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Female Genitourinary Abnormalities

Vestibular anomalies

• Urethral prolapse: presents with underwear spotting, visible as doughnut-shaped mass with meatus at center, manage with topical steroids/estrogens, excision, or sitz baths, non-surgical management has 67% recurrence rates
• Urethral polyp: rare interlabial mass, treat with excision
• Paraurethral cyst: originate from Skene duct, displace urethral meatus with abnormal urinary stream, can perform needle drainage (otherwise resolve spontaneously)
• Mesonephric duct remnant: originate from Gartner duct (incomplete Wolffian duct regression), may have ectopic ureteral drainage, can inject contrast retrograde to assess anatomy, may require heminephrectomy if severely dysplastic or nonfunctional
• Prolapsed ureterocele: may prolapse via urethra during urination, diagnose with exam and renal US, manage with needle decompression or incision, then catheter placement
• Ectopic ureter: may insert distal to urethral sphincter, causes diurnal incontinence with otherwise normal void pattern

Vaginal anomalies

• Imperforate hymen: may be diagnosed at birth (retained fluid) or during adolecence (amenorrhea + cyclic abdominal pain), identify bluish bulging hymen, treat with transverse incision in neonate, excise under anesthesia in teenager
• Imperforate hymen: failure of urogenital sinus and mullerian ducts to fuse/canalize, presents with amenorrhea + distended upper vagina, MR helpful to determine presence/absence of cervix, can delay surgery with hormonal suppression of menstrual cycle, definitive management with surgical repair
• Vaginal atresia: urogenital sinus fails to form distal vagina, normal mullerian structures (not present in AIS), presents with shallow vaginal dimple, manage with pull-through surgery and skin flaps
• Vaginal agenesis / Mullerian aplasia / MRKH syndrome: absent proximal vagina +/- uterus in otherwise normal (phenotypic/chromosomal/hormonal) female, 1/3 have urinary abnormalities
• Cervical atresia: can be managed with anastomosis of vaginal remnant to uterus with subsequent pregnancy (managed with C-section), but risk for ascending infections

Lateral fusion abnormalities

• Uterine didelphys: two separate uteri and cervices
• Duplication with unilateral imperforate vagina (Herlyn Werner Wunderlich syndrome): rare, cyclic abdominal pain with normal menses, lateral bluish vaginal bulge, may have complete or incomplete obstruction, manage with incision of vaginal septum

Neovagina tips

• Goals: ability to achieve intercourse, able to use largest dilator without discomfort, or vaginal length > 7cm - achieved with vaginal dilation + perineal pressure
• Tissue: create from skin, intestine, muscle flaps, or labia majora
• Important to have patient talk to someone who previously underwent procedure

Acquired disorders of female genitalia

• Labial adhesions: seen in 0.6-1.8%, occurs posteriorly and advances towards clitoris, spontaneously resolve in 80% within 1yr, otherwise can treat with topical estrogen and traction or surgical revision
• Female circumcision: no medical indication, can result in chronic pain +/- UTI +/- dyspareunia +/- fistula, severity ranges from clitoral excision to complete obstruction of vestibule
• Inguinal hernia: 1% chance of cAIS, vaginoscopy to assess cervical presence/absence is more cost effective than pelvic US or karyotype, can also perform inguinal laparoscopy - round ligament and mullerian structures will be absent in genetic males

Penile Abnormalities

Phimosis

• Physiologic at birth, separates over time due to smegma production and intermittent erections
• Foreskin easily retractable in 90% by 3yo and > 99% by 17yo
• Avoid forceful foreskin retraction, can cause scarring and pathologic phimosis
• Circumcision indications: persistent or secondary phimosis, balanitis, posthitis, BXO, recurrent UTIs
• Balanitis Xerotica Obliterans (BXO): can treat with steroids or circumcision, may require reconstruction if meatus involved, 20% meatal recurrence
• Steroids: apply topical betamethasone 0.05% BID-TID with gentle manual retraction, usually responds within 2-8 weeks (50-90% success) but often regress once treatment stopped
• For details on circumcision technique and considerations, see separate section

Paraphimosis

• Can cause glans gangrene if not reduced
• Conservative treatments: manual compression (with coban), iced glove for 5 minutes
• Next steps: perform penile block, consider puncturing holes in edematous foreskin
• Last steps: may require dorsal slit or circumcision for treatment

Hypospadias

Evaluation/Considerations

• Exam Triad: ectopic ventrally located meatus, ventral penile curvaturee, incomplete dorsally hooded foreskin
• Associated conditions: hydrocele/hernia (9%), and cryptorchidism (9-30%)
• DSD testing: obtain US, karyotype, hormone labs if undescended testis or micropenis in the setting of proximal hypospadias
• Megameatus intact prepuce: <1% hypospadias, normal foreskin, meatus anomaly only noted when attempting circumcision, does not require repair (but can be offered)
• Prostatic utricle: often enlarged, can make catheterization difficult, may need coude
• Imaging: usually not required, but renal/bladder US recommended if multiple other congenital anomalies

