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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Detalles Bibliográficos
Autor principal: Almaghraby, Abdullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551139/
http://dx.doi.org/10.1210/js.2019-MON-368
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author Almaghraby, Abdullah
author_facet Almaghraby, Abdullah
author_sort Almaghraby, Abdullah
collection PubMed
description 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 mutations reported. Here we report a new homozygous missense mutation in the MC2R gene [c.536C>T, p.(Thr179Met)] in a young female who presented with mucosal hyperpigmentation.
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spelling pubmed-65511392019-06-13 MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation Almaghraby, Abdullah J Endocr Soc Adrenal 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 mutations reported. Here we report a new homozygous missense mutation in the MC2R gene [c.536C>T, p.(Thr179Met)] in a young female who presented with mucosal hyperpigmentation. Endocrine Society 2019-04-30 /pmc/articles/PMC6551139/ http://dx.doi.org/10.1210/js.2019-MON-368 Text en Copyright © 2019 Endocrine Society https://creativecommons.org/licenses/by-nc-nd/4.0/ This article has been published under the terms of the Creative Commons Attribution Non-Commercial, No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Adrenal
Almaghraby, Abdullah
MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title_full MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title_fullStr MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title_full_unstemmed MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title_short MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation
title_sort mon-368 familial glucocorticoid deficiency type i with new mc2r mutation: presentation of a pediatric patient with oral mucosal hyperpigmentation
topic Adrenal
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551139/
http://dx.doi.org/10.1210/js.2019-MON-368
work_keys_str_mv AT almaghrabyabdullah mon368familialglucocorticoiddeficiencytypeiwithnewmc2rmutationpresentationofapediatricpatientwithoralmucosalhyperpigmentation

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