Abdulmajeed AlSubaihin1, John VanderMeulen2, Kate Harris3, John Duck3, Elizabeth McCready4. 1. Division of Endocrinology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; Department of Pediatrics, Faculty of Medicine, King Saud University Hospital, Riyadh, Saudi Arabia. Electronic address: abdulmajeed.alsubaihin@medportal.ca. 2. Division of Endocrinology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. 3. Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. 4. Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada; Department Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Abstract
BACKGROUND: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. CASE: We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. SUMMARY AND CONCLUSION: Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls.
BACKGROUND: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. CASE: We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. SUMMARY AND CONCLUSION: Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls.
Authors: Varvara Ermioni Triantafyllidi; Despoina Mavrogianni; Andreas Kalampalikis; Michael Litos; Stella Roidi; Lina Michala Journal: Children (Basel) Date: 2022-06-27