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Keywords: DSD
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Journal Articles
Sex Dev (2022) 16 (4): 252–260.
Published Online: 14 February 2023
... 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...
Journal Articles
Sex Dev (2022) 16 (4): 227–235.
Published Online: 14 February 2023
...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...
Journal Articles
Sex Dev (2022) 16 (2-3): 207–224.
Published Online: 30 May 2022
...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...
Journal Articles
Sex Dev (2021) 15 (5-6): 317–334.
Published Online: 28 October 2021
... 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...
Journal Articles
Sex Dev (2022) 16 (2-3): 126–137.
Published Online: 25 October 2021
...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...
Journal Articles
Sex Dev (2022) 16 (2-3): 112–125.
Published Online: 01 September 2021
... 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...
Journal Articles
Sex Dev (2021) 15 (4): 236–243.
Published Online: 07 July 2021
... 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...
Journal Articles
Journal Articles
Sex Dev (2020) 13 (4): 165–170.
Published Online: 20 December 2019
... fistula; Deh, dehiscence; Div, diverticulum; MS, meatal stenosis; US, urethral stricture. Ethical approval was not required for this literature study. Complication DSD Hypospadias Outcome Sex development Hypospadias is a common congenital anomaly affecting approximately 1 in 300...
Journal Articles
Sex Dev (2018) 12 (5): 232–238.
Published Online: 03 August 2018
.... The frequency of DSD in the general horse population is most likely underestimated, because a substantial number of affected individuals appear phenotypically normal and are never presented to a veterinarian for clinical examination. Whereas the majority of mares undergoing chromosome analysis have a history...
Journal Articles
Sex Dev (2010) 4 (4-5): 304–309.
Published Online: 21 July 2010
...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...