Table 1.
Clinical and hormonal follow-up of affected patients
| Parameters | Patient V.1 | Patient V.2 | Patient V.4 |
|---|---|---|---|
| Gender | Female | Female | Male |
| Chronologic age (years) | 16.6 | 16.6 | 13.1 |
| Bone age (years) | 13 | 13 | 12 |
| BMI (kg/m2) | 19.5 | 19.5 | 19.8 |
| Karyotype | 46, XX | 46, XX | 46, XY |
| Brain and pituitary MRI | Normal | Normal | Normal |
| TSH (μU/mL) | 1.26 | 2.12 | 2.74 |
| FT4 (pmol/mL) | 14.6 | 14.8 | 13.3 |
| Prolactin (ng/mL) | 13.54 | 10.58 | 12.47 |
| ACTH (pg/mL) | 16 | 27.45 | 41.7 |
| IGF-1 (ng/mL) | NE | NE | 153 |
| Basal LH (mU/mL) | 0.16 | 0.06 | 0.34 |
| Basal FSH (mU/mL) | 1.5 | 0.6 | 1.6 |
| Basal testosterone (ng/mL) | 0.31 | < 0.45 | 0.13 |
| Basal estradiol (pg/mL) | 16 | 15 | < 10 |
| Response to insulin-induced hypoglycemia test (0.1 U/Kg, 30 min) | |||
| Plasma glucose (mmol/L) | |||
| Basal | 4.59 | 4.29 | 4.96 |
| Nadir | 2.44 | 3.1 | 3.05 |
| Cortisol (ng/mL) | |||
| Basal | 75 | 89 | 89 |
| Peak | 115 | 113 | 112 |
| GH (ng/mL) | |||
| Basal | 0.13 | 0.06 | 0.33 |
| Peak | 3.16 | 1.7 | 0.28 |
| Response to Synacthen test (1 μg) | |||
| Cortisol (ng/mL) | |||
| Basal | 142.6 | NE | NE |
| Peak 30–60 min | 207.2–325.05 | NE | NE |
Normal reference ranges are mentioned in “Laboratory testing” section. A positive response of cortisol to an insulin-induced hypoglycemia test (0.1 U/Kg body weight, intravenously, at 30 min post-stimulation), or stimulatory Synacthen test (1 μg, at 30 min and 1 h post-stimulation), when the cortisol peak is more than 180 ng/mL. A complete somatotropin deficiency was diagnosed when the GH peak is less than 5 ng/mL in response to hypoglycemia stimulatory test.
Abbreviations: BMI body mass index, TSH thyroid-stimulating hormone, FT4 free thyroxine, ACTH adrenocorticotropic hormone, IGF-1 insulin-like growth factor-1, LH luteinizing hormone, FSH follicle-stimulating hormone, GH growth hormone, NE not evaluated