Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia

Y Ohro; Y Suzuki; Y Tsutsumi; T Ogata

doi:10.1111/j.1399-0004.1998.tb03693.x

Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia

Clin Genet. 1998 Jul;54(1):52-5. doi: 10.1111/j.1399-0004.1998.tb03693.x.

Authors

Y Ohro¹, Y Suzuki, Y Tsutsumi, T Ogata

Affiliation

¹ Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan.

PMID: 9727740
DOI: 10.1111/j.1399-0004.1998.tb03693.x

Abstract

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 Temoçin et al. (Acta Paediatr Jpn 1997: 39: 631-633), and may suggest a developmental link between genital region and upper limbs.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Arm / abnormalities
Ectromelia / genetics*
Female
Genitalia, Female / anatomy & histology*
Genotype
Gonadal Dysgenesis, 46,XY / genetics
Humans
Infant, Newborn
Uterus / abnormalities*