Table 1.

Clinical Findings and Hormonal Profiles of the Patients

	Patient 1	Patient 2	Patient 3	Patient 4
Gender	Female	Male	Female	Male
Age, y	19.6	18	15.5	19
Bone age, y	13	12	13	14
Height, cm	144	133.0	132.0	143.0
Height (SDS)	−3.0	−5.7	−4.7	−4.6
Mean parental height (SDS)	−1.7	−1.0	−1.4	−1.4
Weight, kg	46	30.6	32.0	36.6
BMI, kg/m2	22.2	17.3	18.4	17.9
BMI (SDS)	0.2	−2.5	−0.7	−2.3
NEUROG3 gene mutation	L135P/L135P	L135P/L135P	R107S/R107S	R107S/R107S
Age at diabetes diagnosis, y	0.05a	13	12	24
Basal LH/FSH, mIU/mL	0.15/1.7	0.03/0.48	0.10/0.2	0.10/1.4
Gonadotropin stimulation test	GnRH analog (100 μg)	GnRH analog (100 μg)	Leuprolide acetate (500 μg)	Leuprolide acetate (500 μg)
Peak stimulated LH/FSH, mIU/mL	0.52/6.8	0.93/3.52	1.2/n.d.	1.6/n.d.
Estradiol, pg/mL	Below detection limit of the assay	n.d.	10.4	n.d.
T, ng/mL	0.26	0.17	n.d.	0.22
IGF-1, ng/mL	265	139	236	107
IGF-1 SDS	0.19	−1.58	−0.22	−2.0
IGFBP-3, mg/L	2.7	3.5	3.5	2.6
IGFBP-3 SDS	−1.53	0.0	−0.79	−1.2
Pubertal stage at the time of IGF-1 and IGFBP-3 sampling	Prepubertal	Prepubertal	Prepubertal	Prepubertal
Hypothalamic-pituitary imaging	Normal MRI (1.5 T, 3 mm slice)	Normal CT scan	Normal MRI (1.5 T, 2 mm slice)	Normal MRI (1.5 T, 2 mm slice)
Other clinical features	Genu valgum, cubitus valgum, short neck	Genu valgum		Mild left hemiparesis

Abbreviations: CT, computed tomography; n.d., not determined.

^aThis patient had transient neonatal diabetes that relapsed at 6 years of age.