ESPE Abstracts

Context: Gonadotropin-releasing hormone analogues (GnRHa) and recombinant human growth hormone (rhGH) have been widely used to treat idiopathic central precocious puberty (ICPP)，yet the treatment benefit in girls between 8 and 10 years is equivocal.Objective: This study aimto evaluate the effects of GnRHa combined with rhGH on final adult height (FAH) and to identify the factors influencing FAH.<p class="abste...

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...