CONGENITAL DISORDERS OF URINALY TRACTS.pptx

Medical notes

1. CONGENITAL DISORDERS OF URINALY TRACTS.( bladder,testis,penis and urethra ) John igenge Md,Mmed(urology)

2. Congenital anomalies of bladder: Exstrophy:-is a complete ventral defect of urogenital sinus and the overlying skeletal system. Incidence of this anomaly is reported to be 3.3 per 100,000 births. . Male to female ratio is about 1.5:1 Symptoms and signs:- The lower central abdomen is occupied by the inner surface of the posterior wall of the bladder, whose mucosal edges are fused with the skin. Urine spurts onto the abdominal wall from the ureteral orifices. .

3. The rami of the pubic bones are widely separated. The pelvic ring thus lacks rigidity, the femurs are rotated externally, and the child “waddles like a duck.” The rectus muscles are widely separated from each other caudally. A hernia, made up of the exstrophic bladder and surrounding skin, is present

4. Diagnosis: Prenatal diagnosis is difficult (Austin et al, 1998; Emanuel et al, 1995). Obvious anomaly of exposed bladder mucosa makes diagnosis easy at birth. X-ray studies will reveal separation of pubic bones.

5. Treatment: Treatment involves urology and orthopaedic team as follows;- Vining et al, 2011). Mollard (1980) recommends the following steps for satisfactory repair of bladder exstrophy (Mollard, 1980): (1) bladder closure with sacral osteotomy in order to close the pelvic ring at the pubic symphysis (Cervellione, 2011), plus lengthening of the penis; (2) antiureteral reflux procedure and bladder neck reconstruction; and (3) repair of the epispadiac penis. Treatment needs to be initiated prior to the fibrosis of the bladder mucosa in order to repair this anomaly completely (Oesterling and Jeffs, 1987)

6. When the bladder is small, fibrotic, and inelastic, functional closure becomes inadvisable, and urinary diversion with cystectomy is the treatment of choice. Prognosis:- Common complications after surgical repair include incontinence. infertility, vesicoureteral reflux, and urinary tract infection. Adenocarcinoma of the bladder and rectum are noted in higher frequency .

7. Persistent patent urachus: Embryologically, the allantois connects the urogenital sinus with the umbilicus. Normally, the allantois is obliterated and is represented by a fibrous cord (urachus) extending from the dome of the bladder to the navel (Bauer and Retik, 1978). Urachal formation is directly related to bladder descent. Lack of descent is more commonly associated with patent urachus than with bladder outlet obstruction (Scheye et al, 1994).

8. Sign and symptoms: is complete except at the superior end, a draining umbilical sinus may be noted. If it becomes infected, the drainage will be purulent. . If the inferior end remains open, it will communicate with the bladder, but this does not usually produce symptoms. Rarely, the entire tract remains patent, in which case urine drains constantly from the umbilicus. f only the ends of the urachus seal off, a cyst of that body may form and may become quite large, presenting a low midline mass. Adenocarcinoma may occur in an urachal cyst.

9. Diagnosis:- Physical examination reveals opening sinus or lower abdominal mass. Computed tomography (CT) scan, magnetic resonance imaging (MRI), or ultrasound may show cystic structure adjacent to the bladder dome, Cystoscope may show extrinsic compression from the mass. Stones may develop in a cyst of the urachus and can be identified on a plain x-ray film,

10. Treatment. Treatment consists of excision of the urachus, which lies on the peritoneal surface If adenocarcinoma is present, radical resection is required. Unless other serious congenital anomalies are present, the prognosis is good , The complication of adenocarcinoma offers a poor prognosis.

11. Other bladder anomalies:- Congenital diverticulum is found in approximately 1.7% of children (Blane et al, 1994) This is caused by the congenital weakness of Waldeyer fascial sheath. Most of the cases are asymptomatic; however, it can cause urinary tract infection, and in rare cases, it can cause ureteral or bladder outlet obstruction. Bladder Ears :-One side of the bladder may become involved in an inguinal hernia. Such a mass may recede on urination. The condition can be found during contrast x-ray studies of urinary tract. Megacystis:- s is a condition with enlarged bladder due to overdistention during the development, commonly associated with massive reflux with hydronephrosis, This condition can be associated with other conditions, such as posterior valve.

12. Congenital disorders of Testis:- The gubernaculum opens the way for the testicle to follow the scrotum, There are two kinds of undescended testicles, those in which the gubernaculum has gone off course(ectopic) and those in which the descent to the bottom of the scrotum is incomplete (incomplete descent). Ectopic testicle The errant gubernaculum may guide the ectopic testicle into one of four positions: inguinal, in the abdominal wall near the external inguinal ring; perineal; penile, near the base of the penis; and crural, in the thigh. Incomplete descent These testicles always move up and down and are defined according to their range of movement. Abdominal, which may move in and out of the internal inguinal ring , Inguinal , which move along the inguinal canal . Emergent , when they appear at the external ring.

