Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years showed normal pubertal onset and progression. Molec...

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Detalles Bibliográficos
Autores principales: Ali, Naseer, Maharaj, Avinaash Vickram, Buonocore, Federica, Achermann, John C., Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995429/
https://www.ncbi.nlm.nih.gov/pubmed/35418949
http://dx.doi.org/10.3389/fendo.2022.860055

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995429/
https://www.ncbi.nlm.nih.gov/pubmed/35418949
http://dx.doi.org/10.3389/fendo.2022.860055

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