17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development

Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with...

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Detalles Bibliográficos
Autores principales: Deeb, Asma, Al Suwaidi, Hana, Attia, Salima, Al Ameri, Ahlam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633651/
https://www.ncbi.nlm.nih.gov/pubmed/26543560
http://dx.doi.org/10.1530/EDM-15-0069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633651/
https://www.ncbi.nlm.nih.gov/pubmed/26543560
http://dx.doi.org/10.1530/EDM-15-0069

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