Revista Adolescência e Saúde

Revista Oficial do Núcleo de Estudos da Saúde do Adolescente / UERJ

NESA Publicação oficial
ISSN: 2177-5281 (Online)

Vol. 14 nº 1 - Jan/Mar - 2017

Case Report Imprimir 

Páginas 102 a 106


Herlyn-Werner-Wunderlich Syndrome: a pathology that every gynecologist should recognize

Síndrome de Herlyn-Werner-Wunderlich: patología que todo ginecólogo debe reconocer

Síndrome de Herlyn-Werner-Wunderlich: patologia que todo ginecologista deve reconhecer

Autores: Itana Passos1; Renata Victoria Santos de Jesus2; Renata Lopes Britto3; Sabrina Boudoux4

1. Specialist in Gynecology and Obstetrics. Physician, Professor Edgard Santos University Hospital, Bahia Federal University (UFBA). Salvador, Bahia State, Brazil
2. Final Year Medical Student, Salvador University (UNIFACS). Salvador, Bahia State, Brazil
3. PhD in Medicine and Health. Adjunct Professor of Gynecology. Physician, Professor Edgard Santos University Hospital, Bahia Federal University (UFBA). Salvador, Bahia State, Brazil
4. Final Year Medical Student, Salvador University (UNIFACS). Salvador, Bahia State, Brazil

Renata Victoria Santos de Jesus
Complexo Hospitalar Universitário Professor Edgard Santos, Hospital Universitário Professor Edgard Santos
Rua Augusto Viana, snº, Canela
Salvador, BA, Brasil. CEP: 40110-060
renata_victoria@hotmail.com

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Keywords: Urogenital abnormalities, gynecologic surgical procedures, gynecology.
Palabra Clave: Anormalidades urogenitales, procedimientos quirúrgicos en ginecología, ginecología.
Descritores: Anormalidades urogenitais, procedimentos cirúrgicos em ginecologia, ginecologia.

Abstract:
OBJECTIVE: Malformations of the mullerian ducts are rare genital abnormalities that affect 1 in every 200 to 600 women. The Herlyn-Werner-Wunderlich syndrome is a rarer anomaly of mullerian ducts described in 1922 by E. C Purslow. This syndrome is characterized by the presence of didelphic uterus, hemivaginal septum and ipsilateral renal agenesis. Menarche in these patients can be initiated with a characteristic symptom of cryptomenorrhea, but the delay in diagnosis and treatment can lead to massive hematocolpos and hematometra with chronic pelvic pain, absence or discrete menstrual bleeding and increased abdominal volume.
DESCRIPTION: We report a case of Herlyn-Werner-Wunderlich Syndrome, in a fourteen year old teenager, who after four years of characteristic symptoms of mullerian malformation, was admitted to the University Hospital Professor Edgard Santos.
COMMENTS: The frequency of adolescents seeking expert service with advanced frame hematometra, resulting from the delay in the recognition of that entity, led the authors to make this case report, reinforcing the importance of gynecologists recognize the early signs and symptoms of this disease.

Resumen:
OBJETIVO: Las malformaciones de los conductos müllerianos son anormalidades genitales raras que afectan 1 en cada 200 a 600 mujeres. El síndrome de Herlyn-Werner-Wunderliches, es una anomalía de los conductos müllerianos aún más rara, descrita en 1922 por E. C. Purslow. Este síndrome se caracteriza por la presencia de útero didelfo, septo hemivaginal y agenesia renal ipsilateral. La menarca en estas pacientes puede abrir un cuadro sintomático característico de criptomenorrea, pero la demora en el diagnóstico y tratamiento puede llevar a abultados hematocolpo y hematómetra con dolor pélvico crónico, ausencia o discreto sangramiento menstrual y aumento de volumen abdominal.
DESCRIPCIÓN: Relatamos un caso de síndrome de Herlyn-Werner-Wunderlich, en una adolescente de catorce años, que después de cuatro años de síntomas característicos de malformación mülleriana, fue admitida en el Hospital Universitario Profesor Edgard Santos.
COMENTARIOS: La frecuencia de adolescentes que buscan el servicio especializado con cuadros avanzados de hematometra, consecuentes de la demora en el reconocimiento de esa entidad, lleva a los autores a realizar este relato de caso, reforzando la importancia de los ginecólogos en reconocer precozmente las señales y síntomas de esta patología.

Resumo:
OBJETIVO: As malformações dos ductos mullerianos são anormalidades genitais raras que acometem 1 a cada 200 a 600 mulheres. A síndrome de Herlyn-Werner-Wunderlich é uma anomalia dos ductos mullerianos ainda mais rara descrita em 1922 por E. C. Purslow. Esta síndrome é caracterizada pela presença de útero didelfo, septo hemivaginal e agenesia renal ipsilateral. A menarca nestas pacientes pode abrir um quadro sintomático característico de criptomenorreia, mas a demora no diagnóstico e tratamento pode levar a volumosos hematocolpo e hematometra com dor pélvica crônica, ausência ou discreto sangramento menstrual e aumento de volume abdominal.
DESCRIÇÃO: Relatamos um caso da síndrome de Herlyn-Werner-Wunderlich, em uma adolescente de quatorze anos, que após quatro anos de sintomas característicos de malformação mulleriana, foi admitida no Hospital Universitário Professor Edgard Santos.
COMENTÁRIOS: A frequência de adolescentes que procuram o serviço especializado com quadros avançados de hematometra, consequentes da demora no reconhecimento dessa entidade, levou os autores a fazem este relato de caso, reforçando a importância de os ginecologistas reconhecerem precocemente os sinais e sintomas desta patologia.

