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Article

Normal male external genitalia do not rule out CYP11A1 deficiency

1 Jul 2019

Abstract excerpt

Defects in the initial steps of steroidogenesis usually present with female external genitalia in both 46,XX and 46,XY. Hence, they are not often considered in the differential diagnosis of primary adrenal insufficiency children with normal male external genitalia. Here, we report a boy with normal male external genitalia who presented with hyperpigmentation since the age of 2 years but diagnosis was delayed till...

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PMID: 31289154
DOI: 10.1136/bcr-2018-228235

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