan Wu, Yanyu Xiong, Cheng Zhang, Jian S. Dai, Lifeng Zhou   +5 more
wiley   +1 more source

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

, 2021
International audienceMissense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS).
Rezgoune, Djalila, Benelmadani, Yasmina, Rastari, Mandana, Satta, D, Totonchi, M, Simon, DS, Jauch, R, Ladjouze, Asmahane, Totonchi, Mehdi, Rastari, MA, Zidoune, H, Bignon-Topalovic, J, Sifi, Karima, Askari, Masomeh, Benelmadani, Y, Bignon-Topalovic, Joelle, Boukri, Asma, Satta, Dalila, Seresht-Ahmadi, M, Mcelreavey, Ken, Bashamboo, Anu, Boukri, A, Sifi, K, Tan, Daisylyn, Mazen, Inas, Askari, M, Simon, Dominique, Brauner, R, Brauner, Raja, Martinerie, LV, Mazen, I, Leger, J, Leger, Juliane, Ladjouze, A, Zidoune, Housna, Jauch, Ralf, Abadi, Noureddine, Abadi, N, McElreavey, K, Bashamboo,, A, Martinerie, Laetitia, TAN, DSY, Rezgoune, D, Seresht-Ahmadi, Mehrshad   +43 more
core   +1 more source