MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation

Familial Glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to produce glucocorticoids in response to ACTH, but with preservation of mineralocorticoid activity. It is caused by mutations in the melanocortin 2 receptor (MC2R), and thus far over 40...

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Vydáno v:J Endocr Soc
Hlavní autor: Almaghraby, Abdullah
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Adrenal
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551139/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-368
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