Table 1.
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.
This patient had transient neonatal diabetes that relapsed at 6 years of age.