Table 2.
Clinical details for patients with DC treated with androgens
| Patient | Gene | Indication for androgens | Androgen used | Dose | Hematological response* | Side effects | Outcome/last follow-up |
|---|---|---|---|---|---|---|---|
| NCI-6-1 | TERC | SAA | Halotestin | 10 mg/d (0.14 mg/kg/d) | Yes | Virilization | Alive, on androgen, bone marrow stable, progressive pulmonary fibrosis |
| NCI-106-1 | DKC1 | SAA | Oxymetholone | 0.8 mg/kg/d, then 2 mg/kg/d | Yes | Splenic peliosis and rupture when oxymetholone and granulocyte colony-stimulating factor coadministered; oxymetholone stopped and restarted at higher dose after recovery due to drop in blood counts; advanced bone age | Died age 19, post-HCT |
| NCI 164-2 | RTEL1 | Thrombocytopenia | Oxymetholone | 0.5 mg/kg/d | Initial response, lost after 3 y | None known | Died age 14 of pulmonary AVM complications, post-HCT |
| NCI 165-1 | PARN | Transfusion-dependent anemia | Oxymetholone | 0.75 mg/kg/d | Initial response, lost after 5 y when developed MDS | None known | Died age 14, post-HCT |
| NCI 180-1 | RTEL1 | SAA | Oxymetholone | 1 mg/kg/d | Yes | Hypercholesterolemia with low HDL, high LDL requiring treatment with statin; advanced bone age | Alive, post-HCT |
| NCI 288-1 | DKC1 | Short telomeres, moderate thrombocytopenia | Danazol | 800 mg/d × 2 y, 400 mg/d thereafter | No | Hypercholesterolemia with low HDL, high LDL | Died age 54 of SCC tongue |
| NCI 474-1 | Unknown | Thrombocytopenia | Danazol | 4 mg/kg/d | Yes | None known | Alive, on androgen |
| Baylor 1 | TINF2 | Thrombocytopenia | Danazol | 1.5-5 mg/kg/d | Yes | Premature puberty, lipid abnormalities with low HDL | Alive, danazol discontinued due to side effects |
| Baylor 2 | TINF2 | Thrombocytopenia | Danazol | 1.6-2.7 mg/kg/d | Yes | None known | Alive, on androgen |
| Baylor 3 | DKC1 | Thrombocytopenia | Danazol | 5 mg/kg/d | Yes | None known | Alive, on androgen |
AVM, arteriovenous malformation; HDL, high-density lipoprotein cholesterol; LDL, low-density lipoprotein cholesterol; MDS, myelodysplastic syndrome; SAA, severe aplastic anemia; SCC, squamous cell carcinoma.
*
Hematological response defined as increase in hemoglobin by 2 g/dL, platelet count >30 × 109/L, ANC >1.5 × 109/L, or stabilization of progressively declining blood counts.