Aphallia: report of three cases and literature review

Background: Aphallia or penile agenesis is a rare malformation accompanying with no phallus. This anomaly is extremely rare with abnormality of urogenital system and psychological consequences. Its outbreak is estimated 1 out of 10-30 million births

Case: Reviewing 3 cases of male external genitalia agenesis, which associated with multiple anomalies of musculoskeletal, cardiovascular and genitourinary system

Conclusion: Aphallia has psychosocial consequences and a guarded prognosis. This study showed that if the kidney failure is due to its obstruction, these patients will be born in more favorable conditions and the future treatment measures will be directed to keep the external genitalia [male] through timely diagnosis and prenatal surgery and timely bladder drainage

Role of Urinary Levels of Endothelin-1, Monocyte Chemotactic Peptide-1, and N-Acetyl Glucosaminidase in Predicting the Severity of Obstruction in Hydronephrotic Neonates

PURPOSE: Antenatal hydronephrosis (AH) is found in 0.5%-1% of neonates. The aim of the study was to assess the urinary concentrations of 3 biomarkers, endothelin-1 (ET-1), monocyte chemotactic peptide-1 (MCP-1), and N-acetyl-glucosaminidase (NAG) in severely hydronephrotic neonates. MATERIALS AND METHODS: Neonates with a history of prenatal hydronephrosis were enrolled in the prospective study in 2 groups. Group 1 included neonates with severe forms of obstruction requiring surgical intervention and group 2 included neonates with milder forms of obstruction without any functional impairment. Fresh voided urinary levels of ET-1, MCP-1, and NAG were measured and their ratios to urinary Cr were calculated. RESULTS: Fourty-two neonates were enrolled into the 2 groups: group 1, 24 patients (21 male, 3 female); group 2, 18 neonates (16 male, 2 female). There were no statistically significant differences between urinary ET-1, NAG, MCP-1 values, and ET-1/Cr and NAG/Cr ratios in groups 1 and 2. The urinary MCP-1/Cr ratio was significantly higher in group 1 than in group 2. For comparison of groups 1 and 2, the cut-off values were measured as 0.5709 ng/mg (sensitivity, 75%; specificity, 67%; positive predictive value [PPV], 71%; negative predictive value [NPV], 71%), 0.927 ng/mg (sensitivity, 77%; specificity, 72%; PPV, 77%; NPV, 72%), and 1.1913 IU/mg (sensitivity, 62%; specificity, 67%; PPV, 68%; NPV, 60%) for ET-1/Cr, MCP-1/Cr, and NAG/Cr ratios, respectively. CONCLUSIONS: The urinary MCP-1/Cr ratio is significantly elevated in neonates with severe obstruction requiring surgical intervention. Based upon these results, urinary MCP-1/Cr may be useful in identification of severe obstructive hydronephrosis in neonates.

Outcome of vesicoureteral reflux in infants: impact of prenatal diagnosis

Vesicoureteral reflux [VUR] is an important disorder that could be diagnosed in antenatal or postnatal period. The natural history of VUR seems to be different between prenatal or postnatal forms of the disease. We compared the natural history and outcome of vesicoureteral reflux in infants less than one year old diagnosed prenatally or postnatally. All infants less than 12 months old with VUR were enrolled in two groups. Group 1 composed of patients with antenatal hydronephrosis and group2, infants with diagnosis of VUR because of UTI or other postnatal problems. We followed patients for an average of 33 months. Outcome was assessed by several factors: somatic growth, need for surgery, resolution, occurrence of UTI and scar formation. We studied 236 renal units in 152 patients [70 boys, 82girls], 67 patients in group 1 and 85 patients in group2. Occurrence of recurrent UTI was 10.6% with no significant difference between two groups. Reflux resolved in postnatal group more significantly than in the other group [73% vs 49%]. Scar developed similarly in both groups [15% vs 25% of renal units]. Surgery performed in 7 [8.2%] of postnatal and 4 [6%] of prenatal group with no significant differences between the two groups. VUR diagnosed prenatally has similar importance and outcome as postnatal diagnosed one. We suggest performing the same imaging and treatment procedures for prenatally and postnatally diagnosed VUR

Congenital diaphragmatic hernia following usage of lithium carbonate; is lithium a teratogen?

Lithium is used mainly for the treatment of Bipolar Disorder [BD]. Case reports and several retrospective studies have demonstrated possible teratogenicity, but the data in different studies is inconclusive. The risk for cardiovascular malformations, particularly Ebstein's anomaly and other congenital abnormalities have been reported. A 25-year-old gravida 1, para 1 woman at 38 weeks of gestation was admitted for an elective caesarean section. She had a history of BP for which she was treated with lithium 600mg q12h in the first trimester of pregnancy. There was no familial history of birth defects, any antenatal infection or exposure to any other medications, alcohol, smoking, or X-rays. A baby boy [3500g] was born. After 2 to 3 hours respiratory distress clinical picture and chest radiograph suggested diagnosis of congenital diaphragmatic hernia. Repair of his diaphragm was preformed and patient discharged after 12 days. Lithium probably produces a defect in normal development of the diaphragm and may pose specific risk for an anomaly known as congenital diaphragmatic hernia [CDH]

Neonatal gangrene of the extremity: a complication of umbilical catheterization

We report a case of severe tissue ischemia after umbilical catheterization in a preterm newborn. Umbilical catheters can accidentally enter branches of the iliac artery during attempted placement in the umbilical vein. If these misplacements are not recognized by radiology and promptly corrected, arterial obstruction may lead to ischemia and infarction of the extremities. This is the first report of below-knee gangrene due to peripheral vasospasm or thrombosis occurring after umbilical vein catheterization [UVC]. We discuss that the radiographic verification is essential before infusing medications

Vesicoureteral reflux in neonates with hydronephrosis; role of imaging tools

Neonatal Hydronephrosis is a common abnormality diagnosed ante- or postnatally. The aim of this study was to determine the prevalence and severity of vesicoureteral reflux [VUR] in neonates with antenatal or postnatal hydronephrosis and the value of ultrasonography as a noninvasive tool for VUR prediction. In a prospective study, 202 infants with neonatal hydronephrosis were studied. Two successive renal ultrasound examinations were performed at 1 and 4-6 weeks after birth in neonates with antenatal hydronephrosis or immediately after presentation. Voiding cystourethrography [VCUG] was performed in all infants. The incidence of VUR was 29.7%, of which 17.8% had severe [grade IV-V] reflux. 27% of 133 neonates with unilateral and 34.8% of 69 cases with bilateral hydronephrosis had VUR. Although a significant association was observed between severity of hydronephrosis and VUR, 5.9% of normal appearing and 7.8% of grade 1 hydronephrotic neonates had high-grade reflux. VUR was observed significantly in hydronephrotic neonates. A normal or mildly hydronephrotic urinary tract on ultrasound scan cannot exclude presence of severe VUR. We recommend performing VCUG in all hydronephrotic newborns