Clinical Problems in Pediatric Urology

Edited by Prasad Godbole, John P. Gearhart, Duncan T. Wilcox

Copyright 2006 by Blackwell Publishing Ltd

15 Female Genital Anomalies

Duncan T. Wilcox

CASE 1
A 3-year-old girl has been brought by the parents with a history that, while
changing the nappies, her mother noticed abnormal female genitalia.

Fig. 15.1

1
2
3
4

Describe the ndings in the above picture.

What is the possible diagnosis and differential diagnosis?
What are the other modes of presentation?
What are the different treatment options available?

Discussion
1 The picture shows fused labia. The urethral meatus and vaginal introitus
are completely hidden under the labia.
2 This condition is called fused labia or labial adhesions and is common
in newborns and during early childhood. Trauma, supercial infection,
and chemical irritation from the perineal wetness have been implicated.
Denudation of the delicate, poorly estrogenized labial epithelium allows

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subsequent agglutination. A careful, gentle, and detailed examination is

important to reveal the anatomy. Sometimes the complete labial fusion
without the thin membrane results in a single orice and should raise the
suspicion of a urogenital sinus. Vulval changes with labial adhesions raise
the possibility of sexual abuse.
3 Usually the adhesions are asymptomatic. The urine trapped in these labial
folds may act as a source for urinary tract infection (UTI), postmicturition
dribbling, or urinary incontinence.
4 In general, labial adhesions do not warrant treatment and resolve on their
own during puberty under the inuence of the estrogen. Symptomatic or
bothersome adhesions can be treated with regular application of estrogen
cream (0.1%) 3 times daily for at least 2 weeks. After separation, Vaseline
should be applied daily for another month. Rarely, the adhesions need
separation under anesthesia. There is a high chance of recurrence.

Suggested reading
Bacon JL. Prepubertal labial adhesions: evaluation of a referral population. Am J Obstet
Gynecol. 2002;187(2):32731; discussion 332.
McCann J, Voris J, Simon M. Labial adhesions and posterior fourchette injuries in childhood sexual abuse. Am J Dis Child. 1988;142:65963.
Nurzia MJ, Eickhorst KM, Ankem MK, Barone JG. The surgical treatment of labial adhesions in pre-pubertal girls. J Pediatr Adolesc Gynecol. 2003;16(1):213.
Opipari AW Jr. Management quandary. Labial agglutination in a teenager. J Pediatr Adolesc Gynecol. 2003;16(1):612.
Papagianni M, Stanhope R. Labial adhesions in a girl with isolated premature thelarche:
the importance of estrogenization. J Pediatr Adolesc Gynecol. 2003;16(1):312.
Thibaud E, Duos C. Plea for child: labial agglutination should not be treated [in French].
Arch Pediatr. 2003;10(5):4656.

CASE 2
A 14-year-old girl is complaining of recurrent cyclical abdominal pain. A
detailed history reveals she is still not menstruating. Examination ndings
are shown in Fig. 15.2.
1 What is the probable diagnosis? And what is the other mode of presentation?
2 What is the embryological reason for this anomaly?
3 What imaging is required for diagnosis?
4 What is the treatment option?

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Case 2

Fig. 15.2

Discussion
1 This condition is called as imperforate hymen. The cyclical pain is due to
the accumulation of the menstruating uid into the vagina. This condition
can present as a hydrocolpos or mucocolpos (abdominal mass) due to the
accumulation of secretions (blood, mucus) in the vagina. In the newborn
period this may present as a hydrocolpos due to accumulation of secretions
under the inuence of the maternal estrogen.
2 It results from the failure of distal canalization of the vaginal plate at the
junction between the urogenital sinus and the vagina.
3 The diagnosis is clinical, but an ultrasound scan of the abdomen is helpful
to see the hydrometrocolpos, seen as a pelvic cyst. Sometimes there is mild
bilateral hydronephrosis due to secondary compression.
4 Incision of the hymeneal membrane (hymnectomy) is adequate to drain
the secretion and treat this condition. There are recent reports of treatment
of this condition with balloon dilation.

Suggested reading
Ali A, Cetin C, Nedim C, Kazim G, Cemalettin A. Treatment of imperforate hymen by
application of Foley catheter. Eur J Obstet Gynecol Reprod Biol. 2003;106(1):725
Joki-Erkkila MM, Heinonen PK. Presenting and long-term clinical implications and fecundity in females with obstructing vaginal malformations. J Pediatr Adolesc Gynecol.
2003;16(5):30712.

