AUTHOR=Gad Hoda , Mohammed Idris , Dauleh Hajar , Pasha Maheen , Al-Barazenji Tara , Hussain Khalid , Malik Rayaz A. 

TITLE=Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide

JOURNAL=Frontiers in Endocrinology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1385463

DOI=10.3389/fendo.2024.1385463

ISSN=1664-2392

ABSTRACT=<p>Melanocortin 4 receptor (<italic>MC4R</italic>) mutations are the commonest cause of monogenic obesity through dysregulation of neuronal pathways in the hypothalamus and prefrontal cortex that regulate hunger and satiety. <italic>MC4R</italic> also regulates neuropathic pain pathways via JNK signaling after nerve injury. We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A&gt;G, p.Ille170Val in the <italic>MC4R</italic> gene. Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile. However, there was evidence of nerve regeneration with an increase in corneal nerve fiber density (CNFD) [child A (13.9%), child B (14.7%)], corneal nerve branch density (CNBD) [child A (110.2%), child B (58.7%)] and corneal nerve fiber length (CNFL) [child A (21.5%), child B (44.0%)].</p>