Table 1.

Clinical characteristics of patients

	Mutation	LOH/UPD	PHPT history			Screening of related tumors after genetic diagnosis			Additional Medical History of Endocrine or Cancer Disorders (or remarkable)
			Ca max (mmol/L)	PTH max (pmol/L)	Histology diagnosis	Pituitary MRI	CT thorax and abdomen	Abnormal lab tests
Case 1	CDKN1B c.280_281delinsG, p.(Pro94Alafs*25)	No	3.39	4,950	APA	Lack of neurohypophyseal bright signal	Enlarged right adrenal gland Bilateral renal cysts	CgA: 493.9 μg/L	Colon tubule-villous adenoma with low-grade dysplasia Atypical lipomas Obesity T2DM Primary hypothyroidism
Case 2	CDKN1B c.169C>T, p.(Gln57*)	No	3.37	33,963	MGD: 3 glands parathyroid hyperplasia and 1 APA	Normal	No tumours	CgA: 1,947.1 μg/L Gastrin: 132.6 pmol/L Prl: 6,127.2 pmol/L FSH: 106 UI/L LH: 79.4 UI/L T(t): 4.23 nmol/L T(f): 0.01 nmol/L IGF1: 5.85 nmol/L	Subclinical hypothyroidism Obesity Aberrant T-cell population Chronic idiopathic axonal polyneuropathy
Case 3	CDKN2C c.319T>G, p.(Leu107Val)	Yes	2.84	846	MGD: 1 cystic adenoma and 1 parathyroid adenoma	Nonfunctioning cystic microadenoma	No tumours	CgA 110.3 μg/L Prl 1,358.6 pmol/L UFC 225.5 pg/24 h	Uterine leiomyomas Bilateral ovarian cysts

LOH: loss of heterozygosity; UPD: uniparental disomy; RV: reference value; Ca max: higher blood calcium levels before parathyroid surgery (RV: 2.1–2.55); PTH max: serum higher parathyroid hormone before parathyroid surgery (RV: 95–618); APA: atypical parathyroid adenoma; MGD: multiglandular disease; CgA: chromogranin A (RV < 100); T2DM: type 2 diabetes mellitus; Prl: Prolactin (RV 212.6–1,034.5); Gastrin RV 6.2–54.8; UFC: Urinary free cortisol (RV 36–137), FSH: follicle-stimulating hormone (RV: 1.5–12.4); LH: luteinizing hormone (RV: 1.7–8.6); T(t): total testosterone (RV: 6.69–25.6); T(f): free testosterone (RV: 0.02–0.08); IGF1: insulin-like growth factor 1 (RV: 7.54–26.52); MRI: magnetic resonance imaging; CT: computed tomography