Cortisol 11-Beta-ketoreductase deficiency
| Disorder | |
|---|---|
| OMIM #: | #218030 (Click to access OMIM database) |
| Disorder: | Cortisol 11-Beta-ketoreductase deficiency |
| Also known as: | Apparent Mineralcorticoid Excess AME |
| Clinical | |
| Phenotype: | short stature, failure to thrive, severe hypertension, increased renal salt reabsorption, hypokalemia, metabolic alkalosis, suppressed serum renin activity, decreased serum aldosterone, increased urinary cortisol to cortisone ratio |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | HSD11B2 |
| Base Change: | C>T, at nucleotide 680 |
| Amino Acid Change: | pro 227 --> leu |
| Last updated: | 2022-11-03 |
| References |
|---|
| New MI, Wilson RC. (1999) Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA Oct 26;96(22):12790-7. PubMed ID: 10536001 |
| Ugrasbul F, Wiens T, Rubinstein P, New MI, Wilson RC. (1999) Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab 84(12):4735-8. PubMed ID: 10599743 |
| Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI. (1998) A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci U S A 95(17):10200-5. PubMed ID: 9707624 |
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