Article
Monogenic Forms of DSD: An Update.
Hormone research in paediatrics - 1 Jan 2023
McElreavey Kenneth, Bashamboo Anu
Abstract excerpt
BACKGROUND: DSD encompass a wide range of pathologies that impact gonad formation, development, and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced by genetic modifiers. Although considered monogenic, establishing the genetic etiology in DSD has been difficult compared to other congenital...
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