Michael P Steinkampf1, Sejal P Dharia, Ryan D Dickerson. 1. Department of Obsterics and Gynacology, Division of Reproductive Endocrinology and Infertility, University of Alabama at Birmingham, Birmingham, Alabama 35249-7333, USA. msteinkampf@uabmc.edu
Abstract
OBJECTIVE: To report the first case of monozygotic twins with discordant congenital anomalies. DESIGN: Descriptive case report. SETTING: University hospital. PATIENT(S): A 20-year woman with complete vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) and right renal agenesis presented for creation of a neovagina. She had a monozygous twin confirmed by DNA testing using short tandem repeat (STR) loci; the twin had normal mullerian/mesonephric development but isolated bilateral tibial longitudinal deficiency. INTERVENTION(S): The complete history, physical, and laboratory data of both the patient and her twin. Also, operative laparoscopy with creation of a neovagina in the patient. MAIN OUTCOME MEASURE(S): Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity. RESULT(S): The surgical resection of the bilateral uterine remnants, creation of a neovagina in the patient, and the demonstration of monozygosity with her twin with bilateral tibial longitudinal deficiency. CONCLUSION(S): This case report suggests a link between developmental abnormalities of the genital and skeletal system.
OBJECTIVE: To report the first case of monozygotic twins with discordant congenital anomalies. DESIGN: Descriptive case report. SETTING: University hospital. PATIENT(S): A 20-year woman with complete vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) and right renal agenesis presented for creation of a neovagina. She had a monozygous twin confirmed by DNA testing using short tandem repeat (STR) loci; the twin had normal mullerian/mesonephric development but isolated bilateral tibial longitudinal deficiency. INTERVENTION(S): The complete history, physical, and laboratory data of both the patient and her twin. Also, operative laparoscopy with creation of a neovagina in the patient. MAIN OUTCOME MEASURE(S): Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity. RESULT(S): The surgical resection of the bilateral uterine remnants, creation of a neovagina in the patient, and the demonstration of monozygosity with her twin with bilateral tibial longitudinal deficiency. CONCLUSION(S): This case report suggests a link between developmental abnormalities of the genital and skeletal system.
Authors: Varvara Ermioni Triantafyllidi; Despoina Mavrogianni; Andreas Kalampalikis; Michael Litos; Stella Roidi; Lina Michala Journal: Children (Basel) Date: 2022-06-27
Authors: Rebecca Buchert; Elisabeth Schenk; Thomas Hentrich; Nico Weber; Katharina Rall; Marc Sturm; Oliver Kohlbacher; André Koch; Olaf Riess; Sara Y Brucker; Julia M Schulze-Hentrich Journal: J Clin Med Date: 2022-09-23 Impact factor: 4.964