Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abno...

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Autores principales:	Jakub Kasprzyk, Marcin Włodarczyk, Aleksandra Sobolewska-Włodarczyk, Katarzyna Wieczorek-Szukała, Renata Stawerska, Maciej Hilczer, Andrzej Lewiński
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	turner syndrome growth hormone therapy karyotype abnormalities Medicine R
Acceso en línea:	https://doaj.org/article/8dabb2578a8843f2a50ac8295503449a
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spelling	oai:doaj.org-article:8dabb2578a8843f2a50ac8295503449a2021-11-11T17:41:55ZKaryotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome10.3390/jcm102150762077-0383https://doaj.org/article/8dabb2578a8843f2a50ac8295503449a2021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/5076https://doaj.org/toc/2077-0383Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X monosomy (<i>n</i> = 35), isochromosome (<i>n</i> = 11), marker chromosome (<i>n</i> = 5), or X-mosaicism (<i>n</i> = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the therapy. In the second year, HV deteriorated significantly in X-monosomy and isochromosome in comparison to the remaining two groups (<i>p</i> = 0.0007). After 3 years of therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with marker chromosome and X-mosaicism (<i>p</i> = 0.0072). X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. The results of the study indicate that the effects of rhGH therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.Jakub KasprzykMarcin WłodarczykAleksandra Sobolewska-WłodarczykKatarzyna Wieczorek-SzukałaRenata StawerskaMaciej HilczerAndrzej LewińskiMDPI AGarticleturner syndromegrowth hormone therapykaryotype abnormalitiesMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5076, p 5076 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	turner syndrome growth hormone therapy karyotype abnormalities Medicine R
spellingShingle	turner syndrome growth hormone therapy karyotype abnormalities Medicine R Jakub Kasprzyk Marcin Włodarczyk Aleksandra Sobolewska-Włodarczyk Katarzyna Wieczorek-Szukała Renata Stawerska Maciej Hilczer Andrzej Lewiński Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
description	Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X monosomy (<i>n</i> = 35), isochromosome (<i>n</i> = 11), marker chromosome (<i>n</i> = 5), or X-mosaicism (<i>n</i> = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the therapy. In the second year, HV deteriorated significantly in X-monosomy and isochromosome in comparison to the remaining two groups (<i>p</i> = 0.0007). After 3 years of therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with marker chromosome and X-mosaicism (<i>p</i> = 0.0072). X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. The results of the study indicate that the effects of rhGH therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.
format	article
author	Jakub Kasprzyk Marcin Włodarczyk Aleksandra Sobolewska-Włodarczyk Katarzyna Wieczorek-Szukała Renata Stawerska Maciej Hilczer Andrzej Lewiński
author_facet	Jakub Kasprzyk Marcin Włodarczyk Aleksandra Sobolewska-Włodarczyk Katarzyna Wieczorek-Szukała Renata Stawerska Maciej Hilczer Andrzej Lewiński
author_sort	Jakub Kasprzyk
title	Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
title_short	Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
title_full	Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
title_fullStr	Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
title_full_unstemmed	Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
title_sort	karyotype abnormalities in the x chromosome predict response to the growth hormone therapy in turner syndrome
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/8dabb2578a8843f2a50ac8295503449a
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Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

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