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GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report

BACKGROUND: Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic causes have been identified. GNAS mutatio...

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Autores principales: Tong, Yajie, Yue, Dongmei, Xin, Ying, Zhang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351131/
https://www.ncbi.nlm.nih.gov/pubmed/35927642
http://dx.doi.org/10.1186/s12887-022-03517-6
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author Tong, Yajie
Yue, Dongmei
Xin, Ying
Zhang, Dan
author_facet Tong, Yajie
Yue, Dongmei
Xin, Ying
Zhang, Dan
author_sort Tong, Yajie
collection PubMed
description BACKGROUND: Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic causes have been identified. GNAS mutation is easily overlooked as a rare cause of primary adrenal insufficiency. Here we firstly report a neonatal case of primary adrenal insufficiency caused by GNAS mutation. CASE PRESENTATION: A boy was diagnosed with congenital hypothyroidism 10 days post-partum and treated immediately. He also had persistent hyperkalaemia and hyponatraemia with elevated adrenocorticotropic hormone. At 70 days after birth, he was transferred to our hospital on suspicion of congenital adrenal hyperplasia. Physical examination found no other abnormalities except for growth retardation. Laboratory examination revealed increased aldosterone and normal cortisol, 17-hydroxyprogesterone, and androstenedione levels. Abnormally elevated parathyroid hormone was accompanied by normal blood calcium. Genetic assessment found a de novo, heterozygous c.432 + 1G > A variant in GNAS. CONCLUSIONS: We report this case to highlight that GNAS mutation is an unusual cause of primary adrenal insufficiency. The combination of primary hypothyroidism and /or pseudohypoparathyroidism will provide diagnostic clues to this condition.
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spelling pubmed-93511312022-08-05 GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report Tong, Yajie Yue, Dongmei Xin, Ying Zhang, Dan BMC Pediatr Case Report BACKGROUND: Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic causes have been identified. GNAS mutation is easily overlooked as a rare cause of primary adrenal insufficiency. Here we firstly report a neonatal case of primary adrenal insufficiency caused by GNAS mutation. CASE PRESENTATION: A boy was diagnosed with congenital hypothyroidism 10 days post-partum and treated immediately. He also had persistent hyperkalaemia and hyponatraemia with elevated adrenocorticotropic hormone. At 70 days after birth, he was transferred to our hospital on suspicion of congenital adrenal hyperplasia. Physical examination found no other abnormalities except for growth retardation. Laboratory examination revealed increased aldosterone and normal cortisol, 17-hydroxyprogesterone, and androstenedione levels. Abnormally elevated parathyroid hormone was accompanied by normal blood calcium. Genetic assessment found a de novo, heterozygous c.432 + 1G > A variant in GNAS. CONCLUSIONS: We report this case to highlight that GNAS mutation is an unusual cause of primary adrenal insufficiency. The combination of primary hypothyroidism and /or pseudohypoparathyroidism will provide diagnostic clues to this condition. BioMed Central 2022-08-04 /pmc/articles/PMC9351131/ /pubmed/35927642 http://dx.doi.org/10.1186/s12887-022-03517-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Tong, Yajie
Yue, Dongmei
Xin, Ying
Zhang, Dan
GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title_full GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title_fullStr GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title_full_unstemmed GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title_short GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
title_sort gnas mutation is an unusual cause of primary adrenal insufficiency: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351131/
https://www.ncbi.nlm.nih.gov/pubmed/35927642
http://dx.doi.org/10.1186/s12887-022-03517-6
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AT zhangdan gnasmutationisanunusualcauseofprimaryadrenalinsufficiencyacasereport