46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?
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Date
2007
Journal Title
Journal ISSN
Volume Title
Publisher
FREUND PUBLISHING HOUSE LTD
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Mullerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported.
Description
Keywords
XX maleness, 21-hydroxylase deficiency, twins
Journal or Series
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
WoS Q Value
Q3
Scopus Q Value
Q2
Volume
20
Issue
6
