Developmental anomalies associated with hypospadias.

BK Kulkarni, SN Oak, MP Patel, S Merchant, SS Borwankar 
 Department of Paediatric Surgery, K. E. M. Hospital, Parel, Bombay, Maharashtra.

Correspondence Address:
B K Kulkarni
Department of Paediatric Surgery, K. E. M. Hospital, Parel, Bombay, Maharashtra.

Full Text

::   Introduction

Hypospadias is a congenital anomaly of defective closure of urethra in which the meatus is situated proximal and ventral to its normal location. There are many reports on congenital anomalies associated with hypospadias; but few reveal relationship between the cause of hypospadias and associated developmental anomalies.

We present here the result of analysis carried out in patients with hypospadias.

::   Material and method

Hundred and thirty patients with hypospadias aged between 1 and 11 yrs were treated in Dept. of Paediatric Surgery, King Edward Memorial Hospital, Bombay, over a period of 8 years from 1983 to 1990. Fifty-four per cent of these cases did not have any other associated anomaly. However, 46% of this group had anomalies of urogenital or other systems [Table:1].

These cases were graded as shown in [Table:2] according to the severity of defect. In order to assess the urinary tract prior to surgery, an intravenous urogram. was done in all the cases. Micturating cystourethrogram was per formed in those cases where urogram ha suggested a possibility of back pressure changes or dilatation of collecting system or after first stage of hypospadias repair when difficulty was encountered in catheterization and a prostatic pouch was suspected.

::   Results and discussion

There were 14 upper urinary tract anomalies in our series (11%) [Table:3]. However, there was no direct relationship between the degree of hypospadias and upper urinary tract anomaly. The upper urinary tract anomalies were more frequently found in patients with hypospadias than in general population[5],[9],[10]. Fallon and associates[3] recognised upper urinary tract anomalies in 16 of the 200 cases (M). Our incidence of 11% is certainly higher than 4% reported by Shima et al[13]. The overall incidence of malrotated kidneys in the population is reported to be between 1:400 and 1:200[2],[7]. In our series the rotational deformities were noted in 3% of the cases; which is comparable to 3.6% by Rozennian[12]. Renal agenesis occurs in the general population in a frequency of 0.12%[6]. Our series had only one case (0.7%) of renal agenesis.

Embryologically fusion of urethral folds takes place at or later than 8 weeks. The ascent and rotation of kidneys occurs during the 6th and 7th week; somewhat earlier than the development of urethra. However, there is some overlap of maturation and it is possible that the development of kidneys and the urethra is influenced by a common factor [8]. This indicates the importance of intravenous pyelography as an investigation modality[5] although McArdle and Lebowitz[11] consider a routine screening IVP unnecessary in cases of uncomplicated hypospadias. Incidence of anomalies requiring surgical correction are less and the anatomical abnormality of the urinary tract can now be obtained by non-invasive investigatory modality like sonography. We noted 14 anomalies in the lower urinary tract of our 130 cases. [Table:4] Utriculus masculinus, a derivative of mullerian duct, was seen in 2% of our cases. Shima et a1[13] report a higher incidence of 11% in 272 cases. In a foetus, destined to be male, mullerian inhibiting substance (MIS) is secreted from the Sertoli cells of the testis, which causes regression of mullerian duct. Patients with hypospadias associated with utriculus masculinus may have insufficient secretion of MIS during intrauterine period. The incidence of this anomaly increases in proportion to the severity hypospadias. Vesico-ureteral reflux was recognised in 7 cases, 4 of which were asymptomatic, while 3 had proven urinary tract infection. Micturating cystoure-throgram[10] thus can reveal a significant degree of meatal stenosis; bladder diverticula and a vesico-ureteral reflux, which may require early specific surgical and medical treatment.

Associated genital anomalies detected by us are listed in [Table:5]. Undescended testis was found in 6.93% of cases, which is the most frequent anomaly seen in patients with hypospadias. The incidence of cryptorchidism was 12.9% of 505 cases reported by Farkas[4], and 10.2% of 489 cases by Kennedy[9]. Development anomalies of testis also included hypoplasia and this had a close relationship to the severity of penile deformity. The incidence of congenital anomalies of the external genitalia was 14 of 130 cases, i.e. 11%. This is comparable to 9.6%, as quoted by Shima[13]. There were 3 cases with prepenile and 6 cases with bifid scrotum. Five patients had a small phallus.

Other associated developmental anomalies were seen in 29 cases (24%). Inguinal hernia had an incidence of 3.85%, [Table:6], whereas cardiac anomalies were noted in 1.54%, comparable to an incidence of 0.6% in general population [1]. Imperforate anus was found to be present in 2.3% cases of hypospadias.

There was an incidence of overlapping congenital anomalies in 16% of cases, which increases in proportion to the increase in severity of hypospadias.

The present series had 8 cases of genetic anomalies. Two patients had mixed gondal dysgenesis. One patient of perineal hypospadias had congenital adrenal hyperplasia due to 3 ? -01-dehydrogenase deficiency. Aarskog's syndrome was seen in 2 males and 3 others had Opitz syndrome. These anomalies were common in more severe degree of hypospadiac cases; and emphasize the need of chromosomal studies and hormonal estimations in perineal and penoscrotal varieties of hypospadias.

Thus, it can be seen from our study that hypospadias is associated with 'significant' urological anomalies as compared to general population.

Most of them though do not require immediate surgical correction, knowledge of their presence may be important in planning the long term management of the patient. Ultrasonography and intravenous urography accurately detect the urological anomalies anatomically and functionally; while micturating cystourethrogram can be reserved for hypospadiac boys with back pressure changes and suspected vesicoureteric reflux.

::   Acknowledgment

We thank Dr (Mrs.) Pragnya Pai, Dean, Seth GS Medical College & King Edward Memorial Hospital, Parel, Bombay for permitting us to publish this work.

References