ESPE Abstracts

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...