Literature DB >> 24597293

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.

Lauren W Roth1, Ruben Alvero2.   

Abstract

BACKGROUND: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type I is a rare disorder that causes a recognizable pattern of eye abnormalities and is associated with premature ovarian insufficiency. There is no data to guide the treatment of these patients when presenting with infertility. CASE: A 30-year-old, nulligravid woman with premature ovarian insufficiency associated with BPES type I presented to care secondary to a desire to conceive. Ovarian stimulation with gonadotropins was performed, and the patient conceived and delivered viable twins.
CONCLUSION: It is not known whether premature ovarian insufficiency associated with BPES type I follows the same clinical course as idiopathic premature ovarian insufficiency. In patients with BPES type I who present with infertility, ovarian stimulation with gonadotropins may be a reasonable therapeutic option.

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Year:  2014        PMID: 24597293

Source DB:  PubMed          Journal:  J Reprod Med        ISSN: 0024-7758            Impact factor:   0.142


  7 in total

1.  Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Authors:  S Nuovo; M Passeri; E Di Benedetto; M Calanchini; I Meldolesi; M C Di Giacomo; D Petruzzi; M R Piemontese; L Zelante; F Sangiuolo; G Novelli; A Fabbri; F Brancati
Journal:  J Endocrinol Invest       Date:  2015-06-23       Impact factor: 4.256

Review 2.  Mouse models for the analysis of gonadotropin secretion and action.

Authors:  Sara Babcock Gilbert; Allyson K Roof; T Rajendra Kumar
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2018-03-31       Impact factor: 4.690

Review 3.  Genetics of primary ovarian insufficiency: a review.

Authors:  Cristina Fortuño; Elena Labarta
Journal:  J Assist Reprod Genet       Date:  2014-09-18       Impact factor: 3.412

Review 4.  Ocular changes during pregnancy.

Authors:  Mohammad Naderan
Journal:  J Curr Ophthalmol       Date:  2018-01-03

5.  Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series.

Authors:  Marissa L Bonus; Rachel Pothast; Julie D Lamb; Eve C Feinberg; Lia A Bernardi
Journal:  F S Rep       Date:  2021-05-27

Review 6.  Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature.

Authors:  Yiqi Yu; Mengxia Ji; Weihai Xu; Ling Zhang; Ming Qi; Jing Shu
Journal:  J Ovarian Res       Date:  2021-10-28       Impact factor: 4.234

Review 7.  The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.

Authors:  Cécile Méjécase; Chandni Nigam; Mariya Moosajee; John C Bladen
Journal:  Genes (Basel)       Date:  2021-03-04       Impact factor: 4.096

  7 in total

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