Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype

We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The...

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Autores principales: Katsushima, Yuriko, Katsushima, Fumio, Katsushima, Noriko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2008
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004920/
https://www.ncbi.nlm.nih.gov/pubmed/24790359
http://dx.doi.org/10.1297/cpe.17.27
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author Katsushima, Yuriko
Katsushima, Fumio
Katsushima, Noriko
author_facet Katsushima, Yuriko
Katsushima, Fumio
Katsushima, Noriko
author_sort Katsushima, Yuriko
collection PubMed
description We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 cm. Although the underlying factors for the tall stature are unknown, this report indicates an association of the 48,XXYY karyotype with marked tall stature.
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spelling pubmed-40049202014-04-30 Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype Katsushima, Yuriko Katsushima, Fumio Katsushima, Noriko Clin Pediatr Endocrinol Original We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 cm. Although the underlying factors for the tall stature are unknown, this report indicates an association of the 48,XXYY karyotype with marked tall stature. The Japanese Society for Pediatric Endocrinology 2008-05-08 2008 /pmc/articles/PMC4004920/ /pubmed/24790359 http://dx.doi.org/10.1297/cpe.17.27 Text en 2008©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Original
Katsushima, Yuriko
Katsushima, Fumio
Katsushima, Noriko
Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title_full Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title_fullStr Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title_full_unstemmed Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title_short Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
title_sort extreme tall stature in a japanese boy with a 48,xxyy karyotype
topic Original
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004920/
https://www.ncbi.nlm.nih.gov/pubmed/24790359
http://dx.doi.org/10.1297/cpe.17.27
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