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Liang CC, Chang SD, Soong YK. Long-term follow-up of women who underwent surgical
correction for imperforate hymen. Arch Gynecol Obstet. 2003;269(1):58.
Lim YH, Ng SP, Jamil MA. Imperforate hymen: report of an unusual familial occurrence.
J Obstet Gynaecol Res. 2003;29(6):399401.
Wall EM, Stone B, Klein BL. Imperforate hymen: a not-so-hidden diagnosis. Am J Emerg
Med. 2003;21(3):24950.

CASE 3
A 2-year-old girl is referred by the general practitioner, because the parents
have noticed a prolapsing interlabial mass. Examination reveals a soft redcoloured cystic mass prolapsing through the introitus.

Fig. 15.3

1 What is the likely diagnosis, and what is the differential diagnosis?

2 What further imaging is needed?
3 How do you treat this girl, and what are the different options available for
the other interlabial masses?

Discussion
1 The differential diagnosis of the interlabial mass are prolapsed ureterocele, prolapsed urethra, urethral polyp, paraurethral cyst, and sarcoma
botryoides.
Large ectopic ureteroceles associated with the upper pole of the duplex
kidney are prone to prolapse. The prolapsed ureterocele is usually cystic
and covered with pink bladder mucosa.

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Case 3

Prolapsed urethra usually presents with blood spotting in addition to the

mass and associated lower tract urinary symptoms. The urethral mucosa
is congested and friable and appears as a purple doughnut encircling the
urethral meatus.
Urethral polyps of the posterior urethra are a rare type of interlabial
mass and are also associated with blood spotting.
Congenital paraurethral cysts are rare and result from the ductal obstruction of the skenes paraurethral gland. These are smooth, soft, and
whitish and sometimes displace the urethral meatus.
Sarcoma botryoides is a polypoid form of embryonal rhabdomyosarcoma. The tumour arises in the bladder, vagina, or, rarely, the uterus. The
polypoid tissue resembles a bunch of grapes.
2 An ultrasound scan of the urinary tract and pelvis is important. Depending
on the denitive diagnosis, further imaging is needed for the management.
Ectopic ureteroceles are usually associated with duplex kidneys; a micturating cystourethrogram to asses the vesicoureteral reux and a DMSA
scan to evaluate the differential function of duplex kidney are necessary.
Prolapsing urethral mucosa, urethral polyp, and paraurethral cyst do
not need further investigations.
Sarcoma botryoides needs a cystovaginoscopy and biopsy to prove the
diagnosis. A computed tomography (CT) scan of the abdomen, pelvis, and
chest is needed for the staging of the disease.
3 Prolapsed ureterocele require a cystoscopy and puncturing of the ureterocele as an immediate treatment and then a denitive treatment depending
on the function of the upper moiety. The upper moiety of the duplex kidney
with this ureterocele is usually nonfunctioning and necessitates an upper
pole heminephrectomy (open or laparoscopic). The risk of urinary incontinence should be explained in this group of patients because of associated
poor development of the bladder neck.
The symptoms of the prolapsed urethra usually resolve with topical
estrogen cream, but persistence of this may need surgical excision of the
prolapsed mucosa.
The urethral polyp needs a simple excision and fulguration of the base.
A paraurethral cyst found in a newborn spontaneously drains within
a few months. If it persists, it needs a simple aspiration or incision and
marsupialization.
Sarcoma botryoides or embryonal rhabdomyosarcoma responds to
chemotherapy well. Reassessment of the tumour burden after chemotherapy and limited resection (organ preserving) surgery are recommended.
The single polypoid lesion of the cervix has a good prognosis, and simple
excision is enough to treat this condition.

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Suggested reading
Behtash N, Mousavi A, Tehranian A, Khanafshar N, Hanjani P. Embryonal rhabdomyosarcoma of the uterine cervix: case report and review of the literature. Gynecol Oncol.
2003;91(2):4525.
Hicks BA, Hensle TW, Burbige KA, et al. Bladder management in children with genitourinary sarcoma. J Pediatr Surg. 1993;28(8):101922.
Klee LW, Rink RC, Gleason PE, Ganesan GS, Mitchell ME, Heifetz SA. Urethral polyp presenting as interlabial mass in young girls. Urology. 1993;41(2):1323.
Miller MA, Cornaby AJ, Nathan MS, Pope A, Morgan RJ. Prolapsed ureterocele: a rare
vulval mass. Br J Urol. 1994;73(1):10910.
Nussbaum AR, Lebowitz RL. Interlabial masses in little girls: review and imaging recommendations. AJR Am J Roentgenol. 1983;141(1):6571.
Shari-Aghdas F, Ghaderian N. Female paraurethral cysts: experience of 25 cases. BJU
Int. 2004;93(3):3536.