13. High retractile , when they move up and down but cannot be made to go to the bottom of the scrotum. Low retractile , when they descend to the bottom of the scrotum in a warm bath, under general anaesthesia or with gentle persuasion by a doctor’s warm hand. Low retractile testes are essentially normal and will always end up in the scrotum with puberty.

14. Complications: Torsion. There is often a large loose sac of peritoneum in front of an emergent or retractile undescended testicle, which makes it prone to torsion (Figure 18.13). Infertility . Infertility is common with bilateral undescended testicles, but not with unilateral undescent. Cancer . About 1 in 10 testicular tumours is associated with maldescent.

15. Diagnosis:- the diagnosis is made by inspection and palpation, When no testicle can be felt on one side, it is often in the inguinal canal. The testicle is easily found with imaging a computerized tomography (CT) scan or MRI even in the abdomen.

16. Management: It is done through orchidopexy. Timing of orchidopexy ; 90% of testicles are in the scrotum at birth, the next 9% do no descend until 12 months, after which no more do. Infertility, and possibly the late development of cancer, is thought to be prevented by orchidopexy performed before the age of 3, so there is a window of opportunity between 2 and 3, but at this age the technique is difficult. When an undescended testicle is found in a mature grown man, orchidectomy is the procedure that should be advised in view of the risks of malignancy. If the patient is concerned about his cosmetic appearance, he may be offered a silicone prosthesis.

17. Congenital Disorder of penis: Hypospadias: -The etiology can be defined in less than 5% of patients. This leaves most cases without a defined etiology. The variable expression of the AR in the ventral versus the dorsal urethra may play a role in the etiology of hypospadias. Recent theories suggest an abnormality in closure of the midline urethral seam. Another possible etiology explaining the increase in incidence of hypospadias in western countries over the last 25 years is an increase in exposure to environmental endocrine disruptors

18. In severe forms of hypospadias with perineal or scrotal urethral openings, severe curvature and the phallus buried within the scrotum are the critical issues confirming the correct diagnosis. This is also the case for patients with hypospadias and a nonpalpable or undescended testis. If any doubt exists, patients with severe hypospadias, hypospadias in association with an undescended testis, or both, a karyotype should be checked to document genotype. n severe cases of hypospadias where penile size is difficult to assess secondary to severe chordee, an hCG stimulation will assess the gonadal axis and confirm an intact AR by eliciting penile growth.

19. Micropenis:- A penis less than 2.5 cm in stretched penile length without hypospadias in a full-term male is defined as micropenis. It can be caused by multiple etiologies, the most common being fetal testosterone deficiency followed by partial defects in the AR or 5α-reductase enzyme. Fetal testosterone synthesis can be divided into two categories: (1) primary testicular failure (Leydig cell) and (2) central failure. Central failure can be from congenital hypopituitarism or isolated gonadotropin deficiency. Patients with decreased fetal testosterone production either from Leydig cell failure or lack of Leydig cell stimulation from gonadotropin deficiency respond to treatment with supplementary testosterone enanthate intramuscular injections 25–50 mg each month for 3 consecutive months. Patients with micropenis identified with the male gender had normal erections, ejaculation, and orgasm.

20. Long-term outcomes of patients with micropenis have documented that final adult penile length is normal for >90% of patients treated with multiple short courses of testosterone enanthate.

21. Epispadias: Abnormal urethral opening at dorsal aspect of penis. The incidence of complete epispadias is approximately 1 in 120,000 males and 1 in 450,000 females. The urethra is displaced dorsally, and classification is based on its position in males. In glandular epispadias, the urethra opens on the dorsal aspect of the glans, which is broad and flattened. In the penile type, the urethral meatus, which is often broad and gaping, is located between the pubic symphysis and the coronal sulcus. A distal groove usually extends from the meatus through the splayed glans. The penopubic type has the urethral opening at the penopubic junction, and the entire penis has a distal dorsal groove extending through the glans

22. Patients with glandular epispadias seldom have urinary incontinence. However, with penopubic and penile epispadias, incontinence is present in 95% and 75% of cases, respectively. Females with epispadias have a bifid clitoris and separation of the labia,and mostly are incontinent. Urinary incontinence is a common problem because of maldevelopment of the urinary sphincters. Dorsal curvature of the penis (dorsal chordee) is also present. The pubic bones are separated as in exstrophy of the bladder. Epispadias is a mild form of bladder exstrophy, and in severe cases, exstrophy and epispadias coexist.