Clinical Feature | Case 1 | Case 2 | Case 3 | Case 4 |
---|---|---|---|---|
Age at presentation | 2 yr | 14 mo | 5 yr 9 mo | 3 yr 11 mo |
Sex | M | M | M | F |
Presenting symptoms | Short stature, poor growth | Short stature, poor growth, episodes suggesting hypoglycemia | Short stature, poor growth | Short stature, poor growth |
Height | On 1st centile | <1st centile | <1st centile | <1st centile |
Antenatal/perinatal events | IUGR at 34 wk gestation, neonatal hypoglycemia | Breech presentation, elective CS | Neonatal hypoglycemia | Maternal hypertension, forceps delivery for fetal distress |
Seizures | 0 | 1 Generalized seizure | 0 | 0 |
Family history | 0 | Cousin with epilepsy, maternal GM with anosmia | 0 | 0 |
Vision/fundi | Asymptomatic, n/t | N | Asymptomatic, n/t | N |
Other examination findings | Micropenis, small nasal dimple | Micropenis | 0 | 0 |
Maximum GH response to glucagon (normal >20 mI U/L) | 19 | 27 | 3 | 3 |
Free thyroxine (normal range, 10–25 pmol/L) | 7.2 | Total T4 = 110 nmol/L (normal range, 70–155 nmol/L), TSH = 2.1 mIU/L (normal range, <5 mIU/L) | 6.3 | 12.1 |
Plasma cortisol (8:30 am) (normal range, 200–750 nmol/L) | 330 | 546 | 200 | n/t |
Prolactin (normal range, 50–500 mIU/L) | n/t | n/t | 40 | 76 |
Response to GH treatment | On 15th centile | >1st centile after 6 mo | On 3rd centile (on GH, thyroxine, hydrocortisone) | >25th centile |
HESX1 mutation | 0 | n/t | n/t | + (father and sister also have mutation) |
Note.—M indicates male; F, female; IUGR, intrauterine growth; CS, caesarian section; GM, grandmother; n/t, not tested; N, normal; 0, absent; GH, growth hormone; TSH, thyroid-stimulating hormone.