Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
| Disorder | |
|---|---|
| OMIM #: | #202110 (Click to access OMIM database) |
| Disorder: | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency |
| Also known as: | ADRENAL HYPERPLASIA V, 17-ALPHA-HYDROXYLASE DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED |
| Clinical | |
| Phenotype: | Impaired production of androgens, estrogen, and cortisol, hypokalemic alkalosis, hypertension, sexual infantism in females, primary amenorrhea, disorder of sexual differentiation in males |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | CYP17A1 |
| Base Change: | c.1435_1438dupATCC |
| Amino Acid Change: | p.Pro480Hisfs*27 |
| Last updated: | 2022-11-01 |
| References |
|---|
| Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ. (1992) Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Hum Genet Apr;89(1):95-6. PubMed ID: 1577471 |
| Kagimoto K, Waterman M, Kagimoto M, Ferreira P, Simpson E, and Winter J. (1989) Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet 82: 285-286. PubMed ID: 2786493 |
| Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. (1988) Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Mol Endocrinol Jun;2(6):564-70. PubMed ID: 2843762 |
Back