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Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis.
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-03-14 , DOI: 10.1002/ajmg.c.31782
Alan D Rogol 1
Affiliation  

Sex chromosome aneuploidies (SCA) are relatively common as a group, perhaps 1 per 500 births, but much more common at conception. Many syndromes have been noted in those with these conditions, but not so many data are available concerning the hypothalamic–pituitary–gonadal (HPG) axis. The physiology of the HPG axis is first reviewed at four epochs in time: fetal, birth and mini‐puberty, childhood, and adolescence (puberty). Those sections are followed by detailed analysis of the functioning of the HPG axis in individuals with specific SCA with chromosomal numbers ranging from 45 to 49. Robust data are available for the chromosomal complements 47,XXY and 47,XXX with fewer data available for many of the others.

中文翻译:

人类性染色体非整倍性:下丘脑-垂体-性腺轴。

性染色体非整倍体(SCA)作为一个群体相对普遍,每500胎中可能有1个,但在受孕时更为普遍。在这些情况下,已经注意到许多综合症,但是关于下丘脑-垂体-性腺(HPG)轴的数据很少。HPG轴的生理学首先要在四个时期进行检查:胎儿,出生和小青春期,儿童期和青春期(青春期)。在这些部分之后,详细分析了具有SCA编号在45到49之间的特定SCA的个体的HPG轴的功能。对于染色体补体47,XXY和47,XXX可获得可靠的数据,而对于许多人的可用数据较少其他。
更新日期:2020-03-14
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