A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been documented into adulthood. Moreover, no cases of 49,XXXYY have been reported in Japan. This SCA has been identified in two scenarios: in vitro fer...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
The Japan Endocrine Society
2024-07-01
|
| Series: | Endocrine Journal |
| Subjects: | |
| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ24-0015/_html/-char/en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832591920092676096 |
|---|---|
| author | Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi |
| author_facet | Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi |
| author_sort | Junko Kanno |
| collection | DOAJ |
| description | 49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been documented into adulthood. Moreover, no cases of 49,XXXYY have been reported in Japan. This SCA has been identified in two scenarios: in vitro fertilization and abortion. Similar to 47,XXY, this aneuploidy is a type of Klinefelter syndrome. Aneuploidy of the X chromosome can lead to various progressive complications due to excess X chromosomes. Herein, we present the case of a Japanese man with 49,XXXYY. He exhibited developmental delays and external genitalia abnormalities since early infancy but was not closely monitored for these symptoms until the age of 3 years old. At that time, a chromosome test revealed his karyotype to be 49,XXXYY. Subsequent examinations were conducted due to various symptoms, including delayed motor development, intellectual disability, facial dysmorphisms, forearm deformities, hip dysplasia, cryptorchidism, micropenis, primary hypogonadism, and essential tremor. Since reaching puberty, he has undergone testosterone replacement therapy for primary hypogonadism, experiencing no complications related to androgen deficiency to date. He has maintained normal lipid and glucose metabolism, as well as bone density, for a prolonged period. There are no other reports on the long-term effects of testosterone treatment for the SCA. Appropriate testosterone replacement therapy is recommended for individuals with 49,XXXYY to prevent complications. This report will contribute to an enhanced understanding of the 49,XXXYY phenotype, aiding in the diagnosis, treatment, and genetic counseling of future cases. |
| format | Article |
| id | doaj-art-8971f06e81a041beac4bd95f1f800ada |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-8971f06e81a041beac4bd95f1f800ada2025-01-22T05:12:19ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-07-0171772172710.1507/endocrj.EJ24-0015endocrjA case of 49,XXXYY followed-up from infancy to adulthood with review of literatureJunko Kanno0Akinobu Miura1Sayaka Kawashima2Hirohito Shima3Dai Suzuki4Miki Kamimura5Ikuma Fujiwara6Masayuki Kamimura7Mitsugu Uematsu8Masataka Kudo9Atsuo Kikuchi10Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Orthopaedic Surgery, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, JapanDepartment of Nephrology and Endocrinology, Osaki Citizen Hospital, Osaki 989-6136, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been documented into adulthood. Moreover, no cases of 49,XXXYY have been reported in Japan. This SCA has been identified in two scenarios: in vitro fertilization and abortion. Similar to 47,XXY, this aneuploidy is a type of Klinefelter syndrome. Aneuploidy of the X chromosome can lead to various progressive complications due to excess X chromosomes. Herein, we present the case of a Japanese man with 49,XXXYY. He exhibited developmental delays and external genitalia abnormalities since early infancy but was not closely monitored for these symptoms until the age of 3 years old. At that time, a chromosome test revealed his karyotype to be 49,XXXYY. Subsequent examinations were conducted due to various symptoms, including delayed motor development, intellectual disability, facial dysmorphisms, forearm deformities, hip dysplasia, cryptorchidism, micropenis, primary hypogonadism, and essential tremor. Since reaching puberty, he has undergone testosterone replacement therapy for primary hypogonadism, experiencing no complications related to androgen deficiency to date. He has maintained normal lipid and glucose metabolism, as well as bone density, for a prolonged period. There are no other reports on the long-term effects of testosterone treatment for the SCA. Appropriate testosterone replacement therapy is recommended for individuals with 49,XXXYY to prevent complications. This report will contribute to an enhanced understanding of the 49,XXXYY phenotype, aiding in the diagnosis, treatment, and genetic counseling of future cases.https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ24-0015/_html/-char/en49,xxxyytestosterone replacement therapyklinefelter syndromesex chromosomal aneuploidy (sca) |
| spellingShingle | Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi A case of 49,XXXYY followed-up from infancy to adulthood with review of literature Endocrine Journal 49,xxxyy testosterone replacement therapy klinefelter syndrome sex chromosomal aneuploidy (sca) |
| title | A case of 49,XXXYY followed-up from infancy to adulthood with review of literature |
| title_full | A case of 49,XXXYY followed-up from infancy to adulthood with review of literature |
| title_fullStr | A case of 49,XXXYY followed-up from infancy to adulthood with review of literature |
| title_full_unstemmed | A case of 49,XXXYY followed-up from infancy to adulthood with review of literature |
| title_short | A case of 49,XXXYY followed-up from infancy to adulthood with review of literature |
| title_sort | case of 49 xxxyy followed up from infancy to adulthood with review of literature |
| topic | 49,xxxyy testosterone replacement therapy klinefelter syndrome sex chromosomal aneuploidy (sca) |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ24-0015/_html/-char/en |
| work_keys_str_mv | AT junkokanno acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT akinobumiura acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT sayakakawashima acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT hirohitoshima acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT daisuzuki acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT mikikamimura acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT ikumafujiwara acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT masayukikamimura acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT mitsuguuematsu acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT masatakakudo acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT atsuokikuchi acaseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT junkokanno caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT akinobumiura caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT sayakakawashima caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT hirohitoshima caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT daisuzuki caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT mikikamimura caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT ikumafujiwara caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT masayukikamimura caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT mitsuguuematsu caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT masatakakudo caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature AT atsuokikuchi caseof49xxxyyfollowedupfrominfancytoadulthoodwithreviewofliterature |