Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency

A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause...

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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Main Authors: Agrawal, Saurav Shishir, Chakraborty, Partha Pratim, Sinha, Anirban, Maiti, Animesh
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2019
Assuntos:
Learning from Errors
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001710/
https://ncbi.nlm.nih.gov/pubmed/31801784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232575
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