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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Pediatric Society
2016
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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. |
format | Online Article Text |
id | pubmed-5177693 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | The Korean Pediatric Society |
record_format | MEDLINE/PubMed |
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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