Growth hormone therapy for children with KBG syndrome: A case report and review of literature

Table 1 Clinical features of seven previously reported children and our girl with KBG syndrome using growth hormone therapy

Case	P1	P2	P3	P4	P5	P6	P7	P8
Gender	Male	Male	Female	Male	Female	Male	Female	Female
Country	Sweden	Sweden	China	Australia	Australia	Italy	Italy	China
Pregnancy complication	Normal	Polyhydramnios	Normal	Advanced maternal age	Normal	Normal	Normal	Normal
Gestational age	38.5 wk	40 wk and 6 d	Full term	40 wk	32 wk	Full term	Full term	Full term
Delivery	Breech presentation	Normal	Vaginal delivery	Vaginal delivery; Fetal distress and meconium liquor	Cesarean section	Cesarean section	Cesarean section	Vaginal delivery
Birth length, cm	47 (–1.5 SDS)	50 (–0.5 SDS)	48 (-0.90 SDS)	50th	NA	NA	NA	50 (0.1 SDS)
Birth weight, g	2940 (–0.6 SDS)	3945 (1 SDS)	2400 (-2.19 SDS)	NA (< 10th)	NA (90th)	NA	NA	3400 (0.58 SDS)
Referred age, yr	5.5	7	7.6	15	4	9	4	5.5
Chief complain	Short stature	Short stature	Short stature	NA	NA	NA	NA	Short stature
Height SDS	-2.4 SDS	–2.8 SDS	-2.82 SDS	< -1.88 SDS	< -1.88 SDS	-2.58 SDS	-3.25 SDS	-1.95 SDS
Midparental height	-1.2 SDS	–0.3 SDS	-1.6 SDS	NA	NA	NA	NA	-1.6 SDS
Peak GH	40.3 mU/L	10 mU/L (GH deficit)	5.7 ng/mL	NA	NA	No GH deficit	5.1 ng/mL	6.22 ng/mL
IGF-1	88 ng/mL	51, 76, and 56 ng/mL	271 ng/mL	NA	NA	NA	NA	42 ng/mL
Thyroid function	Normal	Normal	Normal	NA	NA	Subclinical hypothyroidism	Small thyroid	Normal
Delayed bone age, yr	Delayed 3.0	Delayed 1.5	Delayed 3.6	Yes	No	Yes	No	Delayed 1.0
Pituitary MRI /Brain imaging	NA	Normal	Normal	NA	Neonatal seizures; Multiple calcific foci in brain; Arachnoid cyst; Germinolytic cysts	Unspecific structural abnormalities	Enlarged cisterna magna; Leptomeningeal cyst	Normal
GH therapy started age	10.5 yr	7.4 yr	7.9 yr	15 yr	Not known	11 yr	5.2 yr	5.5 yr
Height SDS	-3.1 SDS	–2.8 SDS	-2.87 SDS	< -1.88 SDS	Not known	-2.86 SDS	-2.87 SDS	-1.95 SDS
GH dose	35 μg/kg/d	30 μg/kg/d	52 μg/kg/d	NA	NA	NA	NA	50 μg/kg/d
Others	Triptorelin was added at 12.5 yr	No	Intermittent treatment	No	No response to rhGH therapy	No	No	No
ANKRD11 aberrations	c.3836del (p.Ser1279fs)	c.1903_1907del(p.Lys635Glnfs * 26)	c.6972dupc (p.p2271pfs*8)	No genetic testing	c.6472G > T (p.Glu2158)	c.7534C > T (p.Arg2512Trp)	c.3339G > A (p.Trp1113Ter)	c.2635 dupG (p.Glu879fs)

Two children with KBG syndrome accompanied by short stature with GH therapy (P9 and P10) who had no detailed clinical information are not shown in this table. NA: Not applicable; P: Patient.