Year : 2011 | Volume
: 22 | Issue : 2 | Page : 315--318
The right sided syndrome, congenital absence of kidney and testis
KVS Hari Kumar1, B Srinivas Rao2, Shekhar Shiradhonkar2, Ratan Jha2, Girish Narayan2, KD Modi1,
1 Department of Endocrinology, Medwin Hospitals, Chirag Ali Lane, Nampally, Hyderabad, AP, India
2 Department of Nephrology, Medwin Hospitals, Chirag Ali Lane, Nampally, Hyderabad, AP, India
KVS Hari Kumar
Department of Endocrinology, Command Hospital (CC), Lucknow 226002, UP.
Unilateral renal agenesis (URA) is a developmental defect associated with anomalies of the genitourinary system. The associations vary from absence of testis alone to high anorectal anomalies in other patients. We present two interesting patients with URA, encountered recently. Our first case was diagnosed with URA at the age of 11 years, which was detected on sonography, when he presented with pain abdomen. The presence of an epididymal cyst masked the absence of ipsilateral testes leading to delay in the diagnosis. Our second case was diagnosed with URA during the neonatal period when he presented with anorectal agenesis. He underwent abdomino-anal pull-through operation and later clinical course was complicated by recurrent cystitis, secondary vesicoureteral reflux and hydroureteronephrosis of solitary kidney, progressing to chronic kidney disease.
|How to cite this article:|
Kumar KH, Rao B S, Shiradhonkar S, Jha R, Narayan G, Modi K D. The right sided syndrome, congenital absence of kidney and testis.Saudi J Kidney Dis Transpl 2011;22:315-318
|How to cite this URL:|
Kumar KH, Rao B S, Shiradhonkar S, Jha R, Narayan G, Modi K D. The right sided syndrome, congenital absence of kidney and testis. Saudi J Kidney Dis Transpl [serial online] 2011 [cited 2020 Jan 25 ];22:315-318
Available from: http://www.sjkdt.org/text.asp?2011/22/2/315/77616
Renal agenesis is a common congenital anomaly which may be unilateral or bilateral.  Unilateral renal agenesis (URA) is usually an incidental finding with the contralateral kidney demonstrating compensatory hypertrophy. Since urinary and genital systems originate in the intermediate mesoderm, renal agenesis may be associated with ipsilateral urogenital anomalies.  This unusual combination of absence of kidney, testis and rectus on the right side is described under the term "The Right Sided Syndrome".  The common associations described are ipsilateral adrenal agenesis, absence of testis and vas deferens, unicornuate uterus and VATER syndrome (Vertebral and ventricular septal anomalies, Anorectal atresia, Tracheal and Esophageal lesions and Radial bone abnormalities). We encountered two interesting cases of URA recently. Our first patient was a young boy, who was diagnosed with URA during abdominal sonography for an unrelated condition. Our second case had more eventful course and was diagnosed with URA in the neonatal period when he presented with imperforate anus. He had associated high anorectal malformation and significant renoureterovesical abnormalities. We report these two cases to highlight the spectrum of abnormalities in this developmental anomaly.
A male child aged 11 years and nine months presented initially to a peripheral clinic with vague abdominal pain of two months duration, without any localizing features. Abdominal sonography revealed absence of right kidney and he was referred to our hospital for further evaluation. He was a product of non-consanguineous marriage and was born full-term by normal spontaneous vaginal delivery; his birth weight was 2.8 kg. The patient's milestones were normal and the parents did not notice any abnormality in bowel and micturition habits. His statural growth was comparable to peers and siblings. Anthropometric evaluation revealed a normal stature with height of 146 cm (50 th percentile) and weight of 40 kg (75 th centile) with blood pressure of 112/70 mmHg. On systemic examination, the boy had mild fullness of left renal angle. Examination of the external genitals revealed poorly developed right half of scrotum with a small swelling in this location. Compression of this swelling did not elicit classical testicular sensation. The right testis was not palpable in the scrotum or inguinal canal. The left side of the scrotum was normal with the left testis having a volume of 5 mL. His pubertal status was G2P2A1 as per Tanners grading. Routine laboratory studies including urine and stool examination did not reveal any abnormality. Ultrasound of the abdomen and pelvis revealed absence of the right kidney with compensatory hypertrophy of the left kidney. The right kidney could not be localized in the abdomen or pelvis. Scrotal ultrasound demonstrated absence of right testis with a cystic swelling of epididymal origin. The swelling did not show any color echoes on Doppler sonography. The testis could not be located in the inguinal canal or abdomen along the path of its descent or even in ectopic location. Kidney function tests were normal in the patient. Hormonal panel revealed normal thyroid function tests with pre-pubertal gonadotropin levels. He was managed symptomatically for pain abdomen and was advised about testicular implant into right scrotum for esthetic appeal.
