Results 111 to 120 of about 168,585,466 (202)

OR05-2 Development and Validation of a Short Version of the Quality of Life DSD Questionnaire (QoL-DSD) for Parents of Young Children with Disorders/Differences of Sex Development [PDF]

, 2022
S Faisal Ahmed, Martyn E. Flett, Melissa Gardner, Boma Lee, Stuart O’Toole, David E. Sandberg, Mairi J. Steven, Yiqiao Xin, Salma Ali   +8 more
openalex   +1 more source

Spectrum of gonadal morphology in disorders of sexual development: A case series

Indian Journal of Pathology and Microbiology
Introduction: Disorders of sexual development (DSD) comprise a group of congenital conditions, occurring in approximately 1 in 4,500 to 5,500 newborns. Materials and Methods: Over a 3-year period, seven cases presented with ambiguous genitalia, primary ...
PM Abida, Bandyopadhyay Arghya, Mondal Ambalika, Moumita Maiti, Barui Gopinath   +4 more
doaj   +1 more source

Rare diseases research and practice

, 2014
Rare diseases (RDs) affect less than 5 per 10,000 individuals in Europe, while in the USA a rare condition is considered to have a prevalence of fewer than 200,000 affected Americans.
Polizzi, Agata, BALSAMO, ANTONIO, BAL, MILVA ORQUIDEA, Agata Polizzi, Taruscio, Domenica, Milva Orquidea Bal, Antonio Balsamo, Domenica Taruscio   +7 more
core   +1 more source

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

, 2018
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. gene variants, mainly related to congenital heart defects (CHD), have also been
Castaño, Luis, Audi, Laura, Riedl, Stefan, Rodriguez, Amaia, de Mingo, Carmen, Camats, Nuria, Flück Pandey, Christa Emma, Martinez de LaPiscina, Idoia, Fernández-Cancio, Mónica, Sinclair, Andrew, Pandey, Amit Vikram   +10 more
core   +1 more source

Diagnosis and Management of 46 XX Disorders of Sex Development (DSD) Aromatase Deficiency in Resource-Restricted Setting [PDF]

, 2022
Jefri Adi Kam Sitepu, Marjono Dwi Wibowo
openalex   +1 more source

The epidemiology of disorders of sex development [PDF]

During recent years the epidemiology of disorders of sex development (DSD) has been more clearly delineated. Here, we provide a detailed and up-to-date synopsis of the epidemiology of DSD, incorporating the latest body of knowledge in the field for sex ...
Lind-Holst, Marie, Stochholm, Kirstine, Chang, Simon, Gravholt, Claus Højbjerg, Berglund, Agnethe   +4 more
core   +1 more source

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations [PDF]

, 2021
Kiarad Fendereski, John C. Carey, Kathleen H. Timme, Katherine Hayes, Jessica Robnett, Anthony J. Schaeffer   +5 more
openalex   +1 more source

Identification of Genetic Etiology in Disorders of Sex Development [PDF]

, 2017
Disorders of Sex Development (DSD) are defined as “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.” These conditions have an approximate frequency of 0.5-1% of live births and encompass a wide variety of ...
Barseghyan, Hayk
core   +1 more source

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

, 2021
Luigia De Falco, Carmelo Piscopo, Rossana D’Angelo, Eloisa Evangelista, Teresa Suero, Roberto Sirica, Raffaella Ruggiero, Giovanni Savarese, Antonella Di Carlo, Giulia Furino, Ciro Scarpato, Antonio Fico   +11 more
openalex   +1 more source

Novel co-occurrence of hypophosphatemic rickets with 46XY DSD (disorder of sex development) due to a CYP17A1 variant

, 2023
Shruti Arvind Mondkar, Sushil Yewale, Vaman V Khadilkar, Anuradha Vaman Khadilkar   +3 more
openalex   +2 more sources