Article
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017
Andonova Silvia, Robeva Ralitsa, Vazharova Radoslava, Ledig Susanne, Grozdanova Liliana, Stefanova Elisaveta, Bradinova Irena, Todorov Tihomir, Hadjidekov George, Sirakov Milko, Wieacker Peter, Kumanov Philip, Savov Alexey
Abstract excerpt
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might...
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