CASE 4
A newborn girl with a lower abdominal cystic swelling and abnormal perineal anatomy is referred by the pediatrician. On clinical examination there
was a lower abdominal swelling. Examination of perineum revealed a single
opening.
1 Describe the ndings (clinical and radiological) see Fig. 15.4?
2 What are the likely diagnosis and differential diagnosis?
3 What other systems should you examine to complete the evaluation, and
why?
4 What is the emergency treatment for this condition?
5 Describe the denitive management of this condition.
6 What information will you give the parents regarding the long-term consequences?

Discussion
1 The clinical picture shows a single perineal opening, and there is no separate opening of the urethra, vagina, and the anus. The genitogram shows
a common channel.
2 The likely diagnosis in this case is cloaca, i.e. a single channel of the
genital tract, the urinary tract, and the rectum. The abdominal swelling
(hydrometrocolpos) is the distended vagina due to the retrograde lling
by the urine and secretions from the endometrium under inuence of the
maternal estrogen. In patients with urogenital (UG) sinus there is a common channel of the urethra and the vagina but a separate opening for the

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Case 4

Fig. 15.4

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Chapter 15 Female Genital Anomalies

anus. UG sinus abnormalities may occur with congenital adrenal hyperplasia (CAH). With widespread expertise in antenatal scan, cloaca can be
diagnosed antenatally.
A complete physical examination to rule out dysmorphic features of the
syndromes is important. Cloaca is associated with a multiorgan system
involvement: cardiac (10%), respiratory (5%), spinal (30%), renal (30%),
and limb anomalies. Echocardiography, spinal and renal ultrasound, and
urodynamic studies of the bladder are mandatory to rule out these abnormalities.
Once the child is stable, she needs a defunctioning colostomy and
cystovaginoscopy with suprapubic drainage of hydrometrocolpos for decompression. This condition is best managed at a tertiary center with
multidisciplinary team approach. Once the uid is drained from the
hydrometrocolpos and natural voiding commences, both catheters can
be removed. Rarely, if voiding is not possible, then a clean intermittent
catheterization should be started to drain the common channel.
The denitive management is deferred until 1 year of age. The stepwise
approach involves the initial stage of the posterior sagittal approach to
mobilize the UG sinus with the pull-through (posterior sagittal anorectovaginourethroplasty, or PSARVUP) to create the neourethral, vaginal, and
anal opening. After an interval of about 36 months the defunctioning
colostomy is closed.
This complex abnormality is rare, occurring in 1 in 40,00050,000 live
births. The surgical repair is extremely complex, but the results are satisfactory. Eighty percent of the patients are socially continent of urine and
60% are fecally continent. Urinary incontinence is due to the underlying spinal or bladder abnormality. Fifty percent of these patients develop
chronic renal failure due to the underlying renal abnormalities. The recent literature reports a satisfactory long-term outcome regarding sexual
function.

Suggested reading
De Gennaro M, Rivosecchi M, Lucchetti MC, Silveri M, Fariello G, Schingo P. The incidence
of occult spinal dysraphism and the onset of neurovesical dysfunction in children with
anorectal anomalies. Eur J Pediatr Surg. 1994;4(suppl 1):1214.
Krstic ZD, Lukac M, Lukac R, Smoljanic Z, Vukadinovic V, Varinac D. Surgical treatment
of cloacal anomalies Pediatr Surg Int. 2001;17(4):32933.
Hendren WH. Cloaca, the most severe degree of imperforate anus: experience with 195
cases. Ann Surg. 1998;228(3):33146
Nakayama DK, Snyder HM, Schnaufer L, Ziegler MM, Templeton JM Jr, Duckett JW Jr.
Posterior sagittal exposure for reconstructive surgery for cloacal anomalies. J Pediatr
Surg. 1987;22(7):58892.

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Case 4
Shimada K, Hosokawa S, Matsumoto F, Johnin K, Naitoh Y, Harada Y. Urological management of cloacal anomalies. Int J Urol. 2001;8(6):2829.
Thomas DF. Cloacal malformations: embryology, anatomy and principles of management.
Prog Pediatr Surg. 1989;23:13543.
Warne S, Chitty LS, Wilcox DT. Prenatal diagnosis of cloacal anomalies. BJU Int. 2002;
89(1):7881.
Warne SA, Wilcox DT, Creighton S, Ransley PG. Long-term gynecological outcome of
patients with persistent cloaca. J Urol. 2003;170(4 pt 2):14936.
Warne SA, Wilcox DT, Ledermann SE, Ransley PG. Renal outcome in patients with cloaca.
J Urol. 2002;167(6):254851; discussion 2551.

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