INTRODUCTION

The urogenital tract derives from two pairs of genital ducts: the Wolffian ducts (mesonephric ducts), and the Mullerian ducts (paramesonephric ducts). The Mullerian Inhibitor Factor (MIF) inhibits the development of the Mullerian ducts, thus allowing differentiation from the Wolffian ducts, resulting in the formation of male internal genitalia. In female embryos, the absence of the Y chromosome the androgen production results in the differentiation of Mullerian ducts through the absence of MIF, leading to the formation of the Fallopian tubes, the uterus and the proximal and medial thirds of the vagina1,2.

For female genitalia formation, the caudal portions of the Mullerian ducts merge to form the uterus and at the point of contact between the Mullerian ducts and the urogenital sinus, the vaginal lumen develops. During this development process, the Mullerian ducts merge with a vertical septum initially remaining but vanishing cranially with full vaginal canalization at around the 20th week of intra-uterine life, completing the formation of the female internal genitalia1,2.

Herlyn-Werner-Wunderlich Syndrome (HWWS) was initially identified in 1922 by English surgeon E. C. Purslow in a patient with hematocolpos, hematometra and hematosalpinx. In 1976, surgeons Herlyn U. and Werner H. described a simultaneous occurrence of didelphic uterus and renal agenesia, while this same year Wunderlich M., described the association of renal agenesia with didelphic uterus and vaginal septum3,4.

This HWW Syndrome is also known in the literature as blind hemi-vagina and ipsilateral renal anomaly syndrome, representing a rare variant of the Mullerian anomalies characterized by the presence of hemi-vaginal septum, didelphic uterus and ipsilateral renal agenesia. These congenital anomalies occur in 0.1% to 6% of women and are frequently associated with anomalies of the renal system and the axial skeleton5,6.

Symptoms frequently consist of: pelvic pain, dysmenorrhea and palpable mass, due to hematocolpos or hematometra. Primary amenorrhea, dyspareunia, urinary retention, spontaneous rupture of hematocolpos, infertility and obstetric complications are less common. These manifestations are more painful when the vaginal septum merges with the vaginal wall, resulting in complete obstruction; if incomplete, symptoms may appear at a later age or be more subtle.7

Diagnosis may be based on the clinical characteristic of Mullerian malformations, with a build-up of menstrual blood, the development of hematocolpos and hematometra. Without early diagnosis and treatment, this may constitute a major risk for acute complications, such as pyohematocolpos, pyosalpingitis or pelvic peritonitis, and long term complications, such as endometriosis, pelvic adhesions and higher risks of abortion or infertility6, 8.


PRESENTATION OF A CASE STUDY

Patient MMS, 14 years of age presented at the Gynecology Unit, Professor Edgard Santos University Hospital, Bahia Federal University (HUPES/UFBA) with an abdominal mass associated with intense and progressive pelvic pain over the past four years. She reported menarche at 10 years of age, with recurrent episodes of abdominal pain since then, in addition to irregular menstrual cycles with spotting. Prior to admission, she had been seen at other units where ultrasound (US) and nuclear magnetic resonance (RNM) of the abdomen had shown didelphic uterus, uterus and left vagina with a large build-up compatible with hematometra and hematocolpos, bladder compression and left renal agenesia.

With the diagnosis of HWWS confirmed, surgery was scheduled. After peridural anesthesia, the genital examination showed a vagina with a uterus to the right and a left hemi-vaginal septum distended by large hematocolpos. A transverse incision was made in the vaginal septum, draining out approximately 1,000 ml of blood with a chocolate-like appearance. After draining the entire volume from the vagina and left uterus, the septum was marsupialized of the septum was performed successfully. The patient progressed with regular menstrual cycles, with no dysmenorrhea and ultrasound control showing uterine cavities arrayed in parallel, and apparently separate, maintaining regular outlines, clear boundaries and an anatomical configuration, a myometrium with homogeneous texture, the endometrium with normal appearance and absence of free liquid at the bottom of the uterine sac. This also showed the presence of an elongated anechoic structure with slightly irregular internal parietal margins, not compressible, measuring 6.6 x 6.3 x 1.9 cm and located on the left iliac fossa, compatible with hydro /hematosalpinx. The diagnostic printout showed didelphic uterus and hemato/hydrosalpinx on the left.


Figure 1. Magnetic Resonance Image of patient showing left hemi-vagina filled by hematic matter (arrowed).


Figure 2. Patient with abdomen swollen by distended uterine volume before surgery.


