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.
Keywords: fertility; gonadotropins; hypogonadism; puberty; sex chromosome aneuploidies.
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