ESPE Abstracts

Wiedemann-Steiner syndrome (WSS) is a rare genetic disease characterized by growth retardation, developmental delay, intellectual disability, facial gestalt, and with or without congenital anomalies. The disease is diagnosed based on suggestive findings and mutation of KMT2A gene. I am presenting 2 cases of WSS including novel mutation of KMT2 A gene. Case1 A 10 years old girl visited the clinic due to short stature. She was 127.2cm (2 percentile, SDS -1.89), 31 kg and bone age was same for the chronologic age. (midparental height 166cm) Growth hormone stimulation test confirmed that she had no growth hormone deficiency. Her puberty already began based on breast budding Tanner stage II. She was started growth hormone due to idiopathic short stature. However, she has intellectual disability (IQ 59), history of feeding difficulty until she was 8 years old. She has widely spaced eyes, downslanted palpebral fissures, thick eyebrows, wide nasal bridge, micrognathia and hairy elbow which her parents does not have. Genetic test results c.5701T>C; p.Trp1901Arg of novel heterozygote mutation of KMT2A gene. Her parents does not have the same mutation. Echocardiography and brain MRI showed no combined anomaly. She is now treated with HGH which seems to have low effect. Case2 A 7 years old boy visited the clinic due to recent rapid growth. He was 121.3cm (44 percentile, SDS -0.58), 22.6kg and bone age was 8.9 years old. The volume of testicles is over 4cc each, no pubic hair. He was diagnosed as central precocious puberty after the gonadotropin-releasing hormone stimulation test result showed 10.07 mIU/mL of peak LH level. He showed developmental delay, widely spaced eyes, downslanted palpebral fissures, thick eyebrows, wide nasal bridge and hairy elbow which his parents does not have. He was treated with methylphenidate due to ADHD. GnRH agonist was started for CPP. The brain MRI was normal. Genetic test results p.Arg1081Ter of known pathogenic mutation of KMT2A gene. He also developed right inguinal hernia which is high prevalence of WSS. WSS is usually known as related with short stature. However, I experience also male central precocious puberty patient. When a short stature patient has feature of developmental delay and facial characteristics, we should rule of not only Coffin-Siris syndrome, Noonan syndrome, Cornelia de Lange syndrome, Rubibstein-Taybi syndrome, Kabuki syndrome but also WSS.