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Case Reports
. 2019 Sep;24(3):207-211.
doi: 10.6065/apem.2019.24.3.207. Epub 2019 Sep 30.

Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature

Sun Kim  1 , Yeong Seok Lee  1 , Dong Hyun Kim  1 , Aram Yang  1 , Tack Lee  2 , Seun Deuk Hwang  3 , Dae Gyu Kwon  4 , Ji Eun Lee  1
Affiliations
Case Reports

Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature

Sun Kim et al. Ann Pediatr Endocrinol Metab. 2019 Sep.

Abstract

Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations.

Keywords: Child; Mayer Rokitansky-Küster-Hauser anomaly; Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association; Mullerian aplasia.

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Figures

Fig. 1.
Fig. 1.
Image showing external ear atresia (A), short neck and facial asymmetry (B).
Fig. 2.
Fig. 2.
X-ray C-spine showed a bony fusion on C2-3, C4 vertebrae (arrow) (A) and scoliosis of L-spine (arrowhead) (B).
Fig. 3.
Fig. 3.
Abdominal computed tomography showed a single dysplastic kidney (arrow) (A) and uterine aplasia (arrowhead) (B).
Fig. 4.
Fig. 4.
Estimated glomerular filtration rate (eGFR) of our patient. It declines gradually during follow-up period.
Fig. 5.
Fig. 5.
Growth curve of our patient. It shows extreme short stature with significant catch-down growth during follow-up period.
See this image and copyright information in PMC

References

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