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1. 性分化疾患の原因causes of disorders of sex development [show details]
…a very rare cause of CAH. POR deficiency causes abnormal electron transport leading to decreased action of both 21-hydroxylase and 17-alpha hydroxylase, as well as aromatase. The phenotype is quite variable; …
2. 21-ヒドロキシラーゼ欠損症により乳児や小児に生じる典型的な先天性副腎皮質過形成の診断diagnosis of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in infants and children [show details]
… abnormal adrenal ultrasonography (ie, adrenal limb width >4 mm, lobulated surface, or abnormal echogenicity) had 92 percent… is mediated by 21-hydroxylase due to mutations in the CYP21A2 gene. Based upon neonatal screening studies that detect classic CAH, 21-hydroxylase deficiency (21OHD)…
3. 21－ヒドロキシラーゼ欠損症による古典的先天性副腎皮質過形成の遺伝学および臨床症状genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency [show details]
… to corticotropin-releasing hormone stimulation, reduced catalytic activity of the 21-hydroxylase enzyme, and abnormal gonadotropin dynamics with excess ovarian production of progesterone, 17-hydroxyprogesterone …
4. 乳児や小児の21-ヒドロキシラーゼ欠損症による典型的な先天性副腎皮質過形成の治療treatment of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in infants and children [show details]
… This treatment may prevent abnormal genital development in affected female fetuses but… autosomal recessive deficiency of 21-hydroxylase, due to mutations of the CYP21A2 gene. Deficiency of 21-hydroxylase interferes with conversion of 17-hydroxyprogesterone…
5. 21－ヒドロキシラーゼ欠損症による非古典的（遅発性）先天性副腎皮質過形成の遺伝学および臨床症状genetics and clinical presentation of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency [show details]
… there were no cases found in either 222 subjects with abnormal semen analysis or a concurrent control group of 262 men with normal semen analysis .… 21-hydroxylase deficiency have low fertility rates that correlate with the severity of the mutation. In contrast, subfertility is milder in women with the nonclassic form of 21-hydroxylase deficiency…