Language:

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

Journal of clinical research in pediatric endocrinology, 2016-12, Vol.8 (4), p.468-471 [Peer Reviewed Journal]

COPYRIGHT 2016 Galenos Yayinevi Tic. Ltd. ;Copyright Galenos Yayinevi Dec 2016 ;Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. 2016 ;ISSN: 1308-5727 ;EISSN: 1308-5735 ;DOI: 10.4274/jcrpe.2539 ;PMID: 27087023

Full text available

Citations Cited by

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates
Author: Korkut, Sabriye ; Baştuğ, Osman ; Raygada, Margarita ; Hatipoğlu, Nihal ; Kurtoğlu, Selim ; Kendirci, Mustafa ; Lyssikatos, Charalampos ; Stratakis, Constantine A
Subjects: Adrenal Insufficiency - genetics ; Adrenal Insufficiency - metabolism ; Carbohydrate Metabolism, Inborn Errors - genetics ; Carbohydrate Metabolism, Inborn Errors - metabolism ; Case Report ; Case studies ; Chromosome Deletion ; Chromosomes, Human, X - genetics ; Diseases ; Dosage and administration ; Fludrocortisone ; Genetic Diseases, X-Linked - genetics ; Genetic Diseases, X-Linked - metabolism ; Glycerol Kinase - deficiency ; Glycerol Kinase - genetics ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Infants (Newborn) ; Male
Is Part Of: Journal of clinical research in pediatric endocrinology, 2016-12, Vol.8 (4), p.468-471
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.
Publisher: Turkey: Galenos Yayinevi Tic. Ltd
Language: English;Turkish
Identifier: ISSN: 1308-5727
EISSN: 1308-5735
DOI: 10.4274/jcrpe.2539
PMID: 27087023
Source: GFMER Free Medical Journals
MEDLINE
PubMed Central
ProQuest Central
DOAJ Directory of Open Access Journals

Back to results list

Previous Result 3 Next Go to Next page


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

COPYRIGHT 2016 Galenos Yayinevi Tic. Ltd. ;Copyright Galenos Yayinevi Dec 2016 ;Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. 2016 ;ISSN: 1308-5727 ;EISSN: 1308-5735 ;DOI: 10.4274/jcrpe.2539 ;PMID: 27087023

Searching Remote Databases, Please Wait