The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

ABSTRACT: Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovari

SUBMITTER: Persani L 

PROVIDER: S-EPMC9716404 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature