Premium
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia
Author(s) -
Ohro Yoichiro,
Suzuki Yoshimi,
Tsutsumi Yoshiyuki,
Ogata Tsutomu
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03693.x
Subject(s) - external genitalia , uterus , medicine , gynecology , anatomy , sex organ , biology , endocrinology , genetics
This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temocin et al. (Acta Paediatr Jpn 1997: 39: 631–633), and may suggest a developmental link between genital region and upper limbs.