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Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hy...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752790/ https://www.ncbi.nlm.nih.gov/pubmed/19795005 http://dx.doi.org/10.3346/jkms.2009.24.5.979 |
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author | Kim, Chan Jong Woo, Young Jong Kim, Gu Hwan Yoo, Han Wook |
author_facet | Kim, Chan Jong Woo, Young Jong Kim, Gu Hwan Yoo, Han Wook |
author_sort | Kim, Chan Jong |
collection | PubMed |
description | Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 µg/dL), with very high plasma ACTH level (18,000 pg/mL), and serum cortisol level did not increase after ACTH stimulation test. Serum sodium, potassium, plasma renin activity, aldosterone and 17-hydroxyprogesterone were normal. Sequence analysis of the ACTH receptor (MC2R) gene showed a homozygous mutation of D103N. Diagnosis of FGD was made and treatment started with oral hydrocortisone. |
format | Text |
id | pubmed-2752790 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-27527902009-10-01 Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report Kim, Chan Jong Woo, Young Jong Kim, Gu Hwan Yoo, Han Wook J Korean Med Sci Case Report Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 µg/dL), with very high plasma ACTH level (18,000 pg/mL), and serum cortisol level did not increase after ACTH stimulation test. Serum sodium, potassium, plasma renin activity, aldosterone and 17-hydroxyprogesterone were normal. Sequence analysis of the ACTH receptor (MC2R) gene showed a homozygous mutation of D103N. Diagnosis of FGD was made and treatment started with oral hydrocortisone. The Korean Academy of Medical Sciences 2009-10 2009-09-23 /pmc/articles/PMC2752790/ /pubmed/19795005 http://dx.doi.org/10.3346/jkms.2009.24.5.979 Text en Copyright © 2009 The Korean Academy of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Kim, Chan Jong Woo, Young Jong Kim, Gu Hwan Yoo, Han Wook Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title | Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title_full | Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title_fullStr | Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title_full_unstemmed | Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title_short | Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report |
title_sort | familial glucocorticoid deficiency with a point mutation in the acth receptor: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752790/ https://www.ncbi.nlm.nih.gov/pubmed/19795005 http://dx.doi.org/10.3346/jkms.2009.24.5.979 |
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