Table 1.
Signs and symptoms and demographic information at presentation of Cushing’s syndrome in patients with multiple endocrine neoplasia type 1.
| Patient ID | Presenting Signs/ Symptoms |
Age at Diagnos is of CS (years) |
Sex (M/F) |
Year of CS Diagnosi s |
MEN1 (Sporadi c/ Familial) |
Germline MEN1 mutation (location) |
Other manifestations of MEN1 |
|---|---|---|---|---|---|---|---|
| Cushing's Disease Group | |||||||
| 1 | Wt gain, irritability, insomnia, poor growth | 10 | M | 2004 | Familial | NA (a) | Angiofibromas |
| 2 | Wt gain, headaches | 14 | M | 1989 | Familial | NA (b) | HPT |
| 3 | Wt gain, bone aches, easy bruisability, acne | 15 | M | 2005 | Familial | NA (a) | HPT |
| 4 | Wt gain, violaceous striae, acneiform rash, easy bruisability | 22 | M | 1978 | Familial | NA (b) | HPT |
| 5 | Wt gain, fatigue, muscle weakness | 29 | F | 1957 | Sporadic | NA (b) | HPT |
| 6 | Amenorrhea | 30 | F | 1987 | Sporadic | Q258X (exon 4) | HPT, ZES, prolactinoma |
| 7 | Wt gain, weakness, depression, fatigue | 30 | F | 1993 | Familial | 512delC (exon 2) | HPT, insulinoma, lipomas |
| 8 | Prospective screen | 38 | M | 1980 | Familial | K119Del (exon 2) | HPT, ZES |
| 9 | Not available | 41 | M | 1999 | Familial | N (a) | HPT, ZES |
| 10 | Wt gain, truncal obesity, insomnia, easy bruisability | 47 | F | 1980 | Sporadic | 894-9 G->A (intron 4) | HPT, ZES, lipomas |
| 11 | Wt gain, facial plethora, fatigue, hypokalemia, HTN | 58 | F | 2004 | Familial | mut not found | HPT |
| ACTH-independent Cushing's, Adrenal Tumor Group | |||||||
| 12 | Wt gain, decreased concentration, fatigue, round facies, buffalo hump, HTN | 25 | M | 1997 | Familial | L22R (exon 2) | HPT, ZES, pancreatic NE tumor |
| 13 | Wt gain, menorrahgia, proximal muscle weakness, easy bruisability | 38 | F | 1990 | Familial | 735del4 (exon 3) | HPT |
| 14 | Proximal muscle weakness, DM, HTN, confusion, easy bruisability | 66 | F | 1965 | Familial | C431Y (exon 9) | HPT, pituitary microadenoma |
| Cushing's Syndrome from Unknown Etiology Group | |||||||
| 15 | Wt gain, truncal obesity, HTN, hirsutism | 30 | F | 1970 | Familial | 1132delG (exon 7) | HPT, ZES, prolactinoma, bronchial carcinoid,esophageal leiomyoma, angiofibroma |
| 16 | Wt gain, weakness, easy bruisability, buffalo hump, decreased concentration | 37 | F | 1988 | Familial | 713delG (exon 3) | HPT, ZES, lipomas |
| 17 | Wt gain, fatigue | 44 | F | 2000 | Familial | 1650delC (exon 10) | HPT, ZES, angifibromas, lipomas |
| 18 | Wt gain, fatigue, muscle weakness, decreased concentration | 46 | M | 1994 | Sporadic | F447S (exon 9) | HPT, ZES, bronchial carcinoids |
| 19 | Wt gain, fatigue, hirsutism, HTN | 64 | F | 1990 | Sporadic | NA (b) | HPT |
(a)
genetic testing not performed at time of NIH Clinical Center evaluation, and patient lost to follow-up.
(b)
genetic testing not available at time of NIH Clinical Center evaluation, and patient lost to follow-up.
Abbreviations: CS, Cushing’s syndrome; M, male; F, female; MEN1, multiple endocrine neoplasia type 1; wt, weight; HPT, hyperparathyroidism; ZES, Zollinger-Ellison syndrome; HTN, hypertension; DM, diabetes mellitus, NA, result not available; mut not found, mutation testing performed but no germline MEN1 mutation found.