巨大精巣
出典: フリー百科事典『ウィキペディア(Wikipedia)』 (2024/06/07 20:25 UTC 版)
巨大精巣 (きょだいせいそう)[1](p88)、巨大睾丸 (きょだいこうがん)、巨睾丸症 (きょこうがんしょう)(英: Macroorchidism)とは、男性、特に小児にみられる、精巣が異常に大きい疾患である。この疾患は脆弱X症候群(FXS)と関連して遺伝することが多く、知的障害の遺伝的原因として2番目に多い[2]。また、稀にマッキューン・オルブライト症候群の徴候でもある[3]。
- ^ “日本小児科学会用語集”. 日本小児科学会. 2024年5月10日閲覧。
- ^ a b c d Lozano, Reymundo; Summers, Scott; Lozano, Cristina; Mu, Yi; Hessl, David; Nguyen, Danh; Tassone, Flora; Hagerman, Randi (September 2014). “Association between macroorchidism and intelligence in FMR1 premutation carriers” (英語). American Journal of Medical Genetics Part A 164 (9): 2206–2211. doi:10.1002/ajmg.a.36624. PMC 4332881. PMID 24903624 .
- ^ a b c d e Styne, Dennis M. (2019). “Physiology and Disorders of Puberty”. Williams Textbook of Endocrinology 26: 1023–1164.e25 .
- ^ a b c Maheshwari, R.; Bharath, R.; Karthik, T. Sriram; Prasad, N. Rajendra; Rani, P. Radha; Reddy, P. Amaresh (2013-04-01). “Macroorchidism as presenting feature of Fragile X Syndrome” (英語). Journal of Clinical and Scientific Research 2 (2): 108. doi:10.4103/2277-5706.241247. ISSN 2277-5706 .
- ^ a b c d e f g h De Sanctis, Vincenzo; Marsella, Maria; Soliman, Ashraf; Yassin, Mohamed (February 2014). “Macroorchidism in childhood and adolescence: an update”. Pediatric Endocrinology Reviews: PER 11 (Suppl 2): 263–273. ISSN 1565-4753. PMID 24683950 .
- ^ a b c d e Jones, Kenneth Lyons (June 18, 2021) (English). Smith's Recognizable Patterns of Human Malformation (8th ed.). Elsevier. pp. 198–225. ISBN 978-0323638821
- ^ Hoffmann, Anne; Berry-Kravis, Elizabeth (2016-01-01), Sala, Carlo; Verpelli, Chiara, eds., “Chapter 20 - Fragile X Syndrome” (英語), Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability (San Diego: Academic Press): pp. 325–346, ISBN 978-0-12-800109-7 2022年10月18日閲覧。
- ^ a b Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Gupta, Kumar K. (2013-01-01). “An unusual case of precocious puberty and macroorchidism” (英語). Thyroid Research and Practice 10 (1): 29. doi:10.4103/0973-0354.105845. ISSN 0973-0354 .
- ^ Terpos, Evangelos; Gavriatopoulou, Maria (2019-01-01), Huhtaniemi, Ilpo; Martini, Luciano, eds. (英語), Multiple Myeloma Bone Disease, Oxford: Academic Press, pp. 329–340, ISBN 978-0-12-812200-6 2022年11月6日閲覧。
- ^ a b García, Marta; Barrio, Raquel; García-Lavandeira, Montserrat; Garcia-Rendueles, Angela R.; Escudero, Adela; Díaz-Rodríguez, Esther; Gorbenko Del Blanco, Darya; Fernández, Ana et al. (March 2017). “The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways” (英語). Scientific Reports 7 (1): 42937. Bibcode: 2017NatSR...742937G. doi:10.1038/srep42937. ISSN 2045-2322. PMC 5338029. PMID 28262687 .
- ^ Anyanwu, Lofty-John C.; Sowande, Oludayo A.; Asaleye, Christianah M.; Saleh, Mohammed K.; Mohammad, Aminu M.; Onuwaje, Mayomi; Olajide, Timothy A.; Talabi, Ademola O. et al. (2020-03-02). “Testicular volume: correlation of ultrasonography, orchidometer and caliper measurements in children”. African Journal of Urology 26 (1): 6. doi:10.1186/s12301-020-0016-z. ISSN 1961-9987.
- ^ a b c d e Protic, D.; Kaluzhny, Petrina; Tassone, F.; Hagerman, R. (2019). “Prepubertal Metformin Treatment in Fragile X Syndrome Alleviated Macroorchidism: A Case Study” (英語). Advances in Clinical and Translational Research.
- ^ Wass, John A. H.; Karavitaki, Niki (2017-01-01), Melmed, Shlomo, ed., “Chapter 19 - Nonfunctioning and Gonadotrophin-Secreting Adenomas” (英語), The Pituitary (Fourth Edition) (Academic Press): pp. 589–603, ISBN 978-0-12-804169-7 2022年11月4日閲覧。
- ^ Drummond, Juliana Beaudette; Ribeiro-Oliveira, Antônio; Soares, Beatriz Santana (2000), Feingold, Kenneth R.; Anawalt, Bradley; Boyce, Alison et al., eds., “Non-Functioning Pituitary Adenomas”, Endotext (South Dartmouth (MA): MDText.com, Inc.), PMID 30521182 2022年11月23日閲覧。
- ^ Whittle, Emma; Falhammar, Henrik (2019-04-18). “Glucocorticoid Regimens in the Treatment of Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis”. Journal of the Endocrine Society 3 (6): 1227–1245. doi:10.1210/js.2019-00136. ISSN 2472-1972. PMC 6546346. PMID 31187081 .
- 巨大精巣のページへのリンク