A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac a...

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Autores principales: Korkmaz, Hüseyin Anıl, Özkan, Behzat, Hazan, Filiz, Büyükinan, Muammer, Çelik, Tanju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628396/
https://www.ncbi.nlm.nih.gov/pubmed/23419422
http://dx.doi.org/10.4274/Jcrpe.880
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author Korkmaz, Hüseyin Anıl
Özkan, Behzat
Hazan, Filiz
Büyükinan, Muammer
Çelik, Tanju
author_facet Korkmaz, Hüseyin Anıl
Özkan, Behzat
Hazan, Filiz
Büyükinan, Muammer
Çelik, Tanju
author_sort Korkmaz, Hüseyin Anıl
collection PubMed
description Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. An increased risk for hypothyroidism, sensorineural hearing loss, hypertension, and other problems has also been reported. We present the case of a patient with TS accompanied by transient hypogammaglobulinaemia of infancy (THI) and central diabetes insipidus, which we believe is the first reported TS patient with these concomitant disorders. Conflict of interest:None declared.
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spelling pubmed-36283962013-04-19 A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus Korkmaz, Hüseyin Anıl Özkan, Behzat Hazan, Filiz Büyükinan, Muammer Çelik, Tanju J Clin Res Pediatr Endocrinol Case Report Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. An increased risk for hypothyroidism, sensorineural hearing loss, hypertension, and other problems has also been reported. We present the case of a patient with TS accompanied by transient hypogammaglobulinaemia of infancy (THI) and central diabetes insipidus, which we believe is the first reported TS patient with these concomitant disorders. Conflict of interest:None declared. Galenos Publishing 2013-03 2013-03-21 /pmc/articles/PMC3628396/ /pubmed/23419422 http://dx.doi.org/10.4274/Jcrpe.880 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
Korkmaz, Hüseyin Anıl
Özkan, Behzat
Hazan, Filiz
Büyükinan, Muammer
Çelik, Tanju
A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title_full A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title_fullStr A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title_full_unstemmed A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title_short A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus
title_sort case of turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628396/
https://www.ncbi.nlm.nih.gov/pubmed/23419422
http://dx.doi.org/10.4274/Jcrpe.880
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