Table 2.

Natural FSHR mutations.

Patient/FSHR Mutation *	Puberty	Amenorrhea	Ovary	Ovarian Histology	Receptor Function In Vitro
Paris 1 a/Pro519Thr	Delayed	Primary	Hypoplasic	↑Primordial and primary follicles	Total loss of function
Finnish 1 b/Ala189Val	Delayed	Primary	Hypoplasic	↓Primordial; ↓secondary rare mature follicles	c-AMP: ∼29% of WT FSHR; IP3: almost totally lost
Paris 2 c/Asp224Val, Leu601Val	Normal	Primary	Normal	Primordial, primary, secondary and antral follicles up to 3 mm diameter	c-AMP: ∼4% and 12% of WT FSHR
Paris 3 d/Ile160Thr, Arg573Cys	Normal	Secondary	Normal	Primordial, primary, secondary and antral follicles up to 5 mm diameter	c-AMP: ∼9% and 24% of WT FSHR
Animal model
FSHR KO mice e			Hypoplasic	Primordial, primary, secondary follicles	Total inactivation

WT FSHR, wild-type FSH receptor. * References: ^a Meduri et al. [36]; ^b Aittomäki et al. [29]; Rannikko et al. [104]; ^c Touraine et al. [112]; ^d Beau et al. [111]; ^e Dierich et al. [96]. ↑: increased number; ↓: decreased number.