Document Type : Case Report
Authors
1
Professor of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan
2
Associate Professor of Pediatrics, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan
3
Student of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan
4
Assistant Professor of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan
Abstract
Background:
Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. It consider as a medical emergency and the cases should be evaluate immediately for detection of life threatening conditions and determination of gender.
Case Report:
We report a 50 days old infant with 49,XXXXY syndrome presenting with ambiguous genitalia.
Conclusion:
49,XXXXY syndrome is a rare sex chromosome aneuploidy disorder, which represented with its “classical triad” consists of mental retardation, radioulnar synostosis and hypogonadism.
Key words: Disorder of sex development, Ambiguous genitalia, Facial dysmorfism, 49,xxxxy syndrome.
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