Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review

Congenital adrenal hyperplasia (CAH) is an uncommon condition and 11β-hydroxylase deficiency (11βOHD) accounts for 0.2-8% of cases. In this study, we report a three-year-old girl with a known diagnosis of classical CAH on maintenance treatment with hydrocortisone who presented with abnormal genitali...

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Detalles Bibliográficos
Autores principales: Alsanea, Mohammad N, Al-Agha, Abdulmoein, Shazly, Mohamed Abdelmaksoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788930/
https://www.ncbi.nlm.nih.gov/pubmed/35106260
http://dx.doi.org/10.7759/cureus.21537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788930/
https://www.ncbi.nlm.nih.gov/pubmed/35106260
http://dx.doi.org/10.7759/cureus.21537

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