Genitourinary Congenital Abnormalities Flashcards
What is the medical term for undescended testicle and why is it important?
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
In cases of cryptorchidism where can the testicle be located?
Testicle usually lies along the path of descent although can be elsewhere. Testicle can be found: prepenile, superficial ectopic, transverse scrotal femoral and perineal.
What risk factors are there for cryporchidism?
Neonate
Preterm (1/4 are bilateral)
How is cryptorchidism managed?
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.
If a baby presents with absent or feeble voiding what would your main differential be?
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.
What is the gold standard for diagnosing posterior urethral valves ad how is it treated?
A micturating cystogram will show posterior urethral dilatation.
Treat with endoscopic valve ablation.
What is hypospadias?
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.
How does hypospadias present?
Presents with difficulty urinating standing up or cosmetic concerns. Can also occur with ventral curving of the penis.
How is hypospadias managed?
Avoid circumcision and use foreskin for preschool repair over one or more procedures.
What is phimosis?
A foreskin that is too tight, over 90% of boys should be able to retract their foreskin by the age of 11.
What are the clinical features of phimosis?
Retraction of the foreskin is not possible
Foreskin ballooning when voiding
Balanitis
What causes phimosis?
Scarring
Sometimes forced retraction is causative
How is phimosis managed?
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
What is paraphimosis?
Foreskin of a uncircumcised penis is retracted and left behind the gland penis leading to vascular engorgement and oedema of the distal glans.
How is paraphimosis managed?
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
How do horse shoe kidneys or crossed fused kidneys present and what other condition does it typically present with in girls?
Usually presents silently or with obstructive uropathy and recurrent renal infections. Diagnosis made by USS. Commonly occurs with Mullerian anomalies in girls.
What is poly cystic kidney disease?
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.
How does renal agenesis usually present?
Oligohydramnios, if bilateral then fatal. Associated with many other abnormalities in other systems.
What is a patent urachus and how is it diagnosed?
Urine leaking form the umbilical cord. Diagnosed via excretory urogram.
What is bladder exstrophy?
– 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.
What is Wilm’s tumour?
Most common renal tumour in children. Undifferentiated mesodermal tumour of intermediate cells mass. It can have familial associations or be sporadic.
How does Wilm’s tumour usually present?
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
How should Wilm’s tumour be investigated?
Investigate with CT/MRI to plan surgery
How is Wilm’s tumour definitively managed?
Avoid biopsy
Nephrectomy plus vincristine and actinomycin for 4 weeks pre op. Often this cures it
90% 10-year survival.
