Genitalia Disorders

Question 1

Define Phimosis

Answer 1

Phimosis is a condition where the foreskin is too tight to be pulled back over the head of the penis (glans)

When traction is applied (gently) to a normal foreskin, the skin at the preputial opening is seen to evert, even if it does not necessarily open up. A foreskin that is pathologically non-retractile will not do this, and will truly render the glans ‘muzzled’ (Greek word ‘phimos’). This differentiates a foreskin that is simply non-retractile (i.e. normal, physiological) from one which is problematic (phimosis).

Question 2

By what age should the foreskin be retractable?

Answer 2

• The majority of boys will have a retractile foreskin by 10 years of age and nearly all will have a retractile foreskin by 16-17 years of age. Phimosis can occur at any age.

Question 3

What condition gives rise to true phimosis?

Answer 3

The commonest condition that gives rise to a true phimosis is balanitis xerotica obliterans (BXO)

This gives rise to progressive scarring which can extend onto the glans, and ultimately into the urethra.

Usually affects older boys and adults

BXO is an indication for circumscision

Question 4

What is the presentation of phimosis?

Answer 4

• In physiological phimosis, parents may bring their son in for consultation, concerned that his foreskin may not yet be retracting. They may have noticed the naturally occurring adhesions or may be anxious about ballooning during micturition.
  
  • Problems relating to physiological phimosis may include recurrent balanoposthitis and recurrent urinary tract infections.
• Pathological phimosis may present as:
  
  • painful erections,
  • haematuria,
  • recurrent urinary tract infections,
  • preputial pain
  • weak urinary stream.
• There may be swelling, redness and tenderness of the prepuce with purulent discharge.
• Adhesions may be seen between the inner surface of the prepuce and the glans or the frenulum. The frenulum itself may be shortened and retraction of the foreskin may lead to ventral distortion of the glans.
• In physiological phimosis the meatus will appear healthy and unscarred. In pathological phimosis the meatus may appear scarred, with a fibrous white ring forming around the preputial orifice

Question 5

What is the management of phimosis?

Answer 5

• If the issue is a non-retractile foreskin and/or ballooning during micturition in a child aged under 2 years, an expectant approach should be taken in case this is physiological phimosis which will resolve in time.
• Avoid forcible retraction of a congenital phimosis, as this can result in scar formation and an acquired phimosis.
• Personal hygiene is very important. Advise cleaning under a retractable foreskin and always reduce it to cover the glans after cleaning.
• Topical steroid application to the preputial ring to treat ‘phimosis’ has reported success rates between 33-95%.
• Phimosis persisting after the age of 2 years may be considered for further treatment, particularly if recurrent balanoposthitis or urinary tract infections are occurring. The options are plastic surgery or circumcision.

Question 6

Define paraphimosis.

Answer 6

Paraphimosis is an irreducible retracted foreskin, most common in post-pubertal boys.

Question 7

What is a consequence of paraphimosis?

Answer 7

The glans swells, and if the prepuce is not reduced it may result in compromise of the blood supply to the glans.

Question 8

What is the presentation of paraphimosis?

Answer 8

• There is oedema around the constricting band that is usually the prepuce.
• There may be pain on erection.
• Infants may present just with irritability.
• A carer may discover the condition incidentally in a debilitated patient.
• In later stages, the glans may develop a blue or black colour due to necrosis.

Question 9

What is the management of paraphimosis?

Answer 9

• With ischaemia or necrosis:

o Emergency surgery

• Acute but without ischaemia or necrosis:
o Manipulation with topical analgesia (with ice packs, compression, osmotic agents)
o Puncture technique - perforating the foreskin at multiple locations to allow exudation of oedematous fluid (if manipulation was unsuccessful)

o Surgical reduction

• Chronic without ischaemia or necrosis:
o Surgical reduction

Question 10

Define hypospadias.

Answer 10

Hypospadias is a birth defect in boys in which the opening of the urethra is not located at the tip of the penis

Question 11

What are the different types of hypospadias?

Answer 11

Question 12

How common are hypospadias?

