Ge XY, Ge L, Hu WW, Li XL, Hu YY. Growth hormone therapy for children with KBG syndrome: A case report and review of literature. World J Clin Cases 2020; 8(6): 1172-1179 [PMID: 32258089 DOI: 10.12998/wjcc.v8.i6.1172]
Corresponding Author of This Article
Yan-Yan Hu, MD, Attending physician, Department of Pediatrics, Linyi People’s Hospital, No. 27, East Jiefang Road, Linyi 276000, Shandong Province, China. hyanyansmile@hotmail.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Mar 26, 2020; 8(6): 1172-1179 Published online Mar 26, 2020. doi: 10.12998/wjcc.v8.i6.1172
Growth hormone therapy for children with KBG syndrome: A case report and review of literature
Xiu-Ying Ge, Long Ge, Wen-Wen Hu, Xiao-Ling Li, Yan-Yan Hu
Xiu-Ying Ge, Department of Child Health, Maternal and Child Health Hospital of Linyi, Linyi 276000, Shandong Province, China
Long Ge, Department of Clinical Laboratory, Linyi People’s Hospital, Linyi 276000, Shandong Province, China
Wen-Wen Hu, Department of Pediatrics, The People's Hospital of Lanshan District, Linyi 276000, Shandong Province, China
Xiao-Ling Li, Yan-Yan Hu, Department of Pediatrics, Linyi People’s Hospital, Linyi 276000, Shandong Province, China
Author contributions: Ge XY collected the data, drafted the initial manuscript, and carried out the initial analyses; Ge L was responsible for testing the patient and her parents, and data analysis; Hu WW reviewed and revised the manuscript; Li XL performed data analyses and graphics; Hu YY conceived and designed the study, performed the final data analyses, and wrote the manuscript.
Informed consent statement: The patient’s guardian provided written informed consent to the publication of this case report.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Yan-Yan Hu, MD, Attending physician, Department of Pediatrics, Linyi People’s Hospital, No. 27, East Jiefang Road, Linyi 276000, Shandong Province, China. hyanyansmile@hotmail.com
Received: November 13, 2019 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 Processing time: 133 Days and 14.1 Hours
Abstract
BACKGROUND
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.
CASE SUMMARY
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.
CONCLUSION
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.