Figure 3. Draining uterine content after opening the septum.


Figure 4. Outcome of the marsupialization of the left vaginal septum of the patient.



DISCUSSION

As classified by the American Society for Reproductive Medicine, HWWS is a Class III uterine anomaly and a Class IIa vaginal anomaly, caused by a fault in the lateral and vertical merging of the Mullerian structures. The proximity of the mesonephric ducts that give rise to the kidney and ureter, and the paramesonephric ducts, explains the strong association among genital and renal tract anomalies6,9,10.

The incidence of Mullerian anomalies is still not well established, with some authors affirming between 0.1% and 6% of women are diagnosed mainly during puberty, due to menstrual alterations1, being asymptomatic until menarche, when the first symptoms appear. In contrast to other genital tract anomalies, such as imperforate hymen or vaginal atresia, which are related to amenorrhea, HWWS presents a normal menstrual pattern with minor bleeding or spotting6,8, 10,11.

In addition to the almost unnoticeable symptomology during the first few months, the use of oral contraceptives for patients with dysmenorrhea may reduce or even suppress the menstrual cycle completely, together with the symptoms of pain and abdominal swelling that are characteristic of this syndrome11.

A physical examination may identify a supra-pubic mass that is painful when palpated and possible urinary incontinence when mobilizing the mass. A two-handed touch may indicate hemi-vaginal septum, usually distended by hematocolpos, but the frequent occurrence of this diagnosis in girls who are not sexually active may hamper vaginal examinations. In these cases, a rectal examination may show vaginal distension caused by hematocolpos. The investigation of patients with these symptoms includes pelvic ultrasound and magnetic resonance examinations, which are rated as the gold standard for diagnosis. The ultrasound examination may be sufficient to diagnose and indicate treatment, showing the presence of didelphic uterus with a horn distended by hematometra and hematocolpos, distended bladder and possibly the presence of hydronephrosis, in addition to ipsilateral renal agenesia5,8,9,10.

Treatment is intended to ease the symptoms caused by the distention of the affected uterine horn and preserve its fertility, avoiding immediate complications such as repeat urinary infections or pyelonephritis caused by vesical distention and the occurrence of hydronephrosis or the symptoms of pelvic inflammatory disease with fever, purulent vaginal discharge, leukocytosis and signs of peritonitis; as well as subsequent complications such as pyometra, pyosalpinx or endometriosis resulting from obstruction and blocked menstrual flow, as well as pelvic adhesions, in addition to safeguarding a normal sex life in the future 6,10,12,13. In terms of future reproduction, it is noted that, although fertility is not severely affected, the spontaneous abortion rate is high2,12,13,14.

An urgent surgical approach is required for HWWS, intended to completely excise or marsupialize the vaginal septum, draining hematocolpos and hematometra. The use of laparoscopy to access the uterine anatomy during the vaginal septecotomy is urged, although the effect of the procedure on the prognosis is still unknown8. In case of complicated pyometra with pyosalpinx, a hemi-hysterectomy may be required, with anexectomy, frequently with adverse effects on the reproductive future of the paient12,13. When surgery must be delayed for adolescents, gonadotrophin-releasing hormone analogs are an option to maintain amenorrhea, especially in cases complicated by cervical atresia.

Hysteroscopy with vaginal septum resection is an option for virgin patients, as improvements in techniques allow the vaginal septum to be resected without altering the integrity of the hymen. As it is more invasive, ipsilateral hysterectomy is not recommended, limited to patients with repetitive atresia and severe infections15.

Further oblique resection of the vaginal septum is a good choice for patients with post-surgical stenosis. In the study by Wang et al., oblique vaginal septum stenosis occurred in five patients, due to incomplete resections, who then underwent further resections. After a second or third operation, all these patients were cured completely, suggesting that this septum must be fully resectioned15.

In the study by Candiani et al., even after surgical intervention, 10% of births came from the affected side. Nevertheless, after smoothing the vaginal septum and if fertilization is successful in the contralateral uterus, obstetric outcomes improve. This study of 36 patients with HWWS under follow-up for thirty years show that 87% of them successfully completed pregnancies, 23% of them had miscarriages, 15% pre-term births and 62% full-term pregnancies with an overall live birth rate of 77%.


CONCLUSION

The specific characteristics of HWWS may delay diagnosis and treatment. Diagnosis before the menarche is rare, and is more common in girls with renal complications. Furthermore, the trend towards maintaining regular menstrual cycles with discreet symptoms during early menarche results in later diagnoses and the prescription of non-steroid anti-inflammatories and oral contraceptives for patients presenting dysmenorrhea, masking pain and reducing or eliminating menstruation14, while stepping up the risks of complications for these patients. HWWS must be strongly suspected among adolescents presenting pelvic mass, renal agenesia, menstrual alterations and cyclic pelvic pain.

Although rare, HWWS must be recognized by gynecologists as they are the practitioners who see symptomatic girls most frequently, and the dissemination of cases involving this syndrome may result in early diagnosis.


REFERENCES

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