Aromatase deficiency
| Disorder | |
|---|---|
| OMIM #: | #613546 (Click to access OMIM database) |
| Disorder: | Aromatase deficiency |
| Also known as: | |
| Clinical | |
| Phenotype: | male: masculinization of mother during pregnancy, eunucoid proportions female: masculinization of mother during pregnancy, clitoromegaly, posterior labioscrotal fusion, primary amenorrhea, virilization, enlarged cystic ovaries, absent breast development, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | CYP19A1 |
| Base Change: | G>A, at nucleotide 1304 |
| Amino Acid Change: | arg 435 --> his |
| Last updated: | 2022-11-01 |
| References |
|---|
| Bulun SE. (2014) Aromatase and estrogen receptor α deficiency. Fertility and Sterility 101(2): 323-329. PubMed ID: 24485503 |
| Kim SY, Colaiacovo S, Dave S, Coughlin K, Langdon K, Stein R, Saleh M. (2021) Aromatase deficiency in an Ontario Old Order Mennonite family. J Pediatr Endocrinol Metab Aug 5;34(12):1615-1618. PubMed ID: 34348419 |
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