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March 2021 Vol. 9 No.3

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Merit Research Journal of Medicine and Medical Sciences (ISSN: 2354-323X) Vol. 9(3) pp. 200-202, March, 2021 

Copyright © 2021 Author(s) retain the copyright of this article
DOI: 10.5281/zenodo.4627810

Case Report

Bilateral anophthalmia and clitoris and labia minora agenesis. A case report


Viorica Radoi1,2, Delia Ileana Sabau, Radu Ursu1,2, Laurentiu Bohiltea1,2, Oana Toader1,2, Lucian Pop2


1“Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
2“Alessandrescu-Rusescu” National Institute

*Corresponding Author Email: drdeliasabau@hotmail.com

Received: 19 February 2021  I  Accepted: 17 March 2021  I  Published: 22 March 2021  I  Article ID: MRJMMS-21-024
Copyright © 2021 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0.




Complete bilateral anophthalmia is the congenital absence of both eyes. Ambiguous genitalia is the condition in which the patient’s genitalia are incompletely developed or the baby has characteristics of both sexes. Pathogenic variants inSOX2 gene are associated with syndromic microphthalmia, type 3 (OMIM: 206900), with autosomal dominant inheritance pattern and with AEG syndrome (OMIM 600992). We report the case of a new born baby girl with bilateral anophthalmia and clitoris and labia minora agenesis, which originated from in vitro fertilization (IVF). Sequential genetic testing, QF-PCR, microarray and WES have been performed and DNA was obtained according to standard procedures. Whole exome sequencing (WES) identified a mutation in SOX2 (OMIM: 184429) gene, a heterozygous pathogenic variant, NM_003106.4: c.371dupA p. (Tyr125Valfs*14), highlighting the importance of this particular gene in embryogenesis, sexualization and the development of the visual function.It explains the clinical diagnosis of the patient. We have concluded that this particular mutation found in the SOX2 gene could be correlated to the pathological findings, although it was not reported before in the clinical databases. Furthermore, a prenatal testing algorithm would be very helpful. Additionally, we want to highlight the importance of a multidisciplinary team when diagnosing and managing the follow-up of a fetus with multiple malformation such as this particular case.

Keywords: Bilateral anophthalmia, Clitoris agenesis, Labia minora agenesis, SOX2, Syndromic












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