Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49

17-ß Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an enzyme transforming Delta 4 androstenedione into testosterone. It is involved in the early development of the male genital tract. In this case report, we describe a 46,XY Difference of Sexual Development (DSD) individual with a female phenoty...

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Veröffentlicht in:	Annales d'endocrinologie 2023-04, Vol.84 (2), p.260-264
Hauptverfasser:	Garcia, Aubin, Legendre, Marie, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Format:	Artikel
Sprache:	eng
Schlagworte:	17-Hydroxysteroid Dehydrogenases - genetics 17-ß Hydroxysteroid Dehydrogenase type 3 17-ß hydroxystéroide déshydrogénase de type 3 46,XY DSD Aménorrhée primaire Difference of sexual development Différence du développement sexuel Disorder of Sex Development, 46,XY - genetics Female Genetics Human genetics Humans Intellectual Disability - genetics Life Sciences Male Mutation Primary amenorrhea Testosterone Variation of sexual development Variations du développement génital
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