Table 4.
Clinical data for patients with genotype-phenotype discordance
| Patient | Genotype group | Genotype | Phenotype | Gender | Clinical data at presentation |
|---|---|---|---|---|---|
| 1 | 0 | Deletion/p.R356W | SV | M | 46XX diagnosed at 3 yr 6 months due to ambiguous genitalia and pubic hair. Raised as male. |
| 2 | 0 | Deletion/30-kb deletion | SV | M | Pubic hair at 4 yr; basal 17OHP 3,174 ng/dl. Bone age 11 yr 6 months. |
| 3 | 0 | 30-kb deletion/30-kb deletion | SV | M | Growth acceleration at <5 yr; basal 17OHP 16,946 ng/dl. |
| 4 | 0 | Exon 6 cluster/p.Leu307fs, p.Q318X | SV | F | Ambiguous genitalia. Normal electrolytes off treatment as an infant. |
| 5 | 0 | p.I172N, p.G110Efs/30-kb deletion/p.I172N, exon 6 cluster, p.Leu307fs, IVS2-13A/C>G, p.Q318X | SV | M | Pubic hair at 4 yr; basal 17OHP 7,860 ng/dl; PRA elevated at 11.7 ng/ml/h. Bone age 10 yr. |
| 6 | A | IVS2-13A/C>G/deletion | SV | M | Pubic hair at 3 yr 5 months when younger brother diagnosed with CAH after a neonatal SW crisis. |
| 7 | A | IVS2-13A/C>G/deletion | SV | F | Ambiguous genitalia. Electrolytes normal while off fludrocortisone. No history of adrenal crises. |
| 8 | A | IVS2-13A/C>G/IVS2-13A/C>G | SV | F | Ambiguous genitalia. No history of SW crisis despite being off medication for >10 yr. |
| 9 | A | IVS2-13A/C>G/p.R356W | SV | F | Ambiguous genitalia. Initially thought to be healthy male. No SW crisis despite lack of neonatal treatment. |
| 10 | A | IVS2-13A/C>G/p.R356W | SV | F | Ambiguous genitalia. Diagnosed at 3 yr 11 months; basal 17OHP 36,123 ng/dl. |
| 11 | A | IVS2-13A/C>G/30-kb deletion | SV | F | Ambiguous genitalia. Presented at 10 yr with significant virilization. Pubic hair since 5 yr. |
| 12 | B | p.I172N/deletion | SW | M | Adrenal crisis at 1 wk. |
| 13 | B | p.I172N/deletion | SW | F | Ambiguous genitalia. Adrenal crisis at 6 months. |
| 14 | B | p.I172N/deletion | SW | F | Ambiguous genitalia. Adrenal crisis at 6 wk. |
| 15 | B | p.I172N/IVS2-13A/C>G | SW | F | Ambiguous genitalia. Adrenal crisis at 6 wk and multiple times during the first year. |
| 16 | B | p.I172N/p.Q318X | SW | F | Ambiguous genitalia. Adrenal crises at 7 d and 4 wk. |
| 17 | B | p.I172N/p.I172N | NC | F | Normal genitalia. Diagnosed at 7 yr due to increased growth and pubic hair. Basal 17OHP 3,557 ng/dl. |
| 18 | B | p.I172N/IVS2-13A/C>G | NC | F | Normal genitalia. Diagnosed at 5 yr 4 months with increased growth velocity. Basal 17OHP 5,541 ng/dl. |
| 19 | C | p.V281L/p.V281L, p.I172N | SV | F | Born with ambiguous genitalia. No adrenal crises. |
M, Male; F, female; 17OHP, 17-hydroxyprogesterone; PRA, plasma renin activity. Conversion factor for SI unit calculation: for 17OHP, multiply nanograms per deciliter by 0. 0302 to find nanomoles per liter.