Article
[Clinical Findings in Two patients with DSD 46XY caused by new variant of the Desert Hedgehog Gene and review of the literature of the role of DHH signaling pathway in sex development].
Problemy endokrinologii - 7 Jun 2021
Kalinchenko N Y, Batyrova Z K, Kostrova I B, Kolodkina A A, Uvarova E N, Kumykova Z Kh, Asaturova A V, Khabas G N, Tiulpakov A N
Abstract excerpt
Mutations in the gene DHH are an extremely rare cause of disorders of sex development 46,XY (DSD,46XY). The article describes the clinical cases of two unrelated patients with gonadal dysgenesis 46,XY with female phenotype. By using a next generation sequencing method, in both cases the same biallelic variant substitution c. 419T>G in the DHH gene was revealed. Taking into account the data on the role of DHH...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.