Affiliation:
1. Children's Hospital of Zhengzhou University
Abstract
Abstract
Background
The protein product encoded by SLC25A13 gene is citrin, and its deficiency can cause neonatal intrahepatic cholestasis, which is more common in Asian countries. Turner syndrome is the only viable monosomy syndrome in humans and occurs in approximately 1:2500 female live births. Neonatal intrahepatic cholestasis caused by citrin deficiency combined with Turner syndrome is rare. We report the clinical features of this patient.
Case presentation:
The patient in this case was a girl aged 2 years and 8 months. Blood tandem mass spectrometry and urine organic acid analysis highly suspected "citrin deficiency". Medical whole exon analysis showed citrin deficiency and Turner syndrome. At the age of 5 months, his weight was 5.4kg and length 55cm (< Physical examination at the age of 2 years and 6 months showed a height of 85cm and weight of 13kg.
Conclusions
We experienced a case of NICCD in a patient with Turner syndrome. This case illustrates that short stature was the prominent manifestation of Citrin deficiency complicated with Turner syndrome.
Publisher
Research Square Platform LLC
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