P347: Dual diagnosis of Klinefelter syndrome and Rett syndrome in a male patient: A rare co-occurrence with diagnostic and phenotypic implications
Abstract
This patient is a candidate for trofinetide, a treatment for Rett syndrome shown to provide subtle behavioral benefits. However, therapy was deferred because of poor weight gain and concern for gastrointestinal side effects. He was referred to neurogenetics and ophthalmology. Endocrinology referral was made for bone-health assessment and surveillance, and cardiology for annual EKG due to increased risk of prolonged QT. A sleep study was ordered to evaluate for sleep apnea, which can occur in Rett syndrome.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Sexual Differentiation and Disorders
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103841–103841
- Publication date
- 1 January 2026
- Language
- EN