Table 1.
Summary of characteristics of seven cases with rare pathogenic peptidylglycine α-amidating monooxygenase (PAM) variants.
| ID | Diagnosis | Gender | Pathogenic PAM variant(s) | Ethnicity | Age at disease onset (years) | Age at PA diagnosis (years) | Tumor size (mm) | Treatment | Other clinical diagnoses |
|---|---|---|---|---|---|---|---|---|---|
| II-2* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | <10 | 37 | 4 | PegV | Hypogonadism, adrenal nodules, pleural masses, severe osteopenia, muscular atrophy, diverticulosis |
| II-3* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | <10 | 37 | 5 × 6 | TSS, SSA, PV | Hypogonadism, pancreatic and colon adenocarcinoma |
| III-3* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | 1 | 3 | n.a. | SSA, PegV | Hypotonia |
| NIH26 | Pediatric CD | F | c.2332-2A>T (p.His778fs) | Caucasian | 12 | 14 | 3 | TSS | Scleroderma |
| NIH36 | Pediatric CD | F | c.-133T>C | African-American | 12 | 13 | 10 | TSS (×3) | None |
| Belgium128 | GH excess (gigantism) | M | c.2276T>C (p.Phe759Ser) | Latino | 18 | 20 | Macro | TSS, SRL | None |
| Belgium197 | GH excess (acromegaly) | M | c.1654G>A (p.Gly552Arg), c.1688A>G (p.Asp563Gly) | Caucasian | 40 | 41 | 40 | TSS, SRL, RTx | None |
F, female; M, male; n.a., not applicable; PA, pituitary adenoma; PegV, pegvisomant; RTx, radiotherapy; SRL, somatostatin receptor ligand; TSS, transsphenoidal surgery.
*Member of the index FIPA kindred.