Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.

Abstract

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by a broad phenotypic spectrum, including facial dysmorphism, hypertrichosis, hypotonia, short stature, and developmental delay. Mutations in the lysine (K)-specific methyltransferase 2A (KMT2A) gene are known to cause WSS. A 2 year-old boy with a short stature visited our pediatric endocrinology clinic for a diagnostic examination. In addition to his short stature, he had other symptoms characteristic of WSS including dysmorphic features and developmental delay. Whole-exome sequencing was performed in order to diagnose any underlying genetic condition; the test detected the presence of the mutant variant of KMT2A:c.731T>G(p.Leu244*). Since the patient showed a decreased growth velocity after 18 months of age, a growth hormone provocation test was performed to check for growth hormone (GH) deficiency. The patient's peak GH level was found to be 6.96 ng/mL and recombinant human GH treatment was started. This case of WSS along with growth hormone deficiency (GHD) in a pediatric patient is the first report of its kind in Korea, to the best of our knowledge. WSS should be considered as a possibility in pediatric patients with short stature, especially in the presence of additional clinical symptoms, such as dysmorphic features and developmental delay.