Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis.
Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis.
复制标题
胚胎睾丸退化序列：46,XY 性腺发育不全临床谱的一部分。
DOI：
10.1002/ajmg.1320490102
复制
发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Berkovitz,GD
中科院分区：
文献类型：
--
作者：
Marcantonio,SM;Fechner,PY;Migeon,CJ;Perlman,EJ;Berkovitz,GD
我们报告了一组9名受试者，他们的染色体核型为46，XY，生殖器模糊，性导管形成异常，一侧或两侧性腺组织缺乏。这有时被称为“胚胎睾丸退化”。以前的研究人员认为，这种情况是由于在发育的关键阶段失去睾丸造成的。我们研究了“胚胎睾丸退化”是46，XY性腺发育不全临床谱的一部分的可能性。
We report on a group of 9 subjects who had a 46, XY karyotype, ambiguous genitalia, abnormalities of sexual duct formation, and lack of gonadal tissue on one or both sides. This is sometimes referred to as “embryonic testicular regression.” Previous investigators have suggested that this condition results from loss of testes at a critical stage in development. We examined the possibility that the “embryonic testicular regression” is part of the clinical spectrum of 46, XY gonadal dysgenesis.