Year: 2024 | Month: January-March | Volume: 9 | Issue: 1 | Pages: 282-287
DOI: https://doi.org/10.52403/ijshr.20240138
Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case
Zineb Ait Si Ali1, Meryam Alahyane1, Sana Rafi1, Ghizlane El Mghari1, Nawal EL Ansari1
1Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition Cadi Ayyad University, Mohammed VI University Hospital, Marrakech, Morocco
Corresponding Author: Zineb Ait Si Ali
ABSTRACT
Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits.
Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis.
Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development.
Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis