Cargando…
Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
Sotos syndrome (SS) is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, precocious puberty (PP) has only been reported...
Autores principales: | Kontbay, Tuğba, Şıklar, Zeynep, Ceylaner, Serdar, Berberoğlu, Merih |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422921/ https://www.ncbi.nlm.nih.gov/pubmed/34013836 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0273 |
Ejemplares similares
-
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
por: Şıklar, Zeynep, et al.
Publicado: (2023) -
Precocious Puberty and Normal Variant Puberty: Definition, etiology, diagnosis and current management
por: Berberoğlu, Merih
Publicado: (2009) -
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
por: Çamtosun, Emine, et al.
Publicado: (2017) -
The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway
por: Şıklar, Zeynep, et al.
Publicado: (2020) -
Hypophyseal Dysfunction and Difficulties in Management of Pediatric Intracranial Germ Cell Tumors
por: İsakoca, Mehmet, et al.
Publicado: (2022)