Description – Fusion of labia minor.

Epidemiology – 0.6%–1.8%; usually under age 2 years.

Presentation – Seen on exam or by parent; usually asymptomatic; may cause postvoid dribbling, deviated stream or local irritation.

Treatment – Only if symptomatic; most resolve spontaneously. Topical conjugated estrogen (0.625 mg/g) successful in 90% (side effect: breast budding, skin hyperpigmentation). Manual separation with lubricated probe after lidocaine cream. Recurrence common without continued application of moisturizing ointment.

Description – Circumferential eversion of urethral mucosa.

Epidemiology – Prepubertal black girls and postmenopausal women.

Presentation – Bleeding from mucosa causes blood spotting.

Treatment – Observation, sitz baths, topical corticosteroids, conjugated estrogens. Surgical excision of redundant mucosa for recurrence.

Description – Dilation of periurethral glands (Skene’s glands) just inside urethral meatus. In neonates, respond to maternal estrogen and secrete mucoid material resulting in cyst formation.

Diagnosis – Displaces urethral meatus and produces deviated urinary stream.

Treatment – Frequently rupture spontaneously. If persistent, can drain by needle puncture.

Description – Cystic structure representing incomplete regression of the wolffian duct along the anteromedial wall of the vagina. Can be associated with an ectopic ureter entering into the vagina that fails to rupture.

Treatment – Incised to relieve obstruction; can be injected with contrast to delineate anatomy. Ectopic ureter may drain a dysplastic kidney or an upper pole segment which may lead to incontinence.

Description – Lack of opening in hymenal membrane; can be full of retained vaginal secretions due to maternal estradiol stimulation.

Epidemiology – Most common congenital obstructive anomaly of female reproductive tract.

Diagnosis – Usually at birth, whitish bulge seen; later, identified on exam, or in adolescent with amenorrhea.

Treatment – In newborns, may be incised transversely at bedside. Needle drainage should not be performed. In older child, incision under anesthesia.

Description – Small excess hymenal tissue, often normal finding.

Treatment – If symptomatic (bleeding, causing tugging), excised and sent for pathology.

Description – Can be at various levels, most frequently in the middle and upper third of the vagina. Usually <1 cm thick, may have small perforations.

Epidemiology – 1 in 70,000 females.

Diagnosis – Present with amenorrhea and distended upper vagina. Imagining: transperineal, transrectal, or abdominal ultrasound, and magnetic resonance imaging (MRI). A high transverse septum must be distinguished from congenital absence of a cervix.

Treatment – Surgery may be delayed with hormonal suppression. Septum can be incised, or completely excised with Z-plasties or vaginal mold to prevent vaginal stenosis.

Description – Distal vagina fails to form from urogenital sinus; Müllerian structures not affected.

Diagnosis – Distended vagina may be palpable on rectal exam.

Imaging – Ultrasound and/or MRI used to define Müllerian structures.

Treatment – Transverse incision at the hymenal ring with dissection proximally to upper vagina. Pull-through procedure brings vagina to the introitus, sometimes with skin flaps.

Description – Congenital absence of proximal vagina in otherwise phenotypically, chromosomally, and hormonally intact female. Component of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Two forms: type A (typical) – symmetrical uterine remnants and normal fallopian tubes; type B (atypical) – asymmetrical uterine buds and abnormally developed fallopian tubes, with abnormalities in other organ systems.

Epidemiology – 1 in 5000 live female births.

Diagnosis – Present with amenorrhea. Hymenal ring and small distal vaginal pouch present as these derive from the urogenital sinus.

Imaging – Ultrasound and MRI – delineate remnant Müllerian structures, identify if cervix present, and associated renal or skeletal anomalies.

Treatment – Nonoperative – gradual pressure on perineum with dilators creates progressive invagination of the vagina. Operative – skin or intestinal neovagina or buccal mucosal vaginoplasty. Neovagina connected to uterus only if cervix is present.

Complications – Vaginal stenosis – occurs in skin > ileum neovagina > sigmoid neovagina.

Description – Rhabdomyosarcoma of vagina; best prognosis of female genital tract tumors; primarily embryonal cell type.

Epidemiology – Mean age < 2 years.

Diagnosis – Bleeding or visible mass bulging from introitus, sometimes “grapelike” (botryoid), cluster of tissue.

Imaging – Staging with abdominal/pelvis/chest CT, bone marrow biopsy.

Treatment – Tissue diagnosis by biopsy. Chemotherapy first line, surgery follows for local resection or restaging (see Chapter 11 ).

Description – Enlarged clitoral tissue, usually associated with common urogenital sinus.

Etiology – Usually enzymatic defect in adrenal steroid synthesis producing excess androgen metabolites. Most common – deficiency of 21-hydroxylase or 11-hydroxylase. Also androgen-producing maternal tumors, local growth factor from neurofibromas.

Evaluation – Serum electrolytes, 17-hydroxyprogesterone level, and karyotype.

Treatment – If congenital adrenal hyperplasia (CAH), replacement of glucocorticoids and mineralocorticoids to prevent production of androgens, further stimulation of the external genitalia.

