Table 3.

Clinical characteristics of four ISS subjects with identified NPR2 heterozygous variants

	Case 1	Case 2	Case 3
Variant	c.2762G>A	c.1483C>T	c.1792T>A
Sex	M	M	M
Before GH treatmenta
Age (years)	10.3	9.5	12.1
Height z‐score	−2.57	−2.49	−2.77
BMI z‐score	−1.19	−0.86	0.43
BA‐CA (years)	−0.8	−2.0	−2.6
Peak GH (ng/ml)	NA	23.6	7.3
IGF‐1 SDS	−1.05	1.59	−1.23
IGFBP‐3 SDS	−1.62	4.53	−0.88
Pre‐GH treatment GV (cm/year)	4.5	5.4	4.7
After 1st year of GH treatment
Height z‐score	−1.85	−1.81	−2.49
BMI z‐score	−0.86	−1.13	0.32
GH dose (mg/kg/wk)	0.32	0.29	0.28
IGF‐1 SDS	1.04	2.50	−0.72
IGFBP‐3 SDS	0.20	4.90	1.18
GV during the 1st year of GH treatment (cm/year)	8.0	8.0	7.2
At last visit during GH treatment
Age (years)	16.0	11.8	13.8
Height z‐score	−0.11	−1.29	−2.28
BMI z‐score	0.34	−1.22	0.17
BA‐CA (years)	0.0	−1.8	0.8
GH dose (mg/kg/wk)	0.22	0.32	0.31
IGF‐1 SDS	1.97	1.40	−1.39
IGFBP‐3 SDS	−1.57	4.62	0.03

Abbreviations: BA, bone age; BMI, body mass index; CA, chronological age; F, female; GH, growth hormone; GV, growth velocity; IGF‐1, insulin‐like growth factor‐1; IGFBP‐3, insulin‐like growth factor‐binding protein‐3; M, male; NA, not available; SDS, standard deviation score.

^aCorresponds to age at diagnosis of idiopathic short stature.