A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency

Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low...

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Detalles Bibliográficos
Autores principales: Saltarelli, Maria Alessandra, Ferrante, Rossella, Marcello, Francesca Di, David, Daniela, Valentinuzzi, Silvia, Pilenzi, Lucrezia, Federici, Luca, Rossi, Claudia, Stuppia, Liborio, Tumini, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180258/
https://www.ncbi.nlm.nih.gov/pubmed/35682463
http://dx.doi.org/10.3390/ijerph19116880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180258/
https://www.ncbi.nlm.nih.gov/pubmed/35682463
http://dx.doi.org/10.3390/ijerph19116880

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