Table 3.
Author | Ethnicity | Rearing gender | Consanguineous parents | Age at onset (month) | Manifestations | Adrenal imaging by CT | Treatment | Karyotype | Alleles | Mutation area | Gene mutation | Type of mutation |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Bose et al. [20] | Guatemalan/Amerindian | Female | Yes | 2 | typical | The left adrenal gland was not seen, the right one was small | HC, FC | 46, XY | H | Exon 6 | c.InsA677 | Frameshift |
Our case | Chinese/Asian | Female | No | 2 | typical | Both were small | HC, FC | 46, XY (big Y) | C | Exon 3 Exon 5 |
c. 229C>T c. 722C>T |
Nonsense |
HC Hydrocortisone, FC Fludrocortisone, CT Computed tomography, H Homozygote, C Compound heterozygote