Answer 12

1 in 200 boys

Question 13

What 3 features are usually present in hypospadias?

Answer 13

Typically there are three features, although their occurrence is variable:

• abnormal site of ventral urethral meatus – the urethral meatus is variable in position, but in most (80%) is on the distal shaft or glans penis.
• ventral curvature of the shaft of the penis (formerly called ‘chordee’), more apparent on erection
• hooded appearance of the foreskin – characteristic in appearance because of ventral foreskin deficiency but of no functional significance.

Question 14

What is the management of hypospadias?

Answer 14

• Surgery is NOT mandatory
• May be performed on functional or cosmetic grounds (after 3 months)
• Ultimate functional aim of surgery is to allow boys to pass urine in a straight line whilst standing and to have a straight erection
• Prepuce may be preserved and reconstructed, although for more proximal hypospadias, it is sometimes required for the repair itself
• IMPORTANT: boys with hypospadias should NOT be circumcised before repair, because the skin is important for the repair

Question 15

Define hydrocele.

Answer 15

A hydrocoele is the excessive collection of serous fluid within the tunica vaginalis

• Similar underlying anatomy to a hernia but the patent processus vaginalis is note wide enough to form an inguinal hernia

Question 16

What are the clinical features of hydroceles?

Answer 16

• Hydroceles are usually asymptomatic and sometimes appear blue.
• Scrotal swelling
• They are usually identified during the routine newborn and infant physical examination (NIPE).
• They may present during a viral illness in infants, when fluid in the intra-abdominal cavity increases and passes down the patent processus vaginalis.

Question 17

What are the investigations for hydrocele?

Answer 17

• It is usually possible to feel the testis, however tense the hydrocele. Sometimes the hydrocele is separate from the testis as it is in the cord.
• The key to differentiating a hernia from a hydrocele is the ability to ‘palpate above’ a hydrocele.
• Hydroceles usually transilluminate.

Question 18

What is the management of hydrocele?

Answer 18

< 2 years (congenital hydrocoele) = most resolve spontaneously before the age of 2 so observation is appropriate unless there is bowel palpable in the groin and provided there is no evidence of underlying pathology

2-11 years

o Open repair
o Laparoscopic exploration
o Bilateral repair
o Abdominoscrotal hydrocoeles - require surgery through an abdominal incision

11-18 years - commonly non-communicating hydrocoele
o Idiopathic hydrocoele - observation is appropriate, however, surgery may be considered if it is large or uncomfortable
o Hydrocoele after varicocelectomy - conservative management is the initial approach, surgery is considered in cases that do not resolve

o Filarial-related hydrocoele (parasitic infection) - complete excision of the tunica vaginalis

Question 19

Define varicocele.

Answer 19

Scrotal swelling comprising dilated (varicose) testicular veins of the pampiniform plexus

Question 20

How common is varicocele?

Answer 20

15% of boys usually at puberty

Question 21

What is the cause of varicocele? Where does it most commonly occur?

Answer 21

Multifactorial cause

o Valvular incompetence plays a role (similar to varicose veins)

• More common on left (80-90%) due to

o The angle at which the left testicular vein meets the left renal vein
o Lack of effective valves between the left testicular vein and left renal vein
o Increased reflux from compression of the renal vein (between the superior mesenteric artery and the aorta)

Question 22

What are the clinical features of varicocele?

Answer 22

Usually asymptomatic

May cause dull ache

Scrotum can feel like a ‘bag of worms’ (scrotal heaviness), may look blue

Question 23

What are the investigations for varicocele?

Answer 23

• On examination: bluish colour, testis may be smaller or softer than normal

o Examine with patient standing – affected side will hang lower and swelling reduces on lying down

Question 24

What is the management of varicocele?

Answer 24

If asymptomatic, conservative management

May carry out occlusion of the gonadal veins via surgical ligation (through groin laparoscopically or by radiological embolization)

Question 25

Define cryptorchidism.

Answer 25

When one or both testes are not present within the dependent portion of the scrotal sac

Question 26

Where are most testes in cryptorchidism?

