TABLE 1:

Summary of clinical and hormonal abnormalities

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 1^st centile	<1^st centile	<1^st centile	<1^st 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 15^th centile	>1^st centile after 6 mo	On 3^rd centile (on GH, thyroxine, hydrocortisone)	>25^th 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.