ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 Year: 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Prolyl Endopeptidase-like (PREPL) Deficiency Associated with Growth Hormone Deficiency: Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-04274 | DOI: 10.4274/jcrpe.galenos.2021.2021.0128

Prolyl Endopeptidase-like (PREPL) Deficiency Associated with Growth Hormone Deficiency: Case Report

Laura Sayol-torres1, Maria Irene Valenzuela2, Rosangela Tomasini3, Paula Fernández-alvarez2, Maria Clemente3, Diego Yeste3
1Hospital Universitari Vall d'Hebron Ringgold standard institution - Pediatrics, Barcelona, Catalunya, Spain
2Hospital Universitari Vall d'Hebron Ringgold standard institution - Molecular and clinical genetics, Barcelona, Barcelona, Spain
3Hospital Universitari Vall d'Hebron Ringgold standard institution - Pediatric Endocrinology, Barcelona, Catalunya, 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 a whole gene deletion in the other) with early growth impairment in infancy. Growth hormone deficiency was confirmed at 20 months of life. Recombinant growth hormone 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
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