Answer 26

Most will get arrested along their normal pathway of descent

Question 27

How common is cryptorchidism?

Answer 27

Present in up to 5% of newborn term infants but more common in premature infants

By 3 months of age, only 1% still undescended.

Question 28

What would you find on examination in cryptorchidism?

Answer 28

• The diagnosis should ideally be made at the routine newborn examination

o Examine tested in a warm environment with warm hands
o The testes may be felt in the scrotum or may need to be delivered by gentle pressure along the line of the inguinal canal to the scrotum
o An undescended testis may be palpable or impalpable
o A PALPABLE undescended testis is usually seen or felt in the groin

▪ Sometime it is palpated below the external inguinal ring but outside the scrotum (‘ectopic testis)

o If testis is IMPALPABLE, it may be in the inguinal canal but cannot be identified or it may be intra-abdominal or absent

▪ If bilaterally impalpable, establish karyotype to exclude disorders of sex development. This is a medical emergency

o A testis may also be RETRACTILE
▪ The difference between a retractile and undescended testis is that a retractile testis can be manipulated into the scrotum with ease and without tension
▪ Contraction of the cremaster muscle pulls the testis up
▪ Parents may report that the testis is sometimes obvious, especially when boy is warm and relaxed

• Imaging is not useful

Question 29

What is the management of cryptorchidism?

Answer 29

• < 3 months

o If possibility of disorder of sexual development (e.g. ambiguous genitalia or hypospadias)
→ Urgently refer to a senior paediatrician within 24 hours as genetic or endocrine testing may be necessary

o If undescended testes are bilateral at birth → Urgently refer to a senior paediatrician within 24 hours as genetic or endocrine testing may be necessary

o If unilateral undescended testis

• At birth - arrange review at 6-8 weeks
• At 6-8 weeks
  
  • If both testes are descended, no further action is necessary
  • If unilateral undescended testis, re-examine at 3 months

At 3 months

• If both testes are descended, no further action is needed
• If both testes are in the scrotum, but one or both are retractile, advise the parents that annual follow up is needed throughout childhood as there is a risk of ascending testes
• If the testis is still undescended, refer the child to a paediatric surgeon before 6 months of age

If uncertain between undescended or retractile- referral for clarification of diagnosis

• Surgery

o Undescended palpable testis → Orchidopexy (placement of testis in the scrotum) is performed

o Undescended non-palpable testis → Laparoscopic inguinal surgical exploration with subsequent orchidopexy/orchidectomy

Orchidolysis- by 12 months

Orchidopexy- by 18 months

• In 10% of impalpable testis, they have regressed in development and are absent
• Summary

o If undescended by 3months, refer to paediatric surgery (before 6months)

o Orchidopexy should be considered from 3 months

Question 30

Why is a orchidopexy done?

Answer 30

• Cosmetic
• Reduced risk of trauma and torsion
• Fertility (particularly important if bilateral)
• Malignancy (increased risk in an undescended testis) (Ideally, surgery should be performed <1 year of age)

Question 31

Define testicular torsion.

Answer 31

Twisting or torsion of the spermatic cord results, initially, in venous outflow obstruction from the testicle, progressing to arterial occlusion and testicular infarction if not corrected

SURGICAL EMERGENCY

Question 32

When is testicular torsion most common?

Answer 32

Most common in post-pubertal boys but can occur at any age

Question 33

How do we classify testicular torsion?

Answer 33

Classification

o Intravaginal (most common)
▪ The spermatic cord twists within the tunica vaginalis

o Extravaginal (usually in neonates)

▪ The entire testis and tunica vaginalis twist in a vertical axis on the spermatic cord

▪ Due to incomplete fixation of the gubernaculum to the scrotal wall allowing free rotation

Question 34

What are the risk factors of testicular torsion?

Answer 34

o Undescended testis are at increased risk of torsion
o A testis lying transversely on its attachment to the spermatic cord (clapper bell testis) is also at increased risk

Question 35

What are the clinical features of testicular torsion?

