XYY症候群

XYY症候群
	Y染色体
概要
診療科	遺伝医学
分類および外部参照情報
ICD-10	Q98.5
ICD-9-CM	758.8
DiseasesDB	33038
MeSH	D014997
	[ウィキデータで編集]

XYY症候群（XYYしょうこうぐん）、またはヤコブ症候群（Jacob's syndrome）^[1]、スーパー男性は、ヒトの男性がY染色体を一つ多く受け取ってしまった故に47,XYY核型ができてしまう性染色体の異常である。表現型に関しては全く異常がなく、多くの(例：イギリスの97％）男性が自分の核型を知っているわけではないため、専門家の中にはこの状態に症候群という言葉を使うことに対して疑問に思っている者もいる^[2]^[3]。

身体的特徴[編集]

3つのX/Y染色体における偽常染色体領域（en:pseudoautosomal region (PAR1)）のSHOX( SHOX)の遺伝子の適用量の増加は、47XXX,47XYY,47XXYの3つの3倍体すべてにおける身長の値の増加の一因となる^[4]^[5]^[6]。

この症候群が研究され始めたころ、ひどいニキビに悩まされるという症例が報告されたが、現在ニキビ専門の皮膚病学者から、47XYY染色体とニキビの関係はないのではないかと疑われている^[7]。

先天的および後天的なテストステロンレベルは、他の男性と同じ値である ^[8]。

2012年時点の研究によると、このような染色体を持つ男性が、生殖などに関して特別な健康上の問題を抱えているケースはそれほど見られない^[9]。XYY染色体をもっていても子供を作ることが可能である^[10]。

脚注[編集]

[脚注の使い方]

^ Sood, Brittany; W, Roselyn; Fuentes, Clemente (2021-02-19). Jacobs Syndrome. StatPearls Publishing 2021年7月1日閲覧。.
^ Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. (2007). “Sex chromosome abnormalities”. In Rimoin, David L.; Connor, J. Michael.; Pyeritz, Reed E.; Korf, Bruce R. (eds.). Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.). Philadelphia: Churchill Livingstone Elsevier. pp. 1038–1057. ISBN 0-443-06870-4
^ Jacobs, Patricia (3–5 March 2006). "The genetics of XXY, Trisomy X and XYY syndromes: an overview". National Conference on Trisomy X and XYY, UC Davis M.I.N.D. Institute,. Vol. DVD 02. Sacramento: KS&A.
^ Cohen, Pinchas; Shim, Melanie (2007). “Hyperpituitarism, tall stature, and overgrowth syndromes”. In Kliegman, Robert M.; Behrman, Richard E.; Jenson, Hal B.; Stanton, Bonita F. (eds.). Nelson textbook of pediatrics (18th ed.). Philadelphia: Saunders. pp. 2303?2307. ISBN 1416024506 p. 2304: Table 561-1. Differential diagnosis of tall stature and overgrowth syndromes. Postnatal overgrowth leading to childhood tall stature?includes: Klinefelter syndrome (XXY), SHOX　excess syndromes, XYY.
^ Kanaka-Gantenbein, Christina; Kitsiou, Sophia; Mavrou, Ariadni; Stamoyannou, Lela; Kolialexi, Aggeliki; Kekou, Kyriaki; Liakopoulou, Magda;Chrousos, George (April 2004). “Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes:offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes”. Horm Res 61 (5): 205?210. doi:10.1159/000076532. PMID 14752208.
^
Aksglaede, Lise; Skakkebaek, Niels E.; Juul, Anders (January 2008). “Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes”. J Clin Endocrinol Metab 93 (1): 169?176. doi:10.1210/jc.2007-1426. PMID 17940117.
- Tuttelmann, Frank; Gromoll, Jorg (2010). “Novel genetic aspects of Klinefelter's syndrome”. Mol Hum Reprod 16 (6): 386?95. doi:10.1093/molehr/gaq019. PMID 20228051.
^ Plewig, Gerd; Kligman, Albert M. (2000). Acne and rosacea (3rd ed.). Philadelphia: Springer-Verlag. p. 377. ISBN 3540667512
^ Ratcliffe, Shirley G.; Read, Graham; Pan, Huiqi; Fear, Claudine; Lindenbaum, Richard; Crossley, Jennifer (September 1994). “Prenatal testosterone levels in XXY and XYY males”. Horm Res 42 (3): 106?109. doi:10.1159/000184157. PMID 7995613.
^ Gardner, R.J. McKinlay; Sutherland, Grant R.; Shaffer, Lisa G. (2012). Chromosome abnormalities and genetic counseling (4th ed.). Oxford: Oxford University Press. pp. 9-10, 12, 36, 52, 221, 224, 230, 285-286, 293, 440-441, 477-480, 484. ISBN 9780195375336
^ Nielsen, Johannes (1998年). “How is height growth?”. XYY males. An orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark. 2008年1月11日閲覧。

