Genitourinary Congenital Abnormalities

Question 1

What is the medical term for undescended testicle and why is it important?

Answer 1

Cryptorchidism

Be careful as on cold days retractile muscles may pull the testicles into the inguinal pouch where they can hide. These are not undescended just retractile.

Complications 
Infertility 
Torsion 
Testicular cancer 
Psychological

Question 2

In cases of cryptorchidism where can the testicle be located?

Answer 2

Testicle usually lies along the path of descent although can be elsewhere. Testicle can be found: prepenile, superficial ectopic, transverse scrotal femoral and perineal.

Question 3

What risk factors are there for cryporchidism?

Answer 3

Neonate

Preterm (1/4 are bilateral)

Question 4

How is cryptorchidism managed?

Answer 4

Unilateral - referral to urology if still present at 3 months and seen by 6 months
Orchidopexy - early surgical intervention prevents infertility and neoplasia
Bilateral – reviewed by senior paediatrician within 24hours as child may require urgent endocrine or genetic investigation.

If the testicle is palpable then operation in the groin to free testicle and bring it down. This is termed inguinal orchidopexy. If impalpable then an operation needs to be done to find the testis in the abdomen this requires a laparoscopy.

Question 5

If a baby presents with absent or feeble voiding what would your main differential be?

Answer 5

Posterior Urethral Valves

Only occurs in males. Valves are found in the urethra causing backflow of urine and a hydronephrosis. Usually as a result of bladder mucosa in the bladder neck.

May be diagnosed antenatally due to oligohydramnios.

Question 6

What is the gold standard for diagnosing posterior urethral valves ad how is it treated?

Answer 6

A micturating cystogram will show posterior urethral dilatation.

Treat with endoscopic valve ablation.

Question 7

What is hypospadias?

Answer 7

Abnormal position of the external urethral meatus, usually on the distal ventral penis. Epispadias described when the meatus is on the dorsal aspect of the penis.

Question 8

How does hypospadias present?

Answer 8

Presents with difficulty urinating standing up or cosmetic concerns. Can also occur with ventral curving of the penis.

Question 9

How is hypospadias managed?

Answer 9

Avoid circumcision and use foreskin for preschool repair over one or more procedures.

Question 10

What is phimosis?

Answer 10

A foreskin that is too tight, over 90% of boys should be able to retract their foreskin by the age of 11.

Question 11

What are the clinical features of phimosis?

Answer 11

Retraction of the foreskin is not possible
Foreskin ballooning when voiding
Balanitis

Question 12

What causes phimosis?

Answer 12

Scarring

Sometimes forced retraction is causative

Question 13

How is phimosis managed?

Answer 13

Time/wait and see if less than 12 years
If over 12 years then gentle stretching exercises in hot water and topical steroids twice daily
Circumcision

Question 14

What is paraphimosis?

Answer 14

Foreskin of a uncircumcised penis is retracted and left behind the gland penis leading to vascular engorgement and oedema of the distal glans.

Question 15

How is paraphimosis managed?

Answer 15

Chronic without any necrosis
Surgical reduction followed by circumcision

Acute without necrosis
• Manual manipulation (with analgesia) – compression until swelling is noted to have reduced, osmotic agent such as granulated sugar also applied. Once swelling is reduced then foreskin is manually reduced back
• Punctured technique – perforation of the foreskin at multiple points to allow oedematous fluid to flow out
• Hyaluronidase – can be used to augment the puncture technique
• Surgical reduction by circumcision

Acute with necrosis
Emergency surgery for debridement

Question 16

How do horse shoe kidneys or crossed fused kidneys present and what other condition does it typically present with in girls?

Answer 16

Usually presents silently or with obstructive uropathy and recurrent renal infections. Diagnosis made by USS. Commonly occurs with Mullerian anomalies in girls.

Question 17

What is poly cystic kidney disease?

Answer 17

Genetic condition usually diagnosed antenatally due to large kidneys. CKD occurs from birth. Children slowly develop hyponatraemia, hypertension and renal failure. Usually high incident of UTIs and portal hypertension with haematemesis.

Question 18

How does renal agenesis usually present?

Answer 18

Oligohydramnios, if bilateral then fatal. Associated with many other abnormalities in other systems.

Question 19

What is a patent urachus and how is it diagnosed?

Answer 19

Urine leaking form the umbilical cord. Diagnosed via excretory urogram.

Question 20

What is bladder exstrophy?

Answer 20

– extrusion of the bladder through a defect in the abdominal wall. Can involve other organs as well as bones. Can be associated with inguinal hernias and undescended testicles.

Question 21

What is Wilm’s tumour?

Answer 21

Most common renal tumour in children. Undifferentiated mesodermal tumour of intermediate cells mass. It can have familial associations or be sporadic.

Question 22

How does Wilm’s tumour usually present?

Answer 22

Presents before 4yrs usually due to abdominal mass and the majority of the time is unilateral.

Clinical features 
Painless palpable abdominal mass 
Fever
Flank pain
Haematuria 
Hypertension 
Metastasises to the lungs most commonly

Question 23

How should Wilm’s tumour be investigated?

Answer 23

Investigate with CT/MRI to plan surgery

Question 24

How is Wilm’s tumour definitively managed?

Answer 24

Avoid biopsy
Nephrectomy plus vincristine and actinomycin for 4 weeks pre op. Often this cures it
90% 10-year survival.