The Inconspicuous Penis

• Buried penis: normal penis hidden under fat pad, due to obesity/scarring, can treat depending on cause with weight loss or scar repair, avoid reconstruction until puberty due to potential normal loss of fat pad during puberty
• Webbed penis: scrotal skin extends onto ventral penis, can repair by fixing skin to ventral penile base, occasionally may require ventral repair of hypoplastic distal urethra
• Micropenis: > 2.5 SD below average stretched length for age, obtain karyotype and serum T if diagnosed at birth, can attempt treatment with short course of testosterone

Penile Masses

• Evaluation: assess duration, location, prior surgeries, and changes in size to help determine origin
• Parameatal urethral cyst: rare, excise cyst, avoid meatal stenosis
• Median raphe cyst: epidermal cyst, can observe if asymptomatic, otherwise can resect
• Inclusion cyst: occur due to epithelium within subQ tissue, seen after penile surgery
• Congenital nevus: superficial and benign, but should be removed
• Juvenile xanthogranulomas: benign and self-limiting, pigmented nodules 2-20mm, firm/rubbery, can observe to avoid surgery

Miscellaneous

• Aphallia: rare (1 per 10-30mil), absent penile shaft with anteriorly displaced anus, usually associated with other GU abnormalities, assess karyotype
• Diphallia: rare (1 per 5mil), spectrum of presentation and associated GU conditions, obtain RUS and VCUG
• Lymphedema: can observe, but may require removal of all affected tissue and placement of graft/flap
• Neonatal priapism: spontaneously resolves in 2-6 days without treatment
• Balanoposthitis: inflammation usually from fungal or irritative source, treat with topical steroid and antifungal cream, usually no PO meds required, consider further workup if symptoms persist
• Hypospadias, chordee, and torsion: see separate surgery page

Cryptorchidism

Definitions

• Inguinal hernia: testis not in normal scrotal position, may be palpable
• Agenesis: testis never formed, may have ipsilateral mullerian duct persistence
• Vanishing: testis initially present but lost due to torsion or vascular injury
• Acquired cryptorchidism: initially scrotal, now it's not
• Secondary cryptorchidism: suprascrotal testis after inguinal/scrotal surgery
• Retractile testis: testis that retracts but can be brought down into scrotum
• Ectopic: passed through inguinal ring but not found in scrotum, may be perineal, prepenile, or femoral

Risk factors and prevalence

• Overall prevalence at birth: 1-4%
• Spontaneous descent: 50-87% by 3mo
• Familial risk: 10x in twins, 3.5x in brothers, 2.3x in offspring
• Associated syndromes: Klinefelter, Eagle-Barrett, CP, hernias
• Laterality: right side more common
• Absence: 20% present with a nonpalpable testis, 25% of these patients do not have any testis found during surgery (75% will have intraabdominal or inguinal testis)

Workup

• Testes that do not descend by 6mo are unlikely to descend spontaneously
• Exam tips: most accurate way to diagnose, sitting frog-leg preferred over supine, palpate from ASIS down to scrotum, can use lubricant jelly to help with palpation, may see testis "pop" from scrotum to inguinal region, hemiscrotum may appear abnormal if testis did not descend
• General workup: hormones (T, LH, FSH) and imaging (scrotal US) not recommended/required for otherwise normal patient
• DSD workup: consider if bilateral congenital cryptorchidism, especially if hypospadias also present
• Hormonal workup: consider if bilateral nonpalpable testes in absence of CAH (assess for anorchia)
• Contralateral testis size w/ volume > 2mL is 72% sensitive and 100% specific for vanishing testis
• Risks: 8-30x increased risk of testis cancer (x2 if orchiopexy performed after 12yo), reduced fertility chances (90% if unilateral, 60% if bilateral)

Management

• Timing: give at least 6mo for testis to descend, otherwise pexy by 12mo to allow for spontaneous descent and maintain normal growth while minimizing cancer/fertility risks
• Hormonal therapy: not recommended to treat cryptorchidism
• Surgical findings for nonpalpable testes: abdominal/transinguinal (25-50%), vanishing (15-40%), extraabdominal (10-30%)
• Fowler-Stephens: transection of spermatic vessels and testicular mobilization, can be performed staged 6mo apart
• Empiric contralateral orchiopexy: recommended by some, but risk for torsion appears to be minimal
• Orchiectomy: recommended for abdominal testes diagnosed at puberty due to cancer risk and poor spermatogenesis (minimal benefit to orchiopexy)

