Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq).

Abstract

A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from both peripheral blood leukocytes and skin fibroblasts were consistent with a 46,X,i(Xq) karyotype. Laparoscopy revealed both uterus and gonads to be absent. Developmental failure of the müllerian system in association with gonadal agenesis in a patient with 46,X,i(Xq) has not been previously reported. The basis for müllerian duct regression in this patient remains unclear. Recommendations for treatment are made.

Statistics

0200040006000'04'06'08'10'12'14'16
Citations per Year

692 Citations

Semantic Scholar estimates that this publication has 692 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Leon1984GonadalAM, title={Gonadal and m{\"{u}llerian duct agenesis in a girl with 46,X,i(Xq).}, author={F D De Leon and J H Hersh and J S Sanfilippo and K N Schikler and F F Yen}, journal={Obstetrics and gynecology}, year={1984}, volume={63 3 Suppl}, pages={81S-83S} }