Cargando…

Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy

Klinefelter syndrome (KS) is a sex chromosome disorder characterized by the presence of one or more extra X chromosomes. KS is well known by the common karyotype 47, XXY and presents as male infertility with hypogonadism in adults. Pediatric patients with KS commonly show neurodevelopmental disorder...

Descripción completa

Detalles Bibliográficos
Autores principales: Fukuhara, Shota, Mori, Jun, Nakajima, Hisakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267554/
https://www.ncbi.nlm.nih.gov/pubmed/34285454
http://dx.doi.org/10.1297/cpe.30.127
_version_ 1783720165942231040
author Fukuhara, Shota
Mori, Jun
Nakajima, Hisakazu
author_facet Fukuhara, Shota
Mori, Jun
Nakajima, Hisakazu
author_sort Fukuhara, Shota
collection PubMed
description Klinefelter syndrome (KS) is a sex chromosome disorder characterized by the presence of one or more extra X chromosomes. KS is well known by the common karyotype 47, XXY and presents as male infertility with hypogonadism in adults. Pediatric patients with KS commonly show neurodevelopmental disorders and cryptorchidism. We have reported a case of a 14-yr-old boy with KS and severe obesity (body mass index, 38.1 kg/m(2)), insulin (IRI) resistance (homeostatic model assessment 1 IRI resistance, 9.26), hyperlipidemia (serum low-density lipoprotein cholesterol level, 192 mg/dL; serum triglyceride level, 239 mg/dL), hypergonadotropic hypogonadism, and learning difficulties. The karyotype was 47, XXY, t(4;5) (q21.2;q32). Initially, he was unwilling to accept dietary restrictions and perform physical exercise against obesity. Testosterone replacement therapy was initiated at 16 years of age, which successfully improved the body composition, IRI resistance, and hyperlipidemia and increased the serum testosterone levels. Additionally, he adhered to recommendations for exercise and dietary restrictions. Patients with KS have risks of obesity and metabolic syndrome with sarcopenic conditions due to hypergonadotropic hypogonadism. Pediatricians should be aware of KS as a primary disease causing obesity. Testosterone replacement therapy could help ameliorate obesity and its comorbidities in patients with obesity and KS.
format Online
Article
Text
id pubmed-8267554
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher The Japanese Society for Pediatric Endocrinology
record_format MEDLINE/PubMed
spelling pubmed-82675542021-07-19 Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy Fukuhara, Shota Mori, Jun Nakajima, Hisakazu Clin Pediatr Endocrinol Case Report Klinefelter syndrome (KS) is a sex chromosome disorder characterized by the presence of one or more extra X chromosomes. KS is well known by the common karyotype 47, XXY and presents as male infertility with hypogonadism in adults. Pediatric patients with KS commonly show neurodevelopmental disorders and cryptorchidism. We have reported a case of a 14-yr-old boy with KS and severe obesity (body mass index, 38.1 kg/m(2)), insulin (IRI) resistance (homeostatic model assessment 1 IRI resistance, 9.26), hyperlipidemia (serum low-density lipoprotein cholesterol level, 192 mg/dL; serum triglyceride level, 239 mg/dL), hypergonadotropic hypogonadism, and learning difficulties. The karyotype was 47, XXY, t(4;5) (q21.2;q32). Initially, he was unwilling to accept dietary restrictions and perform physical exercise against obesity. Testosterone replacement therapy was initiated at 16 years of age, which successfully improved the body composition, IRI resistance, and hyperlipidemia and increased the serum testosterone levels. Additionally, he adhered to recommendations for exercise and dietary restrictions. Patients with KS have risks of obesity and metabolic syndrome with sarcopenic conditions due to hypergonadotropic hypogonadism. Pediatricians should be aware of KS as a primary disease causing obesity. Testosterone replacement therapy could help ameliorate obesity and its comorbidities in patients with obesity and KS. The Japanese Society for Pediatric Endocrinology 2021-07-10 2021 /pmc/articles/PMC8267554/ /pubmed/34285454 http://dx.doi.org/10.1297/cpe.30.127 Text en 2021©The Japanese Society for Pediatric Endocrinology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Case Report
Fukuhara, Shota
Mori, Jun
Nakajima, Hisakazu
Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title_full Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title_fullStr Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title_full_unstemmed Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title_short Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
title_sort klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267554/
https://www.ncbi.nlm.nih.gov/pubmed/34285454
http://dx.doi.org/10.1297/cpe.30.127
work_keys_str_mv AT fukuharashota klinefeltersyndromeinanadolescentwithsevereobesityinsulinresistanceandhyperlipidemiasuccessfullytreatedwithtestosteronereplacementtherapy
AT morijun klinefeltersyndromeinanadolescentwithsevereobesityinsulinresistanceandhyperlipidemiasuccessfullytreatedwithtestosteronereplacementtherapy
AT nakajimahisakazu klinefeltersyndromeinanadolescentwithsevereobesityinsulinresistanceandhyperlipidemiasuccessfullytreatedwithtestosteronereplacementtherapy