PMID- 28793284
OWN - NLM
STAT- MEDLINE
DCOM- 20180608
LR  - 20220321
IS  - 1663-2826 (Electronic)
IS  - 1663-2818 (Linking)
VI  - 88
IP  - 3-4
DP  - 2017
TI  - Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment 
      Results.
PG  - 258-264
LID - 10.1159/000479368 [doi]
AB  - BACKGROUND/AIMS: Kabuki syndrome (KS) is a rare genetic malformation syndrome, 
      resulting in characteristic features such as short stature. We investigate 
      whether growth hormone (GH) treatment increases linear height and influences body 
      proportions in KS children. METHODS: In this prospective study, 18 genetically 
      confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 
      years (mean 6.8 +/- 2.1 years) were treated with recombinant human GH (rhGH) for 1 
      year. Calculations for height, height velocity, BMI, sitting height, and 
      subischial leg length were made. Bone age, insulin-like growth factor (IGF-I), 
      and IGF binding protein 3 (IGFBP-3) were also measured. RESULTS: This study 
      showed an increase in height standard deviation score (SDS) for the whole group 
      from -2.40 to -1.69 (p < 0.05) after 1 year of rhGH treatment. The change in 
      height SDS within 1 year was >0.7 SDS for 10 subjects and >0.5 SDS for 3 
      subjects. The mean IGF-I SDS at the start of the study was -0.70 (+/-1.07), which 
      increased after 12 months to 1.41 (+/-0.91) (p < 0.05). KS children who received 
      rhGH at a younger age displayed significantly greater increases in height than 
      those who started when they were older. The same was true for both gene mutation 
      KMT2D versus KDM6A and for GH deficiency versus non-GH deficiency KS children (p 
      < 0.05). Throughout the course of rhGH treatment, the subjects' body proportions 
      remained normal. CONCLUSIONS: All participants experienced catch-up growth during 
      the year of rhGH treatment, but without an influence on body proportions.
CI  - (c) 2017 S. Karger AG, Basel.
FAU - Schott, Dina A
AU  - Schott DA
AD  - Department of Paediatrics, Zuyderland Medical Centre, Heerlen, the Netherlands.
FAU - Gerver, Willem J M
AU  - Gerver WJM
AD  - Department of Paediatrics Endocrinology, Maastricht UMC+, Maastricht, the 
      Netherlands.
FAU - Stumpel, Constance T R M
AU  - Stumpel CTRM
AD  - Department of Clinical Genetics and GROW - School for Oncology and Developmental 
      Biology, Maastricht UMC+, Maastricht, the Netherlands.
LA  - eng
PT  - Journal Article
DEP - 20170809
PL  - Switzerland
TA  - Horm Res Paediatr
JT  - Hormone research in paediatrics
JID - 101525157
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (KMT2D protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 12629-01-5 (Human Growth Hormone)
RN  - EC 1.14.11.- (Histone Demethylases)
RN  - EC 1.14.11.- (KDM6A protein, human)
RN  - Kabuki syndrome
SB  - IM
MH  - Abnormalities, Multiple/*drug therapy/genetics
MH  - Child
MH  - Child, Preschool
MH  - DNA-Binding Proteins/genetics
MH  - Dwarfism, Pituitary/*drug therapy/genetics
MH  - Face/*abnormalities
MH  - Female
MH  - Hematologic Diseases/*drug therapy/genetics
MH  - Histone Demethylases/genetics
MH  - *Hormone Replacement Therapy
MH  - Human Growth Hormone/*therapeutic use
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Neoplasm Proteins/genetics
MH  - Nuclear Proteins/genetics
MH  - Treatment Outcome
MH  - Vestibular Diseases/*drug therapy/genetics
OTO - NOTNLM
OT  - Body proportions
OT  - Catch-up growth
OT  - Growth hormone treatment
OT  - Height growth
OT  - Insulin-like growth factor
OT  - Kabuki syndrome
EDAT- 2017/08/10 06:00
MHDA- 2018/06/09 06:00
CRDT- 2017/08/10 06:00
PHST- 2017/04/10 00:00 [received]
PHST- 2017/07/10 00:00 [accepted]
PHST- 2017/08/10 06:00 [pubmed]
PHST- 2018/06/09 06:00 [medline]
PHST- 2017/08/10 06:00 [entrez]
AID - 000479368 [pii]
AID - 10.1159/000479368 [doi]
PST - ppublish
SO  - Horm Res Paediatr. 2017;88(3-4):258-264. doi: 10.1159/000479368. Epub 2017 Aug 9.