Summary of clinical and hormonal abnormalities

Clinical FeatureCase 1Case 2Case 3Case 4
Age at presentation2 yr14 mo5 yr 9 mo3 yr 11 mo
Presenting symptomsShort stature, poor growthShort stature, poor growth, episodes suggesting hypoglycemiaShort stature, poor growthShort stature, poor growth
HeightOn 1st centile<1st centile<1st centile<1st centile
Antenatal/perinatal eventsIUGR at 34 wk gestation, neonatal hypoglycemiaBreech presentation, elective CSNeonatal hypoglycemiaMaternal hypertension, forceps delivery for fetal distress
Seizures01 Generalized seizure00
Family history0Cousin with epilepsy, maternal GM with anosmia00
Vision/fundiAsymptomatic, n/tNAsymptomatic, n/tN
Other examination findingsMicropenis, small nasal dimpleMicropenis00
Maximum GH response to glucagon (normal >20 mI U/L)192733
Free thyroxine (normal range, 10–25 pmol/L)7.2Total T4 = 110 nmol/L (normal range, 70–155 nmol/L), TSH = 2.1 mIU/L (normal range, <5 mIU/L)6.312.1
Plasma cortisol (8:30 am) (normal range, 200–750 nmol/L)330546200n/t
Prolactin (normal range, 50–500 mIU/L)n/tn/t4076
Response to GH treatmentOn 15th centile>1st centile after 6 moOn 3rd centile (on GH, thyroxine, hydrocortisone)>25th centile
HESX1 mutation0n/tn/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.