46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?
Küçük Resim Yok
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
FREUND PUBLISHING HOUSE LTD
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
XX maleness, 21-hydroxylase deficiency, twins
Kaynak
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
20
Sayı
6
