Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ryan Ciarlo"'
Autor:
Henry A. Feldman, Amalia Feld, Elfa Jonsdottir-Lewis, Ryan Ciarlo, Yee-Ming Chan, Erica R. Denhoff
Publikováno v:
J Clin Endocrinol Metab
Context The decision whether to treat a child with delayed puberty with sex steroids is primarily based on patient, family, and provider preference. Knowing when children with constitutional delay eventually enter puberty would inform this decision.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a081d9099488eb4d092e0b8db7053bb3
https://doi.org/10.1210/clinem/dgab270
https://doi.org/10.1210/clinem/dgab270
Autor:
Benjamin Weaver, Joel N. Hirschhorn, Aser Abrha, Yee-Ming Chan, Ryan Ciarlo, Jonathan M. Swartz, Michael H. Guo, David A. Diamond
Publikováno v:
Hormone Research in Paediatrics. 87:191-195
Background: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ba8486bd55ae527f3207f1656698963
https://doi.org/10.1159/000452888
https://doi.org/10.1159/000452888
Autor:
Yee-Ming Chan, Joel N. Hirschhorn, Aser Abrha, Ryan Ciarlo, E. Denhoff, David A. Diamond, Jonathan M. Swartz
Background Bifid scrotum and hypospadias can be signs of undervirilization, yet boys presenting with these findings often do not undergo genetic evaluation. In some cases, identifying an underlying genetic diagnosis can help to optimize clinical care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467994a07889792ef7e28e44ce597ef3
https://europepmc.org/articles/PMC5483185/
https://europepmc.org/articles/PMC5483185/
Autor:
Michael H. Guo, Ryan Ciarlo, David A. Diamond, Jonathan M. Swartz, Yee-Ming Chan, Joel N. Hirschhorn, Aser Abrha
Background: Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10-20% of the cases and are a relatively common cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1650290086493a55215b960affef970
https://europepmc.org/articles/PMC5325809/
https://europepmc.org/articles/PMC5325809/