Answer 35

• Sudden onset severe hemiscrotal pain (can be localised to lower abdomen)
• Makes walking uncomfortable
• Lower Abdominal pain
• Nausea and vomiting
• Redness and oedema of the scrotal skin

Question 36

What are the investigations of testicular torsion?

Answer 36

• Clinical examination

o Swollen, erythematous scrotum on affected side

o Will lie slightly higher than unaffected one
o May lie horizontal
o Thickened cord

o Testicular appendix: there may be a visible necrotic lesion on transillumination

Question 37

What are the differentials for testicular torsion?

Answer 37

Differentials: incarcerated inguinal hernia, epididymo-orchitis (usually more gradual onset)

Question 38

How do we think about testicular torsion management?

Answer 38

• Neonate?
• Availability of surgery?
• Time from onset of symptoms?
• Supportive care?

Question 39

In what time frame makes testicular viability more likely? When is loss of testis inevitable?

Answer 39

• 4 - 6 hours - more likely to be viable
• Peri-natal torsion - loss of testis almost inevitable.

Question 40

How does management for a neonate and non-neonate differ for testicular torsion?

Answer 40

Non-Neonates

o Immediate urological consultation for operative repair
o With supportive care: morphine sulfate and ondansetron
o Decision about orchidectomy vs orchidopexy is based on the extent of damage to testicular tissue
o During surgery, the contralateral testicle is fixed to the posterior wall

Neonates
o Born with torsion - debate about whether surgical intervention is necessary (risk of anaesthesia)
o Born with normal testes but develop torsion - urgent surgical exploration is necessary

o In any case supportive care is necessary: morphine sulfate and ondansetron

Question 41

When would manual de-torsion be considered?

Answer 41

Manual de-torsion may be attempted if surgery is not available within 6 hours

Question 42

What is the supportive care for testicular torsion?

Answer 42

Supportive Care

o Pain relief and sedation
o Anti-emetics
o If there no current scrotal swelling but there are histories of pain and swelling – refer to outpatient with urologist, urgency depends on frequency and duration of episodes

Question 43

What is torsion of the appendix testis? How does it differ to testicular torsion?

Answer 43

• A testicular appendage (Hydatid of Morgagni) is a Mullerian (paramesonephric) remnant usually located on the upper pole of the testis
• Torsion of the testicular appendage is MORE COMMON than testicular torsion
• Pain will develop over days and is NOT as dramatic as testicular torsion
• Scrotal exploration and excision of the appendage is often necessary because it CANNOT be reliably differentiated from testicular torsion

Question 44

Define epididymo-orchitis.

Answer 44

Inflammation of the epididymis (epididymitis) or testes (orchitis)

Question 45

When is epidymo-orchitis more common?

Answer 45

More common in infants and small children and more likely with a pre-existing urological or anorectal malformation

Question 46

What causes epididymo-orchitis?

Answer 46

Causes

• Bacterial

If sexually active: Chlamydia trachomatis, Neisseria gonorrhoea, Mycoplasma genitalium

Non STI: E coli, TB, brucella

• Viral

Mumps orchitis

• Fungal

Candida

• Idiopathic

Question 47

What are the clinical features of epididymo-orchitis?

Answer 47

Painful, swollen and tender testis or epididymis

Sudden onset but less acute than torsion

Penile discharge

Dysuria

Question 48

What are the investigations for epididymo-orchitis?

Answer 48

• Clinical examination
• Bloods
• Doppler ultrasound to look at flow pattern in testicular blood vessels may be helpful
• Urine sample should be obtained to identify an associated UTI
• Pus should be sent at operation to microscopy

Question 49

What is the management if epididymo-orchitis?

Answer 49

• Symptomatic Relief

o Bed rest
o Scrotal elevation
o Simple elevation
o If systemically unwell with a high-grade fever, IV antibiotics and fluids are required

• Eradication of Infection
o Empirical antibiotics

o Gonococcal or chlamydia - ceftriaxone + doxycycline
o Enteric organisms - quinolone (e.g. ofloxacin, levofloxacin)

o Mumps-supportive

• Prevention of complications
o Prompt treatment and supportive measures
o Possible complications: abscess formation, infertility, chronic pain