Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.

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.

• Authors: Michael P Steinkampf, Sejal P Dharia, Ryan D Dickerson
• Journal: Fertility and sterility (Fertil Steril) Vol. 80 Issue 3 Pg. 643-5 (Sep 2003) ISSN: 0015-0282 [Print] United States
• PMID: 12969715 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Artificial Limbs
• Diseases in Twins (genetics)
• Female
• Humans
• Surgically-Created Structures
• Tibia (abnormalities, surgery)
• Twins, Monozygotic (genetics)
• Vagina (abnormalities, surgery)