A male patient aged 12 years and six months, a known case of URA, presented to us in March 2008 with short stature and breathlessness. He was a product of non-consanguineous marriage, born following full-term normal vaginal delivery, with a birth weight of 2.5 kg. He was diagnosed to have imperforate anus at birth and a temporary diversion colostomy was performed in the neonatal period. Subsequently, at the age of eight months, definitive abdominopelvic pull-through operation was performed. Detailed evaluation at this juncture had revealed recto-vesical fistula as well as right renal, testicular and sacral agenesis. He was lost to follow-up during that time and parents reported normal milestones in the child. At the age of four years, the patient presented with recurrent epididymoorchitis of the left side, occasionally associated with cystitis. He was treated symptomatically for infection with antibiotics and analgesics. Subsequently, he developed voiding dysfunction and evaluation revealed non-obstructive megaureter, gross hydroureteronephrosis of left kidney due to secondary vesico-ureteral reflux and large bladder diverticulum. Urodynamic evaluation done in 2007 revealed large capacity, low compliant bladder with features of outlet obstruction. He was advised intermittent self-catheterization which was not followed diligently. His clinical course was complicated by significant growth retardation, recurrent urinary tract infections and progressive decline in glomerular filtration rate. He was receiving calcium and vitamin D supplements, hematinics and intermittent antibiotics, prior to his presentation in March 2008 with features of uremia (poor appetite, vomiting and breathlessness).
Anthropometric evaluation revealed a proportionate short stature with height of 127 cm (<5 th centile) and weight of 22 kg (<5 th centile) with blood pressure of 102/78 mmHg. On examination, the boy was found to have pallor, acidotic breathing and features of malnutrition with reduced muscle mass. The right testis was not palpable in the scrotum or the inguinal canal and left testis was normal with a volume of 4 mL. He was pre-pubertal as per Tanners grading and there was evidence of fecal soiling with decreased tone of anal orifice. There was no evidence of skeletal abnormalities or features suggestive of rickets. Investigations revealed hemoglobin of 6.3 gm/dL, blood urea of 109 mg/dL, serum creatinine of 5.7 mg/dL, calcium of 8.3 mg/dL, phosphorus of 7.2 mg/ dL, alkaline phosphatase of 156 IU/L, serum parathyroid hormone of 72 pmol/L, ferritin of 262 μg/mL, serum iron of 52 μg/dL, total iron binding capacity of 274 μg/dL and transferrin saturation of 18.5%. Urinalysis revealed significant albuminuria with specific gravity of 1010 and a 24-hour urine volume of 1600 mL. Arterial blood gas analysis revealed metabolic acidosis with a pH of 7.12 and bicarbonate of 12 meq/L. He was managed with intermittent hemodialysis and other nutritional supportive therapy. He has improved clinically with improved appetite, weight gain and is on regular renal replacement therapy since then, awaiting renal transplantation.
Renal agenesis may be unilateral or bilateral, and bilateral renal agenesis is a rare anomaly incompatible with life.  Our first case had no significant changes due to absence of right kidney and testis. The diagnosis was delayed in this child due to the presence of a cystic lesion of epididymis in the scrotum, mimicking the testis. The commonly associated abnormalities described with URA are absence of ipsilateral ureter, adrenal gland and testis. Other manifestations are absence of vas deferens, unicornuate uterus and seminal vesicle cysts.  Our first patient had an epididymal cyst which was unusual in this condition and also led to delayed presentation. The statural and pubertal development of the boy was normal, indicating normal hormonal function of solitary testis. Further detailed evaluation did not reveal other mesonephric duct abnormalities.
Anorectal malformations are rarely associated with URA and our second patient exhibited these classical features. He had anorectal agenesis with absent right kidney and testis. Recurrent cystitis and secondary VUR, leading to gross ureterohydronephrosis of the solitary kidney, resulted in chronic kidney disease in this patient. This highlights the fact that these patients need to be educated about their condition and the need to avoid all nephrotoxic agents. Also, they should be under regular follow-up to monitor for potential kidney damage. This patient did not have associated skeletal or cardiovascular abnormalities.
Although the exact etiology is unknown, there are various theories put forward to explain the renal agenesis.  Embryologically, male genitourinary system is derived from the mesonephric (Wolffian) duct and is under the influence of testosterone from fetal testis. The Wolffian duct derivatives include epididymis, rete testis, vas deferens, ejaculatory duct, seminal vesicle and hemitrigone. Ureteric buds, derived from the mesonephric ducts, fuse with the metanephros at 32 days to begin nephrogenesis. Therefore, URA could be due to the absence of metanephric blastema, ureteral bud maldevelopment or lack of induction of the metanephros by the ureteral bud. Sometimes, solitary kidney may be the result of post-natal involution of multicystic dysplastic kidney.  Since the development of urinary and genital systems is closely interlinked, renal agenesis may be associated with ipsilateral urogenital anomalies. Kallmann syndrome with x-linked icthyosis was rarely described in association with renal agenesis. 
To conclude, URA is an uncommon condition with varying presentation. A high index of suspicion is required to identify this anomaly in patients with cryptorchidism, anorectal malformations and other anomalies.
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