Table 1.
Clinical Phenotypes of the Patients Included in the Study
| Patient ID | Clinical Diagnosis a | Sex |
Age
|
Hormonal Studies
|
Other Findings | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| At Diagnosis | Current | Cortisol | ACTH | Response to ACTH | Aldosterone | Renin | ||||
| ACTHR01.03 | AAAS | M | 1 y | 14 y | Low | High | — | — | — | |
| ACTHR06.03 | AAAS | M | 11 mo | 28 y | Low | — | Suboptimal | — | — | |
| ACTHR09.03 | FGD | F | 3 mo | N/A | Low | High | — | Normal | Normal | |
| ALS17.03 | AAAS | F | 8 mo | 14 y | Normal | Normal | — | — | — | |
| ALS20.03 | FGD | F | 2 y | 16 y | Low | High | — | — | — | |
| ALS21.03 | AAAS | M | 4 y | 16 y | Low | Low | Yes | — | — | FGF10 mutation |
| ALS22.03 | FGD | F | 6 d | 18 y | Low | High | No | Normal | Low | |
| ALS23.03 | AAAS | F | 4 y | N/A | Low | High | No | Normal | Normal | |
| ALS25.03 | AAAS | M | 2 y | N/A | — | High | Yes | — | Normal | |
| ALS25.04 | AAAS | M | 5 wk | N/A | — | High | — | — | Normal | |
| ALS26.03 | FGD | M | 7 y | N/A | Low | High | Suboptimal | Normal | Normal | GHD |
| ALS27.03 | FGD | F | 8 y | N/A | Low | High | No | Normal | Normal | |
| ALS28.03 | AAAS | F | 2 y | N/A | Low | — | — | — | — | |
| ALS29.03 | AAAS | M | 1.5 y | N/A | Low | High | — | — | — | |
| ALS30.01 | AAAS | F | 3 y | N/A | Low | High | — | — | — | |
| ALS30.03 | AAAS | M | — | Undetectable | High | — | — | — | ||
| ALS32.05 | AAAS | M | 18 y | N/A | Low | Low | — | — | — | |
| ALS33.05 | FGD | M | 8 y | N/A | Low | Low | No | — | — | |
| ALS34.03 | FGD | F | 3 y | N/A | Low | High | No | — | Normal | |
| ALS35.03 | FGD | M | 3 y | 6 y | Low | High | No | — | Normal | |
| ALS35.08 | FGD | F | 15 y | 16 y | — | — | No | — | — | |
Abbreviation: N/A, not available.
a
Parameters for clinical diagnosis of AAAS and FGD as stated in Materials and Methods. Cortisol levels are presented in nmol/L (normal morning cortisol, 193–607); ACTH levels are presented in pmol/L (normal, 1.1 to 11.4). For aldosterone and renin, normal is reported based on the laboratory value or on a lack of symptoms in patients on glucocorticoid supplementation only.