Table 2.
Suggested guidelines for biochemical and instrumental screenings in familial PHPT individuals bearing a genetic mutation.
| Syndrome | Responsible gene | Gene mutation | Recommended age of begin screenings | Type of screenings | Frequency |
|---|---|---|---|---|---|
| MEN1 | MEN1 | Any inactivating MEN1 mutation | Age of 5 | Serum concentration of prolactin | Yearly |
| Age of 8 | Fasting total serum calcium concentration (corrected for albumin) and/or ionized-serum calcium concentration. Fasting serum concentration of full-length PTH | Yearly | |||
| Age of 20 | Fasting serum gastrin concentration | Yearly | |||
| Age of 5 | Head MRI | Every 3–5 years (depending on results of biochemical screenings) | |||
| Age of 20 | Abdominal CT or MRI | Every 3–5 years (depending on results of biochemical screenings) | |||
| MEN2A | RET | C634R/G/F/S/W/Y | Age of 8 | Fasting total serum calcium concentration (corrected for albumin) and/or ionized-serum calcium concentration. Fasting serum concentration of full-length PTH | Yearly |
| Age of 8 | Biochemical screenings for pheochromocytoma | Yearly | |||
| C609/F/R/G/S/Y; C611R/G/F/S/W/Y; C618R/G/F/S/Y; C620R/G/F/S/W/Y; C630R/F/S/Y; D631Y | Age of 8 for individuals with a codon 630 mutation, age of 20 for all the others | Fasting total serum calcium concentration (corrected for albumin) and/or ionized-serum calcium concentration. Fasting serum concentration of full-length PTH | Yearly | ||
| Age of 8 for individuals with a codon 630 mutation, age of 20 for all the others | Biochemical screenings for pheochromocytoma | Yearly | |||
| C515S; G533C; R600Q; K603E; Y606C; T636P; K666E; E768D | Age of 20 | Fasting total serum calcium concentration (corrected for albumin) and/or ionized-serum calcium concentration. Fasting serum concentration of full-length PTH | Yearly | ||
| Age of 20 | Biochemical screenings for pheochromocytoma | Yearly | |||
| MEN4 | CDKN1B | ATG-7G>C | N.A. | N.A. | N.A. |
| G9R | N.A. | N.A. | N.A. | ||
| c.59_77dup19 (K25fs) | N.A. | N.A. | N.A. | ||
| P69L | N.A. | N.A. | N.A. | ||
| W76X | N.A. | N.A. | N.A. | ||
| P95S | N.A. | N.A. | N.A. | ||
| P133T | N.A. | N.A. | N.A. | ||
| Stop1>Q | N.A. | N.A. | N.A. | ||
| FHH1 | CaSR | Any inactivating CaSR mutations | N.A. | N.A. | N.A. |
| FHH2 | GNA11 | Ile199Del | N.A. | N.A. | N.A. |
| FHH3 | AP2S1 | R15C; R15L; R15H | N.A. | N.A. | N.A. |
| NSHPT | CaSR | Homozygote inactivating CaSR mutations | N.A. | N.A. | N.A. |
| HPT-JT | CDC73 (HRPT2) | Any inactivating CDC73 mutation | N.A | Fasting total serum calcium concentration (corrected for albumin) and/or ionized-serum calcium concentration. Fasting serum concentration of full-length PTH | Every 6–12 months |
| N.A | Panoramic jaw X-ray with neck shielding | Every 5 years | |||
| N.A. | Abdominal MRI | Every 5 years | |||
| N.A. | Transvaginal or transabdominal ultrasound (only in women) | Yearly |
N.A. = not available. Footnotes: N.A. = not available