ECEESPE2025 Poster Presentations Growth Axis and Syndromes (91 abstracts)
Unraveling the genetic basis of short stature in pediatric patients: a whole exome sequencing approach
Yoo-Mi Kim 1 , 2 , Han Hyuk Lim 2 , Eunhee Kim 1 , Geena Kim 1 , Min-Ji Kim 1 , Hyejin So 1 , Byoung Kook Lee 1 , Yoowon Kwon 1 , Jeesu Min 1 & Young Mi Yoon 1
1Chungnam National University Sejong Hospital, College of Medicine, Chungnam National University, Pediatrics, Sejong, South Korea; 2College of Medicine, Chungnam National University, Daejeon, South Korea
JOINT2053
Background: Short stature is a common clinical concern in pediatric endocrinology, and while growth hormone (GH) deficiency is a well-established cause, genetic factors also play a crucial role. This study aimed to investigate the genetic etiology of short stature using whole exome sequencing (WES) in a pediatric population.
Methods: We retrospectively reviewed pediatric patients who underwent WES for clinical diagnosis at Chungnam National University Sejong Hospital between March 2022 and October 2024. A total of 133 patients (52 females and 81 males) underwent WES due to developmental delay, short stature, congenital anomalies, or other suspected genetic conditions. Among them, we selected patients who presented with short stature and analyzed their genetic findings and clinical characteristics.
Results: Thirty-eight patients underwent WES for short stature. Two patients were diagnosed with GH deficiency, while 36 had normal GH provocation test Results All female patients had normal karyotyping. Five patients (13. 2%) were born small for gestational age. Developmental delay was observed in 11 patients (28. 9%). Overall, congenital anomalies were observed in 18 patients (47. 4%) including congenital heart disease, hernia, congenital cataract, microotia, hearing defect, and skeletal deformity. A genetic cause was identified in 11 patients (28. 9%, 11/38). The detected syndromes included KBG syndrome, Diets-Jengmans syndrome, Okur-Chung neurodevelopmental syndrome, Rauch-Steindl syndrome, Noonan syndrome, Verheij syndrome, intellectual disability-hypotonic facies syndrome, X-linked, X-linked syndromic intellectual developmental disorder, Cabezas type, autosomal recessive deafness 8/10, developmental and epileptic encephalopathy 42, and 6q deletion syndrome.
Conclusion: Short stature in pediatric patients serves as a strong indicator for genetic evaluation. WES effectively identified genetic etiologies in nearly one-third of the patients, highlighting its utility in diagnosing underlying genetic conditions in this population.
Volume 110
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Endocrine Abstracts
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