Table 2.
Characteristics of the included studies.
| Study | Age, y/Sex | TSH | FT4 | ACTH | Cortisol | PRKAR1A gene Mutation | CNC and other relevant components |
|---|---|---|---|---|---|---|---|
| Bilkhu et al. (2021) (8) | Infant/M | N | N | NR | N | c.549+1G>A | Dark brown macules, blue naevi, wart like appendage, testis uncertain calcification |
| Ralser et al. (2020) (9) | 31/F | 0.87 (0.27-4.2uU/ml) | NR | <1.5 (7.2-63.3 pg/ml) | 36.1 (5-25 ug/dl) | a large deletion | Lentigines, most likely PMS |
| Chatzikonstantinou et al. (2020) (10) | 53/F | 3.443 (0.4-4uIU/ml) | 1.3 (0.7-1.55 ng/dl) | 30 (0-46 pg/ml) | 15 (4.2-38.4 ug/dl) | c.431dupA | Pigmented spots, thyroid hypoechoic nodules, macules and papules, lentigines, blue nevi, cutaneous myxomas, nipple myxoma, cardiac myxomas, osteochondromyxoma or PMS |
| Shams et al. (2020) (11) | 20/F | N | N | <5 (6-76 pg/ml) | NR | c.531_534delTGAT | Cardiac myxomas, spotty pigmentations, melanocytic nevus, Café au laitlentigo, cutaneous myxoma, thyroid nodules |
| Navarro et al. (2018) (12) | 16/F | N | N | 2 (5–49 pg/ml) | 419 (220–520 nM) | c.709-7_709-2del6 | PPNAD, thyroid cystic nodules |
| Kiriakopoulos et al. (2018) (13) | 35/M | N | N | 1 pg/ml | 24.13-28.49-30.4 μg/dl (8:00-16:00-22:00) | c.487_488 delAC | Pigmented nevi, PPNAD |
| Wang et al. (2018) (14) | 45/M | E | E | NR | NR | c.491_492delTG | Cardiac myxomas, pigmentation, thyroid nodules |
| * Cai et al. (2017) (15) | 15/F | 0.109 µU/ml | N | 1.18-3.67-1.01 pmol/L (8:00-16:00-24:00) | 29.63-26.26-36.82 µg/dl (8:00-16:00-24:00) | a 88 A to G mutation, which changes the initiator ATG to a GTG codon | PPNAD, pituitary microadenoma |
| Papanastasiou et al. (2016) (16) | 53/M | 1.6 (0.35-4.94 uIU/ml) | 14.8 (9.01-21pmol/l) | 5.5 (9-52 pg/ml) | 389 (8AM:138-690 nmol/l) | c.172G>T | Cardiac myxomas, intestinal polyp, spotty pigmentation(lentigines), cutaneous myxomas, thyroid nodules, microcalcifications of the testes, PPNAD |
| Mineo et al. (2016) (17) | 40/M | 0.67 μIU/ml | 0.8 ng/dl | ≤2.0 pg/ml | 24.1μg/dl | c.49G>T | Colon cancer, spotty pigmentation, PPNAD |
| Sun et al. (2015) (18) | 20/M | E | E | NR | NR | heterozygous mutation | Sertoli cell tumor of testis, cardiac myxoma, pigmentation, cutaneous myxomas, thyroid nodules |
| Sun et al. (2015) (18) | 48/F | N | N | N | NR | heterozygous mutation | Cardiac myxomas, cutaneous myxomas, pigmentation, thyroid nodules |
| Jang et al. (2015) (19) | 22/M | N | N | 2.6 pg/ml | 29.37 mg/dl | c.441-2A>G | PMS, PPNAD, LCCSCT, myxoid liposarcoma, skin myxomas, skin pigmentations |
| Álvaro J et al. (2013) (20) | 55/F | 2.99 (0.4-4 uIU/ml) | 0.759 (0.8-1.9 ng/dl) | 21.3 (10-46 ug/l) | 12.9 (5-25 ug/dl) | a mutation | Cardiac myxomas, acromegaly, pituitary macroadenoma, breast carcinoma, skin myxomas, nevi, lentiginosis, breast fibroadenomas, colon adenomatous polyps, colon adenocarcinoma, thyroid nodules |
| Briassoulis et al. (2012) (21) | 13/F | 2.09 (0.4-4 mIU/ml) | NR | NR | 3.5 (8AM:5-25 ug/dl) | c.418_419delCA | Hyperpigmented skin spots, cardiac myxomas |
| Briassoulis et al. (2012) (21) | 29/F | 2.29 (0.4-4 mIU/ml) | NR | 16.3 (8AM:9-52 pg/ml) | 260 (8AM:5-25 ug/dl) | c.491_492delTG | Cranial nerve schwannoma, cardiac myxoma, PPNAD, freckles/lentigines, breast fibroadenomas, thyroid nodule |
| Briassoulis et al. (2012) (21) | 32/F | 1.05 (0.4-4 mIU/ml) | NR | 10.2 (8AM:9-52 pg/ml) | 9.9 (8AM:5-25 ug/dl) | c.177+1G>A | Cardiac myxomas, PPNAD, freckles/lentigines, possible pituitary adenoma |
| Peck et al. (2010) (22) | 17/F | 0.97 (0.4-4 mIU/l) | 1.0 (0.6-1.6 ng/dl) | <5 (8AM:10-60 pg/ml) | 16.9 µg/dl | c.177+3 A>G | Brown-black nevi, PPNAD |
| Courcoutsakis et al. (2009) (23) | 12/M | N | N | NR | NR | c.682C>T | LCCSCT, thyroidal nodule |
| Vandersteen et al. (2009) (24) | 15/M | N | NR | N | N | R288X mutation | Cardiac myxomas, angiomyxoma, lentigines, testicle calcified Sertoli tumour |
| * Sasaki et al. (2008) (25) | 27/F | 0.28 (0.35–4.94 µU/ml) | 11.2 (9.0–19.0 pmol/L) | <1.1pmol/L | 562.8-631.8-656.6 nmol/L (8:00-14:00-23:00) | c.597delC | Pigmented spot, PPNAD, GH-producing pituitary adenoma |
| Urban et al. (2007) (26) | 9/M | N | N | Low normal or subnormal ACTH levels (7.0–16.0 pg/ml) | Markedly elevated at all time points (216–318 ng/ml) | R96X CGA→TGA | Spotty pigmentation, blue nevi, eyelid myxoma, pituitary macro-adenoma, thyroid nodule, PPNAD |
| Carrasco et al. (2006) (27) | 34/F | 2.5 (0.4-4.5 μUI/ml) | 1.0 (0.9-1.5 ng/dl) | <10 (15-37 ug/ml) |
9.2 (7-22 ug/dl) |
578 to 579del TG mutation | Spotty pigmentation, cardiac myxoma, thyroid nodules, mammary fibroadenomas, trigeminal schwannoma, subclinical acromegaly |
*Subclinical hyperthyroidism patients.
CNC, Carney Complex; E, Euthyroid; F, Female; GH: Growth Hormone; LCCSCT, Large Cell Calcifying Sertoli Cell Tumor; M, Male; N, Normal; NR, Not Reported; PPNAD, Primary Pigmented Nodular Adrenocortical Disease; PMS, Psammomatous Melanotic Schwannoma.