Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.

[aromatase deficiency]

In this study , we report on three Japanese patients with cytochrome P 450 oxidoreductase (POR ) deficiency (PORD ). Case one was a 46 ,XY patient who was found to have mildly increased 17 alpha-hydroxyprogesterone (17 -OHP ) by the neonatal mass screening . There was no maternal virilization during pregnancy , and he had no skeletal or genital abnormality . Thus , he was initially diagnosed as having nonclassical 21 -hydroxylase deficiency (21 -OHD ). Cases two and three were 46 ,XX patients who were identified because of severely virilized external genitalia and maternal virilization during pregnancy . In case two , the neonatal mass screening was normal , and she had no skeletal abnormality except for mild adduction of bilateral third toes . Thus , she was initially diagnosed as having aromatase deficiency . In case three , the neonatal mass screening showed moderately increased 17 -OHP , and no skeletal lesion other than rigid second metacarpophalangeal joints was identified in early infancy . Thus , she was initially suspected as having 21 -OHD and /or aromatase deficiency . Subsequently , endocrine studies including urine steroid hormone analysis were performed for the assessment of glucocorticoid treatment in case one and for the virilized genitalia in cases two and three , showing adrenal and /or gonadal dysfunction characteristic of PORD . Thus , molecular analysis of POR was carried out , demonstrating homozygosity for R 457 H in cases one through three . The results imply that clinical features in PORD can be similar to those in 21 -OHD or aromatase deficiency , and that comprehensive assessment of the pregnant course , physical examination , and adrenal and gonadal function studies is essential for the precise diagnosis of PORD .

Diseases
Validation

Diseases presenting "genital abnormality" symptom

aromatase deficiency

This symptom has already been validated