Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism.

Abstract:

OBJECTIVE:To describe a woman with blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism. DESIGN:Case report. SETTING:University medical center. PATIENT(S):One 25-year-old woman. INTERVENTION(S):Pedigree, hormone assays, and donor embryo transfer. MAIN OUTCOME MEASURE(S):Pregnancy. RESULT(S):The patient with hypergonadtropic hypogonadism obtained an ongoing pregnancy after donor embryo transfer. CONCLUSION(S):Blepharophimosis-ptosis-epicanthus inversus syndrome is associated with evidence of premature ovarian failure. The syndrome is a sex-limited, autosomal dominant trait that causes selective loss of ovarian function in affected females. This report emphasizes the importance of a thorough family history and pedigree analysis in the evaluation of a patient with hypergonadotropic hypogonadism.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Siewert AL,Stein Q,Flanagan J,Hansen KA

doi

10.1016/j.fertnstert.2008.07.1763

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

2016.e11-2

issue

5

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(08)03286-X

journal_volume

90

pub_type

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