Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
| Disorder | |
|---|---|
| OMIM #: | #201810 (Click to access OMIM database) |
| Disorder: | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
| Also known as: | 3-β-OH-steroid dehydrogenase deficiency 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY 3-BETA-HSD DEFICIENCY (HSDB) ADRENAL HYPERPLASIA II |
| Clinical | |
| Phenotype: | adrenal hyperplasia, salt loss, hyponatremia, acute adrenal crisis, hyperkalemia, disorder of sexual differentiation, adrenal insufficiency, premature pubic hair development, Males have; disorder of sexual differentiation, hypospadias, bifid scrotum, poor virilization, hypogenitalism, gynecomastia Females present with; disorder of sexual differentiation, labial fusion, hirsutism, clitoromegaly, polycystic ovaries |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. |
| Mutations | |
| 1 Amish | |
| Gene: | HSD3B2 |
| Base Change: | G>A, at nucleotide 35 |
| Amino Acid Change: | gly 12 --> glu |
| Last updated: | 2022-12-08 |
| References |
|---|
| Auchus RJ. (2022) The uncommon forms of congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes Jun 1;29(3):263-270. PubMed ID: 35621178 |
| Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. (2015) Severe salt-losing 3β-hydroxysteroid dehydrogenase deficiency: treatment and outcomes of HSD3B2 c.35G>A homozygotes. J Clin Endocrinol Metab Aug;100(8):E1105-15. PubMed ID: 26079780 |
| Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet 121(1): 18-31. PubMed ID: 12888983 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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