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Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates
Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both i...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198007/ https://www.ncbi.nlm.nih.gov/pubmed/27087023 http://dx.doi.org/10.4274/jcrpe.2539 |
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author | Korkut, Sabriye Baştuğ, Osman Raygada, Margarita Hatipoğlu, Nihal Kurtoğlu, Selim Kendirci, Mustafa Lyssikatos, Charalampos Stratakis, Constantine A. |
author_facet | Korkut, Sabriye Baştuğ, Osman Raygada, Margarita Hatipoğlu, Nihal Kurtoğlu, Selim Kendirci, Mustafa Lyssikatos, Charalampos Stratakis, Constantine A. |
author_sort | Korkut, Sabriye |
collection | PubMed |
description | Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both infants had normal serum 17-hidroxyprogesterone levels, and adrenal glands could not be observed with ultrasonography. Creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. Both patients required steroid and salt supplementation. They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1). We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation. |
format | Online Article Text |
id | pubmed-5198007 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-51980072017-01-05 Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates Korkut, Sabriye Baştuğ, Osman Raygada, Margarita Hatipoğlu, Nihal Kurtoğlu, Selim Kendirci, Mustafa Lyssikatos, Charalampos Stratakis, Constantine A. J Clin Res Pediatr Endocrinol Case Report Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both infants had normal serum 17-hidroxyprogesterone levels, and adrenal glands could not be observed with ultrasonography. Creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. Both patients required steroid and salt supplementation. They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1). We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation. Galenos Publishing 2016-12 2016-12-01 /pmc/articles/PMC5198007/ /pubmed/27087023 http://dx.doi.org/10.4274/jcrpe.2539 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Korkut, Sabriye Baştuğ, Osman Raygada, Margarita Hatipoğlu, Nihal Kurtoğlu, Selim Kendirci, Mustafa Lyssikatos, Charalampos Stratakis, Constantine A. Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title | Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title_full | Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title_fullStr | Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title_full_unstemmed | Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title_short | Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates |
title_sort | complex glycerol kinase deficiency and adrenocortical insufficiency in two neonates |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198007/ https://www.ncbi.nlm.nih.gov/pubmed/27087023 http://dx.doi.org/10.4274/jcrpe.2539 |
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