Table 1 Congenital malformations of the female genito-urinary tract, their inclusion in the embryological and clinical classification (Acién and Acién, 2011) and in other classification systems of female genital malformations (AFS/ASRM, 1988; ESHRE/ESGE, 2013) and clinical presentation

1. Agenesis or hypoplasia of one urogenital ridge including unicornuate uterus with contralateral RA and the atypical Rokitansky syndrome.

Group I: I.1. Rokitansky syndrome with URA (if contralateral Müllerian agenesis)

I.2. Unicornuate uterus with contralateral RA

Class Ie (utero-vaginal agenesis). Additional findings: URA.

Class II (unicornuate uterus). Additional findings: URA

U5 (aplastic)/C4 (cervical aplasia)/V4 (vaginal aplasia). Associated non-Müllerian anomalies: URA.

U4 (hemiuterus)/C0/V0. Associated anomalies: URA

Primary amenorrhoea

No symptoms.

Reproductive. Breech

2. Distal mesonephric anomalies, including URA and ipsilateral blind or atretic hemivagina syndrome, showing:

Group II: All distal mesonephric anomalies: Uterine duplicity with blind hemivagina (or atresia) and URA (sometimes ectopic ureter and renal dysplasia or other ipsilateral renal anomalies)

Class III, IV or V (didelphus, bicornuate or septate uterus). Additional findings: vagina, cervix, kidneys

U3 or U2 (bicorporeal or septate uterus)/C1, C2 or C3 (septate, double or unilateral cervical aplasia)/V2, V1 or V0 (obstructing, non-obstructing vaginal septum or normal vagina). Associated non-Müllerian anomalies: URA, ectopic ureter

Girl, adolescent or young women presenting:

2A. Obstructed or blind hemivagina with large haematocolpos (Wunderlich syndrome).

II.1 Didelphys or bicornuate (rarely septate) uterus with blind hemivagina and ipsilateral RA (sometimes ectopic ureter and renal dysplasia or other ipsilateral renal anomalies)

Class III, IV or V (didelphus, bicornuate or septate uterus). Additional findings: vagina, cervix, kidneys

U3 or U2 (bicorporeal or septate uterus)/C2, C1 (double, or septate cervix)/V2 (longitudinal obstructing vaginal septum). Associated non-Müllerian anomalies: URA, ectopic ureter

Pelvic pain. Acute urinary retention.

Intra- and postmestrual dysmenorrhoea.

Pelvic cystic mass.

Postmenstrual spotting

2B. A Gartner duct pseudocyst in the upper anterolateral wall of the vagina (Herlyn-Werner syndrome).

II.2 Bicornuate communicating uterus with athretic blind hemivagina and ipsilateral RA (sometimes ectopic ureter or mesonephric remnants)

Class IVb (partial bicornuate uterus). Additional findings: vagina, cervix, kidneys

U3a (partial bicorporeal uterus)/C3 (unilateral cervical aplasia)/V2 (longitudinal obstructing vaginal septum)^a. Associated non-Müllerian anomalies: URA, ectopic ureter

Pain? Cysttic mass in anterolateral wall of vagina. Postmenstrual spotting or coital-related vaginal discharge

2C. A short vaginal septum or a communicating buttonhole

II.3 Didelphys or bicornis-bicollis uterus with a short vaginal septum or buttonhole due to partial reabsorption of the intervaginal septum and URA

Class III or IVa (didelphus or bicornuate uterus). Additional findings: vagina, cervix, kidneys

U3b, U3c (bicorporeal uterus)/C2 (double ‘normal’cervix)/V1 (longitudinal non-obstructing vaginal septum. Associated non-Müllerian anomalies: URA, ectopic ureter

No symptoms.

Dyspareunia.

Reproductive. Breech presentations. Obstetrical complications

2D. Bicornuate-unicollis communicating uterus with with an anomalous horn and ipsilateral URA

II.4 Bicornis-unicollis communicating uterus with unilateral cervicovaginal atresia and ipsilateral RA

Class IVb (partial bicornuate uterus). Additional findings: URA

U3a (partial bicorporeal uterus)/C3 (unilateral cervical aplasia)/V0 (normal vagina)^b. Associated non-Müllerian anomalies: URA

No symptoms.

Reproductive. breech presentation. Obstetrical compluications

2E. Didelphys or unicornuate uterus with unattached and cavitated rudimentary horn, unilateral cervicovaginal atresia and ipsilateral URA

II.5 Didelphys (ultrasound, MR) or unicornuate uterus with contralateral unattached and cavitated rudimentary horn, unilateral cervicovaginal atresia and ipsilateral URA

Class III (didelphus) or IIb (unicornuate uterus, non-communicating). Additional findings: URA

U3b or U4a (complete bicorporeal uterus)/C3 (unilateral cervical aplasia)/V0 (normal vagina)^c. Associated non-Müllerian anomalies: URA

Pain. Symptoms as endometriosis. Endometriomas. Increasing dysmenorrhoea after surgery, adnexectomy

3. Isolated Müllerian anomalies (without urinary tract anomalies)

Group III. Isolated Müllerian anomalies affecting the ducts, tubercle or both elements

Class I to class VII

Class U1 to Class U5/C0, C1, C2, C4/V0, V1, V3, V4

Common uterine or uterovaginal anomalies.

