Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205

Reference

Title : Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency - Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
Author(s) : Sayol-Torres L , Valenzuela MI , Tomasini R , Fernandez-Alvarez P , Clemente M , Yeste D
Ref : J Clin Res Pediatr Endocrinol , 15 :205 , 2023
Abstract :

Prolyl endopeptidase-like (PREPL) deficiency (MIM#616224) is a rare congenital disorder characterised by neonatal hypotonia and feeding difficulties, growth hormone (GH) deficiency and hypergonadotropic hypogonadism. This syndrome is an autosomal recessive disease resulting from mutations in the PREPL gene (MIM#609557). Herein we report a 7-year-old female patient with biallelic mutations in PREPL (c.1528C>T in one allele and whole gene deletion in the other) with early growth impairment in infancy. GH deficiency was confirmed at 20 months of life. Recombinant GH treatment was introduced with a good response. Her clinical features were similar to those of previously reported cases. The description of new patients with PREPL deficiency syndrome is essential to better delineate the phenotypic and genotypic spectrum of the disease.

PubMedSearch : Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
PubMedID: 34693706
Gene_locus related to this paper: human-PREPL

Citations formats

Sayol-Torres L, Valenzuela MI, Tomasini R, Fernandez-Alvarez P, Clemente M, Yeste D (2023)
Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency
J Clin Res Pediatr Endocrinol 15 :205

Sayol-Torres L, Valenzuela MI, Tomasini R, Fernandez-Alvarez P, Clemente M, Yeste D (2023)
J Clin Res Pediatr Endocrinol 15 :205