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Concomitant occurrence of Turner syndrome and growth hormone deficiency

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary glan...

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Autores principales: Yu, Jung, Shin, Ha Young, Lee, Chong Guk, Kim, Jae Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177693/
https://www.ncbi.nlm.nih.gov/pubmed/28018463
http://dx.doi.org/10.3345/kjp.2016.59.11.S121
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author Yu, Jung
Shin, Ha Young
Lee, Chong Guk
Kim, Jae Hyun
author_facet Yu, Jung
Shin, Ha Young
Lee, Chong Guk
Kim, Jae Hyun
author_sort Yu, Jung
collection PubMed
description Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.
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spelling pubmed-51776932016-12-23 Concomitant occurrence of Turner syndrome and growth hormone deficiency Yu, Jung Shin, Ha Young Lee, Chong Guk Kim, Jae Hyun Korean J Pediatr Case Report Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis. The Korean Pediatric Society 2016-11 2016-11-30 /pmc/articles/PMC5177693/ /pubmed/28018463 http://dx.doi.org/10.3345/kjp.2016.59.11.S121 Text en Copyright © 2016 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yu, Jung
Shin, Ha Young
Lee, Chong Guk
Kim, Jae Hyun
Concomitant occurrence of Turner syndrome and growth hormone deficiency
title Concomitant occurrence of Turner syndrome and growth hormone deficiency
title_full Concomitant occurrence of Turner syndrome and growth hormone deficiency
title_fullStr Concomitant occurrence of Turner syndrome and growth hormone deficiency
title_full_unstemmed Concomitant occurrence of Turner syndrome and growth hormone deficiency
title_short Concomitant occurrence of Turner syndrome and growth hormone deficiency
title_sort concomitant occurrence of turner syndrome and growth hormone deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177693/
https://www.ncbi.nlm.nih.gov/pubmed/28018463
http://dx.doi.org/10.3345/kjp.2016.59.11.S121
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