A Rare Pediatric Case of Twins with 46XY Karyotype, Swyer Syndrome, Associated with Intraventricular Hemorrhage (IVH) and Post-hemorrhagic Hydrocephalus (PHH): A Case Report and Literature Review

Abstract

Objective:   The aim was to identify the underlying causes of phenotypic sex differences and potential difficulties that determine the twins' 46XY chromosomes.

Case Presentation:  A 37-year-old woman who delivered twin premature neonates of  29 and 30 weeks of gestation. At the Morozoskaya Children Hospital in Moscow, Russia. She had a history of hereditary thrombophilia (heterozygous Leiden mutation). Microintestinal growth factor (MGF), intrauterine growth factor (IGF), and fetal growth factor (FGF) all showed abnormalities between 24 and 25 weeks. The neurosonography showed male and female twins diagnosed with a confirmed fetal karyotype 46, XY; Swyer syndrome, with Stage 3 intraventricular hemorrhage, obstructive post-hemorrhagic hydrocephalus, and multifocal structural epilepsy with multicystic transformation of the brain hemispheres,   movement and tone dysfunction. The management was follow-up with insertion of the extracranial ventricular shunt. After a few weeks, the VP subgaleal shunt was relocated, and the baby was evaluated and monitored by UCI.

Conclusion:  In this case, it is a rare condition that was not only accompanied by intraventricular hemorrhage and post-hemorrhagic hemorrhage in the twin prenatally, which were controlled, but the female neonate passed away after all the efforts by the colleagues, while the 46XY male twin survived.