この項目は、医学に関連した書きかけの項目です。この項目を加筆・訂正などしてくださる協力者を求めています（プロジェクト:医学／Portal:医学と医療）。

[1] Sood, Brittany; W, Roselyn; Fuentes, Clemente (2021-02-19). Jacobs Syndrome. StatPearls Publishing 2021年7月1日閲覧。.

[allanson-2] Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. (2007). “Sex chromosome abnormalities”. In Rimoin, David L.; Connor, J. Michael.; Pyeritz, Reed E.; Korf, Bruce R. (eds.). Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.). Philadelphia: Churchill Livingstone Elsevier. pp. 1038–1057. ISBN 0-443-06870-4

[jacobs-3] Jacobs, Patricia (3–5 March 2006). "The genetics of XXY, Trisomy X and XYY syndromes: an overview". National Conference on Trisomy X and XYY, UC Davis M.I.N.D. Institute,. Vol. DVD 02. Sacramento: KS&A.

[SHOX-4] Cohen, Pinchas; Shim, Melanie (2007). “Hyperpituitarism, tall stature, and overgrowth syndromes”. In Kliegman, Robert M.; Behrman, Richard E.; Jenson, Hal B.; Stanton, Bonita F. (eds.). Nelson textbook of pediatrics (18th ed.). Philadelphia: Saunders. pp. 2303?2307. ISBN 1416024506 p. 2304: Table 561-1. Differential diagnosis of tall stature and overgrowth syndromes. Postnatal overgrowth leading to childhood tall stature?includes: Klinefelter syndrome (XXY), SHOX　excess syndromes, XYY.

[5] Kanaka-Gantenbein, Christina; Kitsiou, Sophia; Mavrou, Ariadni; Stamoyannou, Lela; Kolialexi, Aggeliki; Kekou, Kyriaki; Liakopoulou, Magda;Chrousos, George (April 2004). “Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes:offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes”. Horm Res 61 (5): 205?210. doi:10.1159/000076532. PMID 14752208.

[6] Aksglaede, Lise; Skakkebaek, Niels E.; Juul, Anders (January 2008). “Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes”. J Clin Endocrinol Metab 93 (1): 169?176. doi:10.1210/jc.2007-1426. PMID 17940117.
Tuttelmann, Frank; Gromoll, Jorg (2010). “Novel genetic aspects of Klinefelter's syndrome”. Mol Hum Reprod 16 (6): 386?95. doi:10.1093/molehr/gaq019. PMID 20228051.

[7] Tuttelmann, Frank; Gromoll, Jorg (2010). “Novel genetic aspects of Klinefelter's syndrome”. Mol Hum Reprod 16 (6): 386?95. doi:10.1093/molehr/gaq019. PMID 20228051.

[plewig-7] Plewig, Gerd; Kligman, Albert M. (2000). Acne and rosacea (3rd ed.). Philadelphia: Springer-Verlag. p. 377. ISBN 3540667512

[ratcliffe-8] Ratcliffe, Shirley G.; Read, Graham; Pan, Huiqi; Fear, Claudine; Lindenbaum, Richard; Crossley, Jennifer (September 1994). “Prenatal testosterone levels in XXY and XYY males”. Horm Res 42 (3): 106?109. doi:10.1159/000184157. PMID 7995613.

[Gardner_2012-9] Gardner, R.J. McKinlay; Sutherland, Grant R.; Shaffer, Lisa G. (2012). Chromosome abnormalities and genetic counseling (4th ed.). Oxford: Oxford University Press. pp. 9-10, 12, 36, 52, 221, 224, 230, 285-286, 293, 440-441, 477-480, 484. ISBN 9780195375336

[nielsen-10] Nielsen, Johannes (1998年). “How is height growth?”. XYY males. An orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark. 2008年1月11日閲覧。

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