J Pediatr Adolesc Gynecol (2002) 15:231-233 © 2002 North American Society for Pediatric and Adolescent Gynecology 1083-3188/02/$22.00 Published by Elsevier Science Inc. PII S1083-3188(02)00161-4 Case Report Tetralogy of Fallot, Imperforate Anus, and Müllerian, Renal, and Cervical Spine (MURCS) Anomalies in a 15-Year-Old Girl Melissa L Gilliam, MD, MPH and Lee P. Shulman, MD University of Illinois at Chicago, Chicago, Illinois, USA Abstract. Study Objective: To examine the etiology of MURCs anomalies and the management of a patient with these anomalies as well as cardiac and anorectal abnormali- ties causing primary amenorrhea and abdominal pain. Design: Case study. Result: Relief of pelvic pain following GnRH agonist therapy and continuous oral contraceptives. Conclusion: MURCS (Müllerian, Renal, Cervical Spine) is a well-described grouping of multi-organ, nonle- thal abnormalities that are infrequently detected in women with menstrual abnormalities. The association of MURCS with cardiac and anorectal abnormalities may be one of co- incidence or may indicate that the abnormalities share com- mon genetic or environmental (cellular or microbiologic) etiologies. Key Words. Müllerian anomalies—Primary amenorrhea— MURCS—Tetralogy of Fallot—Imperforate anus Introduction Abnormal development of the müllerian duct struc- tures is a common occurrence. In 1979, Duncan et al proposed that when the müllerian structures fail to de- velop in conjunction with abnormalities of the urinary tract and skeletal anomalies, this particular group of findings be designated the MURCS (Müllerian, Renal, Cervical Spine) association. Duncan reviewed 30 cases in which the most common findings were uter- ine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies, and short stature. 1 We present a case of MURCS association in conjunction with te- tralogy of Fallot and imperforate anus and discuss the management of such a patient. Materials and Methods A 15-yr-old African-American female with a history of tetralogy of Fallot, imperforate anus, and anoma- lous ureters presented to the pediatric and adolescent gynecology service at the University of Illinois at Chi- cago in October of 2000, with the complaint of pri- mary amenorrhea and abdominal pain. Her cardiac, anorectal, and ureteral anomalies were repaired in in- fancy and childhood. The patient had not had any gas- trointestinal complaints since infancy. In the past year, the patient had four hospital admissions for severe ab- dominal pain associated with anxiety, palpitations, and chest tightness. The patient initially experienced cyclical episodes of pelvic pain, but over the past few months, her pain had become continuous and was not relieved by acetaminophen. Her past medical and surgical histories are signifi- cant for the repair of her imperforate anus, which re- quired colostomy formation and subsequent take-down operation, repair of anomalous ureters, and repair of the tetralogy of Fallot. The patient was the product of an uncomplicated full-term pregnancy. She is the oldest of three children; her siblings and parents are healthy, without medical problems. There is no history of con- sanguinity. On physical exam, the patient was 62 cm and weighed 43.54 kg. She was a phenotypically normal young female with apparently normal devel- opment of secondary sexual characteristics. Office ex- amination revealed normal well-estrogenized, external female genitalia, and the presence of pubic hair in a mature adult distribution. There was no evidence of a bulging hymen; however, a cotton swab could only be inserted 2 cm into the vagina. Endocrinologic studies are as follows: FSH 1.4 mIu/mL, LH 3.0 mIu/mL, pro- lactin 6 pg/mL, and estradiol 85.2 pg/mL. Address reprint requests to: Melissa Gilliam, MD, MPH, Depart- ment of Obstetrics and Gynecology, University of Illinois at Chicago, 820 South Wood Street, MC 808, Chicago, Illinois 60612; E-mail: mgilli2@uic.edu