Published online Mar 26, 2020. doi: 10.12998/wjcc.v8.i6.1172
Peer-review started: November 13, 2019
First decision: February 20, 2020
Revised: February 27, 2020
Accepted: March 5, 2020
Article in press: March 5, 2020
Published online: March 26, 2020
The incidence of short stature in KBG syndrome is relatively high. Data on the therapeutic effects of growth hormone (GH) on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized.
Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy. The girl was referred to our department because of short stature. Physical examination revealed mild dysmorphic features. The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL, respectively. The level of insulin-like growth factor 1 (IGF-1) was 42.0 ng/mL. Genetic analysis showed a c.2635 dupG (p.Glu879fs) mutation in the ANKRD11 gene. She received GH therapy. During the first year of GH therapy, her height increased by 0.92 standard deviation score (SDS). Her height increased from -1.95 SDS to -0.70 SDS after two years of GH therapy. There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases. Height SDS was improved in nine (9/10) of them. The mean height SDS in five children with KBG syndrome accompanied by short stature increased from -2.72 ± 0.44 to -1.95 ± 0.57 after the first year of GH therapy (P = 0.001). There were no adverse reactions reported after GH treatment.
GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.
Core tip: KBG syndrome is a rare autosomal dominant disorder. The percentage of height below 10th centile is relatively high at 66%. Children with KBG syndrome accompanied by short stature could benefit from growth hormone therapy.