A RARE CASE WITH SEX DEVELOPMENTAL DISORDER

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HASHEMI DEHKORDI E.; SALEK M.; HASHEMIPOUR MAHIN; MOADAB M.H.

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Journal Paper

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Journal: Journal of Isfahan Medical School Year:2010 | Volume:28 | Issue:104 Page(s): 57-62

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Information Journal Paper

Title

A RARE CASE WITH SEX DEVELOPMENTAL DISORDER

Author(s)

HASHEMI DEHKORDI E. | SALEK M. | HASHEMIPOUR MAHIN | MOADAB M.H. | Issue Writer Certificate

Keywords

DISORDER OF SEX DEVELOPMENTQ3

AMBIGUOUS GENITALIAQ2

FACIAL DYSMORFISMQ3

49Q3

XXXXY SYNDROMEQ3

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.

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APA: Copy

HASHEMI DEHKORDI, E., SALEK, M., HASHEMIPOUR, MAHIN, & MOADAB, M.H.. (2010). A RARE CASE WITH SEX DEVELOPMENTAL DISORDER. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), 28(104), 57-62. SID. https://sid.ir/paper/50678/en

Vancouver: Copy

HASHEMI DEHKORDI E., SALEK M., HASHEMIPOUR MAHIN, MOADAB M.H.. A RARE CASE WITH SEX DEVELOPMENTAL DISORDER. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)[Internet]. 2010;28(104):57-62. Available from: https://sid.ir/paper/50678/en

IEEE: Copy

E. HASHEMI DEHKORDI, M. SALEK, MAHIN HASHEMIPOUR, and M.H. MOADAB, “A RARE CASE WITH SEX DEVELOPMENTAL DISORDER,” JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), vol. 28, no. 104, pp. 57–62, 2010, [Online]. Available: https://sid.ir/paper/50678/en

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