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Disorders at the Testicular Level

2010; Wiley; Linguagem: Inglês

10.1007/978-3-540-78355-8_13

2047-2927

Eberhard Nieschlag, Hermann M. Behre, Peter Wieacker, Dieter Meschede, Axel Kamischke, Sabine Kliesch,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Bilateral congenital anorchia occurs only in one of 20,000 males. Unilateral congenital anorchia is about four times as frequent. Vascular and genetic disturbances, intrauterine infections, trauma or terato-genic factors are discussed as causes for the loss of one or both testes. A suspected abnormality in the sex-determining region of the Y chromosome, the SRY gene, could not be confirmed so far (Lobacarro et al. 1993). Nor could mutations in other genes responsible for testicular development and descent be clearly identified to date (Vinci et al. 2004; Philibert et al. 2007). Currently intrauterine torsion is favored as the most probable cause.