IMPE2023 ePoster Presentations Growth and Syndromes (12 abstracts)
Ring Chromosome 17 Syndrome and its Growth Hormone Response: A Case Report
Gustavo Tempone Cardoso Penna 1 , Gabriela de Rezende Lelot 1 , Ana Luiza de Rezende Lelot 2 , Juliana Greghi Hernandez 2 , Carolina Costa Figueiredo 2 , Nara Michelle de Araújo Evangelista 2 , Vânia de Fátima Tonetto Fernandes 2 & Guido de Paula Colares Neto 1
1Centro Universitário São Camilo, São Paulo, Brazil. 2Hospital Infantil Darcy Vargas, São Paulo, Brazil
Introduction: Ring chromosome 17 syndrome has a variable phenotype depending on the number of genes lost, gene regulation, and mosaicism degree.
Case Report: Scholar, male, presents typical ring chromosome 17 syndrome characteristics, without Miller-Dicker’s critical region involvement, with short stature, moderate left conductive deafness, left kidney hypoplasia, seizures, abdomen malformations, that was confirmed via G band karyotype (46 X.Y. r (17) (p13q25)). Due to severe short stature (stature Z score - 5.64) and slow growth velocity, the somatropin treatment was started with slight stature Z score improvement (Z -5.23).
Discussion: D.N.A. breakage in subtelomeric regions is the leading theory to explain the formation of a ring in chromosome 17. The syndrome’s phenotype depends on the genes involved, telomere shortening or deletion, telomere position effect (TPE), and gene expression regulation. Comorbidities such as left kidney hypoplasia, seizures, and chronic medication contribute significantly to the short stature, and somatropin treatment allowed a slight height increase.
Conclusion: In the ring chromosome 17 syndrome, somatropin benefits are still unclear, and clinical attendance allows for adequate treatment and life quality improvements for those with such conditions.
Article tools
My recent searches
My recently viewed abstracts
Authors
IMPE Abstracts
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more