A Rare Case With Sex Developmental Disorder

A Rare Case With Sex Developmental Disorder

Dehkordi EH¹ ; Salek M² ; Hashemipour M¹ ; Moaddab MH¹

Show Affiliations

1. Department of Pediatric Endocrinology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2. Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Journal of Isfahan Medical School Published:2010

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.

Experts (# of related papers)

Mohammad Amin Tabatabaiefar (1)

Style	Citing Format
MLA	Dehkordi EH, et al.. "A Rare Case With Sex Developmental Disorder." Journal of Isfahan Medical School, vol. 28, no. 104, 2010, pp. 57-62.
APA	Dehkordi EH, Salek M, Hashemipour M, Moaddab MH (2010). A Rare Case With Sex Developmental Disorder. Journal of Isfahan Medical School, 28(104), 57-62.
Chicago	Dehkordi EH, Salek M, Hashemipour M, Moaddab MH. "A Rare Case With Sex Developmental Disorder." Journal of Isfahan Medical School 28, no. 104 (2010): 57-62.
Harvard	Dehkordi EH et al. (2010) 'A Rare Case With Sex Developmental Disorder', Journal of Isfahan Medical School, 28(104), pp. 57-62.
Vancouver	Dehkordi EH, Salek M, Hashemipour M, Moaddab MH. A Rare Case With Sex Developmental Disorder. Journal of Isfahan Medical School. 2010;28(104):57-62.
BibTex	@article{ author = {Dehkordi EH and Salek M and Hashemipour M and Moaddab MH}, title = {A Rare Case With Sex Developmental Disorder}, journal = {Journal of Isfahan Medical School}, volume = {28}, number = {104}, pages = {57-62}, year = {2010} }
RIS	TY - JOUR AU - Dehkordi EH AU - Salek M AU - Hashemipour M AU - Moaddab MH TI - A Rare Case With Sex Developmental Disorder JO - Journal of Isfahan Medical School VL - 28 IS - 104 SP - 57 EP - 62 PY - 2010 ER -

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