BACKGROUND/AIMS: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. METHODS: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed. RESULTS: Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels. CONCLUSIONS: The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.
BACKGROUND/AIMS: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. METHODS: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed. RESULTS: Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels. CONCLUSIONS: The utility of performing GH stimulation tests on Kabuki syndromechildren as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.
Authors: Jill A Fahrner; Wan-Ying Lin; Ryan C Riddle; Leandros Boukas; Valerie B DeLeon; Sheetal Chopra; Susan E Lad; Teresa Romeo Luperchio; Kasper D Hansen; Hans T Bjornsson Journal: JCI Insight Date: 2019-10-17
Authors: Francesca Di Candia; Paolo Fontana; Pamela Paglia; Mariateresa Falco; Carmen Rosano; Carmelo Piscopo; Gerarda Cappuccio; Maria Anna Siano; Daniele De Brasi; Claudia Mandato; Ilaria De Maggio; Gabriella Maria Squeo; Matteo Della Monica; Gioacchino Scarano; Fortunato Lonardo; Pietro Strisciuglio; Giuseppe Merla; Daniela Melis Journal: Eur J Pediatr Date: 2021-07-07 Impact factor: 3.183