Table 1.
Genotype and clinical characteristics of parents with cryptic 21-hydroxylase deficiency.
| Patient | Age (years) |
Sex | Ethnicity | Genotype | Proband’s genotype/ phenotype |
Clinical history | Adrenal imaging | Hospitalizations and surgeries |
|---|---|---|---|---|---|---|---|---|
| 1 | 54 | F | Ashkenazi Jewish | p.V281L/deletion | p.V281L/p.V281L NC | Androgenic alopecia, two term pregnancies | Not performed | None |
| 2 | 49 | F | Italian | Deletion/p.V281L | Deletion/deletion SV | Two term pregnancies, one following clomiphene | Not performed | Tonsillectomy Appendectomy Cholecystectomy C-sections×2 |
| 3 | 46 | F | Anglo-Saxon Russian | p.I172N/p.P482Sa | p.I172N/p.V281L NC | Cystic acne requiring antibiotics and irregular menses as adolescent, two term pregnancies, one following clomiphene | Normal | C-section Arthroscopic knee surgery Bladder suspension surgery Jaw surgery |
| 4 | 45 | F | Anglo-Saxon Italian | p.I172N/p.P453S | p.I172N/p.I172N SV | Four term pregnancies, one following infertility for 4 years, no therapy, topical eflornithine for hirsutism | Normal | Knee surgeries×5 |
| 5 | 41 | F | Hispanic Italian | IVS2-13A/C> G/p.V281L | IVS2-13A/C> G/p.V281L NC | Irregular menses until age 27, two term pregnancies, electrolysis for hirsutism | Bilateral adrenal hypertrophy; right 1.5-mm myelolipoma | None |
| 6 | 33 | F | Italian | Deletion/p.V281L | Deletion/deletion SW | Two term pregnancies, both following clomiphene | Normal | None |
| 7 | 27 | F | Greek German Anglo-Saxon Swedish | 30 kb Deletion/p.P453S | Deletion/30 kb deletion SW | Acne as teenager, one term pregnancy | Normal | Bilateral ankle surgery D&C following miscarriage |
| 8 | 74 | M | Italian | p.I172N/p.V281L | p.I172N/p.I172N NC | Normal puberty, four children | Not performed | None |
| 9 | 66 | M | Latvian | p.I172N/p.P453S | IVS2–13A/C> G/p.I172N SV | Normal puberty, two children | Normal | None |
| 10 | 55 | M | Anglo-Saxon | IVS2–13A/C> G/p.V281L | IVS2–13A/C> G/deletion SW | Normal puberty, three children | Moderate bilateral adrenal hypertrophy | Multiple traumatic injuries after motorcycle accident with prolonged ICU stay |
a
Rare mutation detected by sequencing CYP21A2; mutations in bold are those not detected in proband. SW, salt wasting CAH; SV, simple virilizing CAH; NC, nonclassic CAH.