Management options

	If...	Then...
Palpable	Unable to position in scrotum	Scrotal/inguinal orchiopexy
	Retractile	Annual exam (then observe vs pexy)
Non-palpable	Palpable under anesthesia	Scrotal/inguinal orchiopexy
	Non-palpable under anesthesia	Diagnostic laparoscopy
	Blind-ending spermatic vessels (vanishing testis)	Unilateral testis protection during sports
	Intraabdominal testis	1 vs 2 stage orchiopexy
	Vessels entering inguinal ring	Inguinal exploration, assess for nubbin

Scrotal Abnormalities

Testicular Torsion

• Usually presents with tenderness, abnormal orientation, high-riding testis, absent cremasteric reflex
• TWIST Score: swelling (2pts), hardness (2pts), N/V (1pt), high riding testis (1pt), absent cremasteric (1pt) - if 0-2 pts, no US (low risk), if 3-4 pts, obtain US (intermediate risk), if 5-7 pts, detorse in OR (US not required, high risk)
• Time is testis: risk for orchiectomy increases with increased delay from symptom onset to surgery, almost always salvagable before 6hr, almost always dead after 24hr
• Intermittent torsion: high degree of suspicion based on symptoms, treat with bilateral orchiopexy
• Perinatal torsion: occurs extravaginally (fixation has not yet occurred), can consider immediate salvage vs observation

Other causes of scrotal pain

• Appendix Testis/Epididymis torsion: most common cause of scrotal pain in prepubertal children, blue dot sign rare, treat conservatively
• Epididymitis: may be infectious or other causes, usually slower onset than torsion, obtain RUS/VCUG if prepubertal with positive UCx, encourage normal voiding if chemical epididymitis
• Idiopathic edema: color doppler may show hypervascularity of scrotal wall (Fountain sign), consider antihistamines, usually spontaneously resolves
• Henoch-Schonlein purpura: scrotum involved in 2-38%, may require scrotal exploration if concern for testicular torsion

Hernias/Hydroceles

• Persistent processus vaginalis allows either fluid (hydrocele) or abdominal contents (hernia) to enter inguinal canal and scrotum
• Intermittent bulge: reducible inguinal hernia or communicating hydrocele, vs scrotal/cord hydrocele
• Incarcerated hernia: persistent/large bulge without spontaneous reduction, evidence bowel obstruction
• Diagnosis: made clinically (parental history and exam), can bring in photos if not seen on exam, no imaging required to plan surgery
• Hydrocele and neonatal bowel will transilluminate
• Hernias require elective require unless nonreducible
• Repair hydrocele if persistent beyone 1yo or enlarging/fluctuating
• Contralateral hernia: seen in up to 60%, perform inguinal laparoscopy at time of repair and fix contralateral side if hernia confirmed
• For surgical technique, see separate section
• Abdominoscrotal hydrocele: scrotal component extends through inguinal canal and can compress structures, can cause lower extremity edema and hydronephrosis, best treated by scrotal approach (per Xu et al JPU 2020)

Special hernia circumstances

• cAIS: 2-3% female inguinal hernias will have testes present at time of repair, current recommendation is to maintain in inguinal region (do not remove) to allow for natural hormone production and self-exams
• Increased intraabdominal pressure: hydrocele/hernia less likely to resolve if child is on peritoneal dialysis or VP shunt, contralateral repair warranted
• Hernia Uteri Inguinale: persistent Mullerian duct structures may herniate into scrotum, can consider removal at time of repair
• Connective tissue disorders: hernias may be more common in these patients, hernia diagnosis may precede diagnosis of syndrome

Varicocele

• Grading: 0 (subclinical, US only), 1 (palpable with Valsalva), 2 (palpable but not visible), 3 (visible)
• Consider CT/US if varicocele does not decompress in supine position
• Surgical indications: testicular asymmetry, left/bilateral hypotrophy, pain, abnormal semenalysis or intratesticular varicocele (1-2% cases)

Congenital anomalies

• Penoscrotal transposition: usually seen with other GU abnormalities, can repair with skin flaps
• Bifid scrotum: no median raphe, seen with proximal hypospadias, can perform Z-plasty
• Ectopic scrotum: rare, obtain renal US, can perform scrotoplasty and/or orchiopexy
• Scrotal agenesis: rare (7 cases)
• Scrotoschisis: meconium peritonitis causes scrotal rupture and testicular extrusion, treat with orchiopexy and scrotal closure
• Polyorchidism: supernumerary testis, more common on left side, often associated with cryptorchidism
• Splenogonadal fusion: continuous union of spleen and gonad, associated with cryptorchidism