... and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD). Methods: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES). Results: Four variants were identified within the NR5A1 non...

...Meilan M. Rutter; Miriam Muscarella; Janet Green; Gnendy Indig; Alexandra von Klan; Kimberly Kennedy; Erica M. Weidler; Margaret Barrett; David E. Sandberg; in collaboration with the DSD-Translational Research Network Introduction: People with differences of sex development (DSD) and their families...

...S. Faisal Ahmed; Malika Alimusina; Rafael L. Batista; Sorahia Domenice; Nathalia Lisboa Gomes; Ruth McGowan; Supitcha Patjamontri; Berenice B. Mendonca Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD...

... development (DSD). To date, dozens of genes were shown to play roles in mammalian sex determination, and mutations in these genes can cause DSD in humans or gonadal sex reversal/dysfunction in mice. However, exome sequencing currently provides genetic diagnosis for only less than half of DSD patients...

...Mami Miyado; Maki Fukami; Tsutomu Ogata MAMLD1 (alias CXorf6 ) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). MAMLD1 / Mamld1 is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. DM domain DMRT1 DSD Testis National Institutes of Health (NIH) 10.13039/100000002 The DMRT gene family was initially discovered in the late 1990s...

... that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice of TRT in boys included in the I-DSD Registry. All participating centres in the I-DSD Registry that had boys between 10 and 18 years of age and with a condition that could...

...Anil Kumar; Rajni Sharma; Mohammed Faruq; Varun Suroliya; Manoj Kumar; Shilpa Sharma; Ralf Werner; Olaf Hiort; Vandana Jain The aim of this study was to assess the prevalence of pathogenic variants in the SRD5A2 gene in children with 46,XY disorders of sex development (DSD) with normal to high...

... in 300 male births [Ahmed et al., 2004]. Its underlying aetiology may be multifactorial [van der Zanden et al., 2012]. Several congenital conditions that are associated with a disorder of sex development (DSD), including a disorder of gonadal development, disorder of androgen synthesis, or a disorder...

... are rarely reported and may result in infertile men with some manifestations of Turner syndrome [Fitch et al., 1985]. DSD Horse Mosaic Sex chromosome Y chromosome deletion In humans, disorders of sex development (DSD) are defined as congenital conditions in which the development...

...F. D’Alberton This paper focuses on the importance of full disclosure in disorders of sex development (DSD), as a universal human right and closely related to informed consent. Full disclosure is not only a way of communicating a diagnosis, it is a methodological constant that permeates all...