32 Genital anomalies

Absence of upper wall of urethra. Frequency ~1 in 30,000. Urethra opens onto the dorsum of the glans penis or penile shaft as an epithelial-lined groove.

Termination of urethra ventral and posterior to its normal opening. Frequency 1 in 160–1800. Orifice found anywhere from the usual site (with backward extension) to the perineum. Often associated with other local anomalies (e.g. redundant prepuce, absent frenum, meatal stenosis).

Non-tender cord-like firm swelling in coronal sulcus. Probably related to sexual trauma (prolonged or frequent intercourse). May be associated with preputial oedema. Self-limiting (usually within days, up to 3 weeks); just requires reassurance.

Strangulation of the glans penis by retracted prepuce. Usually results from partially phimotic prepuce which has been retracted and cannot be reduced. However, may follow trauma with swelling of the glans (e.g. from vigorous sexual activity) with a retracted normal calibre prepuce. Requires urgent intervention either by manual reduction (using anaesthetic cream and ice to reduce oedema) or by surgical intervention to prevent 2° infection and gangrene.

Fibrous infiltration of the penile intracavernous septum. Leads to plaque formation, causing curvature and angulation of the erect penis. Cause unknown but associated with trauma, diabetes mellitus, and Dupuytren’s contracture. Medical treatments with proven control-matched benefit include intralesional collagenase, verapamil, interferon, and oral acetyl/propionyl-L-carnitine, colchicine. There are no data to support the use of vitamin E, para-aminobenzoate, intralesional corticosteroids, or laser therapy. If severe, the plaque can be removed surgically (but reduction in penile length).

Tight constriction of the prepuce preventing retraction over the glans penis. Aetiology includes the following.

Surgical referral for circumcision may be required.

Pathologically prolonged erection without libido. May be associated with blood disorders (e.g. sickle-cell disease, leukaemia), drugs used to manage erectile dysfunction, and rarely infection (e.g. gonorrhoea). ►Failure to achieve detumescence using ice packs requires urgent urological referral.

Commonly detected as incidental findings or raised by concerned patient, especially those aged >40 years. Usually <1cm in diameter and filled with spermatozoa (spermatoceles) or serum (epididymal cysts); therefore they transilluminate well. They arise from the epididymis (not testis) and generally reassurance can be given. If large or painful, they can be aspirated by needle, but surgical removal is not advised as there is a risk of sterility. Ultrasonography is recommended for intrascrotal lumps or swellings where malignancy is considered.

Open dorsal or ventral to urethra and are usually rudimentary blind tracts, although they may terminate in bladder or posterior urethra. Accessory peri-urethral ducts are commonly found in ♂ opening into or around the meatus and are blind tracts extending from 2 to 10mm.

Dilatation and tortuosity of the veins of the scrotal pampiniform plexus (along the spermatic cord). 10–17% of young ♂ affected, with spontaneous regression common. Swollen veins within the scrotum are bluish and feel like a ‘bag of worms’. Most commonly diagnosed because of sterility in ♂ but ~67% of ♂ with varicoceles are fertile. Generally no treatment is required, although further assessment and surgical intervention should be considered if clinically apparent and concerns about infertility.

Cysts arise following obstruction of the drainage duct, whereas abscesses are caused by local pathogens, most commonly Neisseria gonorrhoeae (up to 80% of abscesses) but also Chlamydia trachomatis, staphylococci, streptococci, and Gram-negative enteric bacteria. Found most commonly in ♀ aged 20–29 years with abscesses occurring about 3× as commonly as cysts. Most small abscesses respond well to appropriate antibiotics, although needle aspiration may be required. Chronic or recurrent cysts may require duct catheterization or marsupialization. In ♀ >40 years cyst edges should be examined histologically to exclude carcinoma. Recurrences may occur in up to 20%.

Often an incidental finding during routine examination but may present with post-coital or intermenstrual bleeding. Red fleshy cervical projections, ~1–2cm long, containing both squamous and columnar cell epithelium. Found more commonly in multiparous ♀ >20 years, and may be associated with chronic local inflammation. 1.7% are malignant and 27% are associated with an endometrial polyp. Usually removed by gently twisting the base (which should be sent for histology to exclude malignancy). Excision with basal electrocautery or laser vaporization may be required for larger lesions.

Seen uncommonly in ♀ at GUM clinics. Epispadias is rare and usually severe; diagnosed in childhood. Abnormalities in vaginal development, unless minor, are likely to present at a younger age, including puberty if the menstrual flow is impeded (e.g. atresia or septal obstruction). It is estimated that vaginal malformations arise in 1/4000–10,000 ♀ births. Septa may be seen which are vertical (transverse) or lateral (longitudinal).

May be found anywhere along the length of the vagina. Usually present in the teens with cryptomenorrhoea, cyclical abdominal pain, and haematocolpos. Partial vertical septa may be seen as an incidental finding but can obscure the cervix and may cause dyspaerunia.

More common and often asymptomatic. The septum may create two vaginal passages (one usually larger) leading to a didelphic uterus with twin uterine cavities and cervices opening to each vagina. Important to sample both cervices when screening.

Illegal in the UK. It is estimated that 74,000 first-generation immigrant ♀ have undergone FGM, especially those from Africa, north of the equator excluding Arabic speaking countries other than Egypt. Although associated with some Muslim communities, it is not exclusively linked with Islam.

There are three forms of FGM.