ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 15 Issue : 2 Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2023; 15(2): 205-209 | DOI: 10.4274/jcrpe.galenos.2021.2021.0128

Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

Laura Sayol-Torres1, Maria Irene Valenzuela2, Rosangela Tomasini3, Paula Fernández-Alvarez2, Maria Clemente3, Diego Yeste3
1Hospital Universitari Vall d’Hebron, Department of Pediatrics, Barcelona, Spain
2Hospital Universitari Vall d’Hebron, Department of Molecular and Clinical Genetics, Barcelona, Spain
3Hospital Universitari Vall d’Hebron, Department of Pediatric Endocrinology, Barcelona, Spain

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.

Keywords: Prolyl endopeptidase-like, growth hormone deficiency, genetics

Corresponding Author: Laura Sayol-Torres, Spain
Manuscript Language: English
×
APA
NLM
AMA
MLA
Chicago
Copied!
CITE
LookUs & Online Makale