Table 2.

Features of mutated tissue in hereditary syndromes of primary hyperplasia with hormone excess (See also Table 1).

Syndrome nodules	Genes and germline mutations @	Mutated sensor moleule	Tissue over-functioning	Predominat hyperplasia	Progress to or adenomas – – – – – – – – –
Sporadic					Germline
					origin	origin
NSHPT#	CASR=	CaS-R	Parathyroid	Yes	Rare	No
CNT	TSHR+	TSH-R	Thyroid follicle	Yes	Yes	Yes
FMPP	LHR+	LH-R	Leydig cell of testis	Yes	Rare	Yes
OHSS	FSHR+	FSH-R	Corpus luteum of pregnancy	Yes	Yes	No
HAIIIA	KCNJ5−	Kir3.4	Adrenal cortex	Yes	Yes	Yes

^#Abbreviations: Congenital neonatal thyrotoxicosis CNT; Neonatal severe primary hyperparathyroidism NSHPT; hyperaldosteronism type III HAIII; Familial male-limited precocious puberty FMPP; Ovarian hyperstimulation syndrome OHSS. CaS-R extracellular calcium sensing receptor; TSH-R TSH receptor; LH-R LH receptor; FSH-R FSH receptor; Kir3.4 inward rectifying potassium channel subunit 3.4;.

^@Mutation types are: − heterozygous loss of function (inactivation); = homozygous loss of function (inactivation); + heterozygous gain of function (activation).