Table 2.

Genetic and clinical characteristics of patients with clinically non-familial primary hyperparathyroidism (PHPT) displaying germline mutations in the MEN1, CASR, or HRPT2/CDC73 genes

ID	Age	Sex	Gene	Exon; base	Effect	PP2	CaPre	PTHPre	Cr	24 h U-Ca	Ca/Cr Clear	Symptoms and signs	Operation	IOPTH decline	Pathology	Gland weight(mg)a	CaPost	PTHPost
96	32	F	MEN1	2; 18	Insertion; 18_19insC	NA	13.9	167	0.6	ND	ND	neurocognitive nephrolithiasis osteoporosis	MIP → 4-gland exploration	61%	HYPERPLASIA	2,882	10.9	97
119	40	F	MEN1	3; 578	Missense; P193L	0.983	11.4	162	0.8	ND	ND	nephrolithiasis osteoporosis	MIP	66%	SINGLE ADENOMA	4,870	9.4	105
346	29	M	MEN1	2; 134	Missense; E45G	0.998	11.8	94	0.9	527	0.020	neurocognitive	MIP	59%	SINGLE ADENOMA	1,026	8.9	37
349	40	F	MEN1	10; 1747	Nonsense; Q583STOP	NA	10.8	71	0.8	386	0.016	neurocognitive nephrolithiasis osteoporosis	REDO 4 gland exploration	55%	HYPERPLASIA	314	10.1	38
242	41	F	CASR	7; 2597	Deletion; 2597_2598del	NA	11.3	62	0.8	143	0.010	neurocognitive osteoporosis	4 gland exploration	85%	DOUBLE ADENOMA	214	9.6	5
289	39	F	CASR	7; 2111	Missense; L704P	0.899	10.5	65	0.8	210	0.011	neurocognitive osteoporosis	MIP → 4 gland exploration	71%	DOUBLE ADENOMA	176	9.3	24
488	35	M	CASR	4; 892	Missense; A298T	0.963	10.9	73	0.9	169	0.010	neurocognitive	MIP → 4 gland exploration	75%	HYPERPLASIA	757	8.7	5
473	16	M	HRPT2	3; 271	Nonsense; R91STOP	NA	15.8	859	0.8	ND	ND	nephrolithiasis	MIP	92%	SINGLE ADENOMA	4,500	9.6	4

Reference ranges: calcium 8.8–10.2 mg/dl; PTH 10–65 pg/ml; creatinine 0.5–1.2 mg/dl; calcium/creatinine clearance, upper limit for FHH is 0.010²³

PP2 PolyPhen-2²⁰, Ca serum calcium, PTH serum parathyroid hormone, IOPTH intraoperative PTH, Pre preoperative, Post postoperative, F female, M male, MIP minimally invasive parathyroidectomy

^aTotal excised gland weight, normal upper limit parathyroid gland weight is 39 mg²²