3A. Müllerian agenesis, including typical Rokitansky syndrome (sometimes with a cavitated rudimentary horn)

III.A1,C. Müllerian agenesis and complete uterovaginal agenesis, Rokitansky or MRKH syndrome. Sometimes with a cavitated rudimentary horn

Class I. Hypoplasias/agenesis: vagina, cervical, fundal, tubal and combined

U5 [Aplastic uterus (a) with a rudimentary cavity or (b) without a rudimentary cavity]/C4 (cervical aplasia)/V4 (vaginal aplasia)

Primary amenorrhoea. Difficulty with sexual intercourse or infertility.

Eventual endometriosis and cryptomenorrhoea

3B. Unicornuate uterus (sometimes with cavitated non-communicating uterine horn; then externally bicornuated and sometimes septated)

III.A2. Unicornuate uterus (or externally bicornuated) with atretic cavitated or non-cavitated rudimentary horn, or segmentary atresia or ‘unilateral Rokitansky’

Class II. Unicornuate. (a) communicating, (b) non-communicating, (c) no cavity, (d) no horn

U4 [hemiuterus (a) with a rudimentary cavity, communicating or not, or (b) without a rudimentary cavity or no horn]/C0/V0

Reproductive.

Breech presentation.

Intra- or postmenstrual dysmenorrhoea. Pelvic pain. Endometriosis?

3C. Didelphys uterus (generally with double cervix and vagina)

III.A3. Didelphys uterus

Class III. Didelphus

U3 (complete bicorporeal uterus)/C2 (double ‘normal’ cervix)/V1 (longitudinal non-obstructing vaginal septum)

Dyspareunia?

Reproductive. Breech presentation

3D. Bicornuate uterus (eventually with a non-communicating cavitated uterine horn)

III.A4. Bicornuate uterus: bicornis-bicollis uterus and bicornis-unicollis uterus

Class IV. Bicornuate: (a) complete; (b) partial

U3 [bicorporeal uterus: (a) partial, (b) complete, (c) bicorporeal septate]/C0, C1, C2/V0, V1

Reproductive losses.

Breech presentation

Retrograde menstruation?

3E. Septate uterus (eventually with a non-communicating cavitated uterine horn, Robert’s uterus)

III.A5. Septate and subseptate uterus

Class V. Septate: (a) complete, (b) partial

U2 [septate uterus: (a) partial, (b) complete]/C0, C1, C2/V0, V1

Reproductive losses. Breech

Eventually hemihaematometra?

3 F. Arcuate and hypoplastic uterus (including DES syndrome and tricavitated uterus)

III.A6. Arcuate uterus

III.A7. Anomalies related to DES syndrome. Hypoplastic, T-shaped and tricavitated uterus

Class VI. Arcuate

VII. DES drug related

U1 [dysmorphic uterus: (a) T-shaped, (b) infantilis, (c) others]/C0/V0

Reproductive losses? Infertility

3G. Complete vaginal or cervico-vaginal atresia with normal uterus

III.B1. Anomalies affecting Müllerian tubercle: Complete vaginal or cervico-vaginal agenesis or atresia

Class I. Hypoplasis/agenesis: (a) vaginal, (b) cervical

U0 (normal uterus)/C4 (cervical aplasia)/V4 (vaginal aplasia)

Primary amenorrea. Pelvic pain. Cryptomenorrhoea. Endometriosis

3H. Transverse vaginal septum

III.B2. Segmentary atresias. Complete or incomplete transverse vaginal septum

Not included

Additional findings: vagina

U0/C0/V3 (transverse vaginal septum and/or imperforate hymen)

Primary amenorrhoea and cryptomenorrhoea. Pelvic pain, haematocolpos.

Dyspareunia?, Obstetrical problems?

4. Accesory and cavitated uterine masses with normal uterus (ACUMs)

IV. Accesory and cavitated uterine masses and other gubernaculum dysfunctions

Not included

Not included

Pelvic pain. Severe dysmenorrhoea from menarche. Tumour?

5. Anomalies of the urogenital sinus

Group V. Anomalies of the cloaca and urogenital sinus Congenital vesico-vaginal fistula. Cloacal exstrophy.

Not included

Not included

5A. Imperforate hymen

V.1. Imperforated hymen

Not included

U0/C0/V3 (transverse vaginal septum and/or imperforate hymen)

Primary amenorrhoea. Cryptomenorrea. Pelvic pain. Haematocolpos

5B. Congenital vesico-vaginal or vagino-vesical fistula (pseudo-lower vagina atresia)

V.2. Congenital vesico-vaginal fistula

Not included

Not included or U0/C0/V4 (vaginal aplasia)

Cyclical menuria Urinary incontinence? Pain. Dyspareunia. Hypospadias. Vaginal atresia

5C. Cloacal exstrophy

V.3. Cloacal anomalies. Persistent urogenital sinus

Not included

Not included

Generally paediatric patients. Urinary symptoms and incontinence. Extragenital associated anomalies

6. Malformative combinations

Group VI. Malformative combinations

Not included

U6 (unclassified anomalies). Associated non-Müllerian anomalies

Variable