Fujieda Kenji, Mukai Tokuo
Department of Pediatrics, Asahikawa Medical College.
Nihon Rinsho. 2004 Feb;62(2):361-7.
21-hydroxylase deficiency occurring in one of 15,000 live births represents the most frequent disorder in female pseudohermaphroditism. Molecular genetic analysis is useful for ascertaining disease condition. Newborn mass-screening has been conducted in Japan. Prenatal diagnosis and treatment is feasible.
每15000例活产中就有1例发生21-羟化酶缺乏，这是女性假两性畸形中最常见的病症。分子遗传学分析有助于确定病情。日本已开展新生儿群体筛查。产前诊断和治疗是可行的。
