. 2018 Nov 8;180(1):89–98. doi: 10.1530/EJE-18-0861
This work is licensed under a Table 1.
Survey of Endo-ERN reference centres (RC) showing extent of awareness and participation in rare disease registries for conditions included in Endo-ERN within the 8 broad main thematic groups (MTG). Data is presented as n or n (%)
| Endo-ERN MTGs and conditions surveyed | RC surveyed | RC responded | Awareness of registries | Participation in registries | ||||
|---|---|---|---|---|---|---|---|---|
| International | National | Local | International | National | Local | |||
| MTG1. Adrenal | 33 | 28 (85) | ||||||
| Phaeochromocytoma | 16 (57) | 7 (25) | 16 (57) | 10 (36) | 6 (21) | 14 (50) | ||
| Adrenocortical carcinoma | 20 (71) | 15 (54) | 15 (54) | 13 (46) | 6 (21) | 15 (54) | ||
| Cortisol producing adenomas | 19 (68) | 8 (29) | 12 (43) | 12 (43) | 8 (29) | 12 (43) | ||
| Bilateral macronodular hyperplasia | 13 (46) | 4 (14) | 11 (39) | 8 (29) | 4 (14) | 11 (39) | ||
| Bilateral micronodular hyperplasia | 13 (46) | 3 (10) | 10 (36) | 7 (25) | 3 (11) | 10 (36) | ||
| (Primary) adrenal insufficiency | 8 (29) | 5 (18) | 13 (46) | 2 (7) | 5 (18) | 13 (46) | ||
| Congenital adrenal hyperplasia | 15 (54) | 15 (54) | 17 (61) | 6 (21) | 15 (54) | 17 (61) | ||
| Familial hyperaldosteronism | 6 (21) | 4 (14) | 8 (29) | 3 (11) | 4 (14) | 6 (21) | ||
| MTG2. Calcium and phosphate | 29 | 24 (83) | ||||||
| Hypercalcaemia | 3 (13) | 4 (17) | 11 (46) | 2 (8) | 4 (17) | 11 (46) | ||
| Hypocalcaemia | 1 (4) | 2 (8) | 13 (54) | 0 (0) | 2 (8) | 13 (54) | ||
| Phosphate disturbances | 4 (17) | 4 (17) | 15 (63) | 2 (8) | 2 (8) | 15 (63) | ||
| MTG3. Glucose amd insulin | 29 | 24 (83) | ||||||
| Hyperinsulinism | 5 (21) | 9 (38) | 10 (42) | 3 (12) | 6 (24) | 9 (38) | ||
| Insulin-resistance syndrome | 12 (50) | 8 (33) | 6 (24) | 9 (38) | 8 (33) | 6 (24) | ||
| Rare diabetes mellitus | 18 (75) | 16 (67) | 12 (50) | 14 (56) | 16 (67) | 12 (50) | ||
| MTG4. Endocrine tumours | 31 | 23 (74) | ||||||
| MEN type 1 | 6 (26) | 8 (35) | 16 (70) | 2 (9) | 8 (35) | 16 (70) | ||
| MEN type 2 | 5 (22) | 4 (17) | 15 (65) | 1 (4) | 4 (17) | 15 (65) | ||
| Carney complex | 1 (4) | 1 (4) | 8 (35) | 0 (0) | 1 (4) | 7 (30) | ||
| Hereditary phaeochromocytoma–paraganglioma | 8 (35) | 7 (30) | 14 (61) | 4 (17) | 7 (30) | 14 (61) | ||
| Von Hippel Lindau syndrome | 6 (26) | 4 (17) | 15 (65) | 3 (13) | 4 (17) | 15 65) | ||
| MTG5. Growth and obesity | 30 | 24 (80) | ||||||
| Prader–Willi and Prader–Willi-like syndrome | 5 (21) | 16 (67) | 19 (79) | 3 (13) | 14 (58) | 18 (75) | ||
| Silver Russell syndrome | 3 (13) | 9 (38) | 10 (42) | 1 (4) | 7 (29) | 9 (38) | ||
| Beckwith Wiedemann syndrome | 1 (4) | 3 (13) | 6 (24) | 1 (4) | 3 (12) | 5 (21) | ||
| Noonan syndrome | 2 8) | 9 (38) | 10 (42) | 1 (4) | 9 (38) | 9 (38) | ||
| GH resistance syndromes | 3 (13) | 5 (21) | 9 (38) | 1 (4) | 5 (21) | 9 (38) | ||
| MTG6. Pituitary | 43 | 35 (81) | ||||||
| Pituitary adenoma | 14 (43) | 17 (49) | 24 (69) | 10 (29) | 17 (49) | 24 (69) | ||
| Congenital hypopituitarism | 7 (20) | 12 (34) | 19 (54) | 5 (14) | 11 (31) | 19 (54) | ||
| Acquired hypopituitarism | 9 (25) | 13 (37) | 20 (57) | 6 (17) | 13 (37) | 20 (57) | ||
| MTG7. Sex development | 37 | 27 (73) | ||||||
| Sex chromosome DSD | 18 (67) | 12 (44) | 18 (67) | 13 (48) | 10 (37) | 18 (67) | ||
| 46, XX DSD | 19 (70) | 12 (44) | 17 (63) | 14 (52) | 10 (37) | 17 (63) | ||
| 46, XY DSD | 19 (70) | 13 (48) | 18 (67) | 14 (52) | 11 (41) | 18 (67) | ||
| Congenital hypogonadotrophic hypogonadism | 15 (56) | 10 (37) | 16 (59) | 9 (33) | 10 (37) | 16 (59) | ||
| MTG8. Thyroid | 35 | 28 (80) | ||||||
| Thyroid signalling disorders | 6 (21) | 4 (14) | 8 (29) | 2 (7) | 4 (14) | 7 (25) | ||
| Congenital hypothyroidism | 2 (7) | 18 (64) | 12 (43) | 0 (0) | 15 (54) | 11 (39) | ||
| Congenital hyperthyroidism | 1 (4) | 1 (4) | 4 (14) | 0 (0) | 1 (4) | 3 (11) | ||
| Non-metastatic thyroid macro-carcinoma | 5 (18) | 15 (54) | 16 (57) | 0 (0) | 15 (54) | 16 (57) | ||
| Radioiodine sensitive differentiated thyroid cancer | 3 (11) | 8 (29) | 12 (43) | 0 (0) | 8 29) | 12 (43) | ||
| Non-metastatic medullary thyroid carcinoma | 4 (14) | 11 (39) | 14 (50) | 0 (0) | 11 (39) | 14 (50) | ||