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Year : 2008  |  Volume : 18  |  Issue : 1  |  Page : 73-75
ARCS/AUCS: A rare clinicoradiological presentation


1 Department of Internal Medicine, Christian Medical College and Hospital, Ludhiana - 141 008, Punjab, India
2 Department of Radiology, Christian Medical College and Hospital, Ludhiana - 141 008, Punjab, India
3 Department of Nephrology, Christian Medical College and Hospital, Ludhiana - 141 008, Punjab, India

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Keywords: ARCS; AUCS; genitourinary anomalies; magnetic resonance imaging

How to cite this article:
George P, George U, Pawar B. ARCS/AUCS: A rare clinicoradiological presentation. Indian J Radiol Imaging 2008;18:73-5

How to cite this URL:
George P, George U, Pawar B. ARCS/AUCS: A rare clinicoradiological presentation. Indian J Radiol Imaging [serial online] 2008 [cited 2019 Sep 20];18:73-5. Available from: http://www.ijri.org/text.asp?2008/18/1/73/37049
A rare presentation of ARCS (azoospermia, renal anomalies, cervicothoracic spine dysplasia)/AUCS (azospermia, urogenital anomaly, cervicothoracic spine dysplasia) in a patient of end-stage renal disease is described. ARCS/AUCS is analogous to MURCS (Mullerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia) in females. [1],[2]


   Case Report Top


A 27-year-old man was admitted with vomiting, generalized weakness, anorexia, and weight loss. He had a short neck and stature which, however, did not in any way limit his movements or daily activities. No muscular weakness, paresthesia, or bowel or bladder dysfunction was present. He had an uneventful antenatal, birth, and developmental history. There was no significant family history or of any relevant past illness. Development of secondary sexual features was normal and no erectile dysfunction was noticed. However, the volume of his ejaculate was consistently minimal.

On examination, his height was 162.5 cm and he had a short neck with webbing and Sprengel's deformity. A low hairline with a left auricular tag was seen [Figure - 1]. Lateral bending neck movements were impaired. He was pale and had a blood pressure of 190/110 mmHg. Neurological examination revealed bilateral hearing loss, brisk deep tendon reflexes, and flexor plantar response. Cardiovascular and abdominal examinations were normal. Secondary sexual characteristics were normal, but the testes were soft and mildly reduced in size.

Investigations showed chronic kidney disease, with anemia and severe metabolic acidosis. The kidneys were not visualized on USG, but a single ectopic kidney was seen in the pelvis on subsequent MRI, anterior to the lower lumbar and upper sacral spine [Figure - 2]. The prostate gland and bilateral seminal vesicles were not visualized on transrectal ultrasound (TRUS) and MRI [Figure - 3]. Right and left testicular volumes were 9.7 and 7.7 cm 3 , respectively. MRI of the cervical spine showed atlanto-occipital assimilation, fusion of the C4-C6 vertebrae, with intervertebral disc herniation and spinal cord indentation at the C2-C3 and C3-C4 levels [Figure - 4]. No spinal cord edema was noted. Audiometry showed mild conductive hearing loss. Echocardiography was normal. Testosterone, follicular stimulating hormone, and luteinizing hormone levels, and karyotyping and testicular biopsy were not done at the patient's request.

The patient's spectrum of presenting symptoms, with type II Klippel-Feil (KF) anomaly, conductive hearing loss, renal dysgenesis with end-stage renal disease, and non-visualized prostate and seminal vesicles, was suggestive of a possible MURCS association in a male. A semen analysis to confirm this association showed azoospermia, in one milliliter of ejaculate. ARCS/AUCS was diagnosed. Spinal fusion surgery for stabilization of the cervical spine was advised but refused. He was discharged with a word of caution regarding the need to avoid strenuous activities, trauma, and weight bearing on the neck, and is currently doing well on maintenance hemodialysis.


   Discussion Top


MURCS association is a rare developmental disorder usually seen in female children. It is characterized by congenital aplasia of the uterus and upper vagina, with normal secondary sexual features and karyotype. [3] There are renal (agenesis, ectopia, or horseshoe kidneys), skeletal (KF spine anomaly, scoliosis, or fused vertebrae), and hearing defects. Rarely cardiac and digital anomalies are present. [4] MURCS in males was first described by Wellesly et al . in a patient with KF deformity and unilateral renal agenesis and a hypothesis of Wolffian duct hypoplasia was proposed for the patient's presentation with azoospermia, absent seminal vesicles, and thin vasa deferentia. [5] Thereafter, a few case reports have described MURCS in males, characterized by nonobstructive azoospermia in place of the uterine malformations seen in women. ARCS [1] and AUCS [2] are terms that have been used to describe this association in males.

The Mullerian and Wolffian ducts are the primordia for the development of the female and male reproductive organs, respectively. They coexist in the undifferentiated embryo until differentiation of the genetic sex. The male testicular production of anti-Mullerian hormones and androgens leads to maturation of the Wolffian duct into the vas deferens and seminal vesicles. [6] The blastema of the cervical vertebrae, scapulae, and the genitourinary system have an intimate spatial relationship at the end of the fourth or beginning of the fifth week of fetal life. An alteration in this region can thus cause cervical vertebrae, scapular, and genitourologic changes. [7] Renal abnormalities in KF and ARCS/AUCS association can be explained on this basis. The cause of the triad of involvement however remains elusive. [1] Genetic studies are unavailable, probably because of the rarity of the syndrome. The chromosomal study has been reported as normal in one patient. [5]

Wolffian defects and ARCS/AUCS should be considered in men presenting with KF anomalies. USG evaluation of the genitourinary system should be done. [8] Rarely, as in this patient, MRI is useful in visualizing the genitourinary system, especially when USG is inconclusive and intravenous urography or CT scan are unsafe or unlikely to be informative because of poor renal function.


   Acknowledgment Top


Vinay Wilson and Lydia Solomon for technical assistance.

 
   References Top

1.Meschede D, Kliesch S, Horst J, Nieschlag E. Azoospermia and segmentation abnormalities of the cervicothoracic spine ('MURCS in the male'). Clin Dysmorphol 1998;7:59-60.  Back to cited text no. 1  [PUBMED]  
2.McGaughran J. MURCS in a male: A further case. Clin Dysmorphol 1999;8:77.  Back to cited text no. 2  [PUBMED]  
3.Balasubramanian S, Muralinath S, Shivbalan S, Sripathi V, Shivakumar S. MURCS association. Indian J Pediatr 2004;71:653-4.  Back to cited text no. 3    
4.Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllιriennes, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis 2007;2:13.  Back to cited text no. 4    
5.Wellesley DG, Slaney SF. MURCS in a male? J Med Genet 1995;32:314-5.  Back to cited text no. 5  [PUBMED]  
6.Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-­Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) - phenotypic manifestations and genetic approaches. J Negat Results Biomed 2006;5:1.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Duncan PA. Embryologic pathogenesis of renal agenesis associated with cervical vertebral anomalies (Klippel-Feil phenotype). Birth Defects Orig Artic Ser 1977;13:91-101.  Back to cited text no. 7  [PUBMED]  
8.Guille JT, Sherk HH. Congenital osseous anomalies of the upper and lower cervical spine in children. J Bone Joint Surg Am 2002;84:277-88.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]

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Correspondence Address:
Pratish George
Department of Internal Medicine, Christian Medical College and Hospital, Brown Road, Ludhiana - 141 008, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.37049

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