Merit Research Journal of Medicine and Medical Sciences (ISSN: 2354-323X) Vol. 9(3) pp. 200-202, March, 2021 Available online http://www.meritresearchjournals.org/mms/index.htm Copyright © 2021 Author(s) retain the copyright of this article Case Report Bilateral anophthalmia and clitoris and labia minora agenesis. A case report Viorica Radoi 1,2 , Delia Ileana Sabau, Radu Ursu 1,2 , Laurentiu Bohiltea 1,2 , Oana Toader 1,2 , Lucian Pop 2 Abstract 1 “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania 2 “Alessandrescu-Rusescu” National Institute *Corresponding Author Email: drdeliasabau@hotmail.com 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 INTRODUCTION Complete bilateral anophthalmia is the congenital absence of both eyes. It is a rare disease often associated with other malformations such as urogenital or digestive. Ambiguous genitalia is the condition in which the patient’s genitalia are incompletely developed or the baby has characteristics of both sexes. Anophthalmia has an estimated rate of incidence of around 1 in 20 000 live births, clitoris and labia minora agenesis are rare conditions, with only few cases reported in medical literature. SOX2 gene is an intronless gene that encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The single exon gene is also expressed in the prospective neural plate, peripheral nervous system, nasal and otic placodes, bronchi, endoderm of the esophagus, and the germ cells of both sexes where it promotes normal sexual development. The product of this gene is required for stem-cell maintenance in the central