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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...

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Autores principales: Korkut, Sabriye, Baştuğ, Osman, Raygada, Margarita, Hatipoğlu, Nihal, Kurtoğlu, Selim, Kendirci, Mustafa, Lyssikatos, Charalampos, Stratakis, Constantine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
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.
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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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