Description – Large ureterocele may prolapse through the urethra.

Diagnosis – Pink or dark purple bulge from urethra; may case urinary retention.

Imaging – Renal and bladder ultrasound (RBUS).

Treatment – Needle decompression or incision and reduction, placement of urethral catheter.

Description – Physiologic in newborns; pathologic later due to chronic irritation from urine or balanitis ( Fig. 9.5 A).

Conditions associated with the uncircumcised penis. (A) Phimosis caused by a preputial ring. (B) Paraphimosis with associated entrapped prepuce behind the glans penis.

Treatment – Spontaneous resolution by 3–4 years in physiologic (due to smegma and erections). If pathologic, treatment with steroid cream first line; circumcision.

Description – Entrapment of the prepuce behind the glans.

Sequellae – Severe edema of foreskin within hours; ischemia of glans if not reduced.

Treatment – Manual reduction after pressure/icing to reduce edema; dorsal slit procedure.

Description – Entrapped sloughed skin cells under unretractable prepuce or under glanular adhesions after circumcision.

Diagnosis – White, round, smooth-walled lesion under skin.

Treatment – Resolution as adhesions open.

Description – Removal of preputial skin.

Risks/Benefits – Benefits: prevention of penile cancer, decreased urinary tract infection (UTI), decrease sexually transmitted diseases. Risks: injury during procedure.

Procedure – Neonatal clamp (Gomco, Mogen, Plastibell), local anesthesia (topical and penile block). Later freehand under general anesthesia.

Complications – 0.2%–5% of boys. Bleeding (0.1%) – Usually from frenulum. Wound infection – rare. Skin separation –appears as loss of penile shaft skin. Topical petroleum-based ointment allows closure, usually a normal outcome. Cicatricial scar or secondary phimosis – skin closes over glans. Treat with betamethasone 0.05% or 0.1% (2–3x daily for 21–30 days).

Description – Attachments of inner prepuce to the glans. Adhesions – cell layer thick. Skin bridges – thicker, epithelialized.

Epidemiology – Common in newborns after circumcision, decreasing incidence with age.

Treatment – Lysis or division in office after topical analgesic; under anesthesia with cautery or sutures if broad or thick bridges.

Description – Narrowing of urethral meatus. Occurs after circumcision.

Presentation – Symptoms: dorsally deflected, narrow urinary stream.

Treatment – Meatotomy – midline ventral incision to enlarge meatusin clinic or in operating room (OR). Meatoplasty – excision of wedge of ventral glans, suture edges of the urethral mucosa to the glans; in OR.

Description – Small blister or cyst near urethral meatus. Cyst wall is transitional and squamous or columnar epithelium.

Treatment – Complete excision.

Description – Chronic inflammatory, infiltrative dermatosis of glans, meatus, and urethra; can cause phimosis.

Presentation – Tight, scarred phimosis, foreskin irritation, discomfort, bleeding; acute urinary retention.

Treatment – For meatus – topical steroids (betamethasone or clobetasol) or systemic tacrolimus. For prepuce: circumcision. After hypospadias repair: excise and replace tissue.

Risks – Recurs in 20%–40%.

Description – Penis enclosed in skin, appears small; normal stretched penile length.

Etiology – Congenital – poor penopubic/penoscrotal fixation of skin. Acquired – obesity or trapping from cicatricial scarring.

Surgical correction – Degloving with removal of fibrous bands. Fix subcutaneous tissue to Bucks fascia at penopubic and penoscrotal junctions. Preputial skin used for ventral skin coverage. Alternative for webbing: transverse incision of scrotal web, vertical closure.

Description – Usually ventral, associated with skin deficiency; also dorsal or lateral.

Etiology – Usually with hypospadias. Congenital lateral curvature from overgrowth or hypoplasia of corporal body.

Surgical Correction – Deglove penis, excise fibrous tissue superficial to Buck fascia. If resolved – skin coverage. If persists- dorsal plication urethral division, and/or corporal grafting (see Hypospadias section). Skin coverage using flaps.

Description – Rotational deformity of the penile shaft, usually counterclockwise. Median raphe spirals around the shaft.

Surgical correction – Penis degloved, glans rotated opposite to defect, skin and dartos sutured to coronal collar. For severe torsion, proximal anchoring sutures or rotational dartos flap.

Description – Cutaneous/strawberry hemangioma most common. Rapid growth for 3–6 months, then most involute. Subcutaneous/cavernous hemangioma – vascular malformation, tends to enlarge over time.

Workup – Color Doppler ultrasound (CDUS), computed tomography (CT), or MRI to delineate size and depth.

Treatment – For cutaneous – short-term oral corticosteroid or propranolol. For subcutaneous – en bloc resection, preoperative angioembolization may reduce size and risk of bleeding.

Description – Impaired lymphatic drainage causing progressive penile/scrotal swelling. Anogenital granulomatomosis – associated with Crohn’s disease.

Epidemiology – Congenital sporadic (85%), inherited (15%), or acquired. 80% present at puberty.

Treatment – Initially observation. Azathioprine has been used. Surgery if significant or progresses: removal of all involved tissue.