AUTHOR=Chen Congli , Wu Jin , Liu Ying 

TITLE=Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1068718

DOI=10.3389/fped.2023.1068718

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>Variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver–Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.</p></sec><sec><title>Case presentation</title><p>A 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A &gt; G and c.163(exon2)G &gt; A.</p></sec><sec><title>Conclusion</title><p>The MBTPS1 gene c.1589(exon12)A &gt; G and c.163(exon2)G &gt; A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis.</p></sec>