Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.

We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to hematocolpos. Further investigation revealed additional clinical features including academic struggles, mood swings, and cutaneous findings, prompting consideration of a neurocutaneous syndrome. Magnetic Resonance Imaging (MRI) revealed features consistent with tuberous sclerosis complex (TSC), including radial migration lines in the subcortical white matter and an incidental arachnoid cyst. Notably, this case exhibited a unique presentation with absence of typical TSC findings such as subependymal nodules or cortical tubers. Additionally, precocious puberty, rarely associated with TSC, was observed, suggesting a potential link between hypothalamic lesions and hormonal imbalance. This case underscores the importance of comprehensive evaluation in pediatric patients presenting with seemingly unrelated symptoms, as it may unveil underlying conditions necessitating tailored management strategies.

Hematocolpos due to imperforate hymen: a case report and literature systematic review.

INTRODUCTION AND HYPOTHESIS: Hematocolpos is a rare condition, where menstrual blood fills the vagina, instead of being expelled, due to a series of uterovaginal pathologies, the most frequent of which is the imperforate hymen. To date, few cases of hematocolpos have been reported in the literature. METHODS: We report a case of hematometrocolpos due to imperforate hymen initially misdiagnosed as constipation and subsequently as ovarian mass; moreover, the present study undertakes a systematic review of studies on hematometrocolpos due to imperforate hymen to synthesize available knowledge on epidemiology, diagnosis, and management about this rare condition. RESULTS: A total of 35 studies, describing 61 patients, were identified. The presence of hematocolpos should be suspected in premenarchal patients complaining of low abdominal pain, abdominal swelling, and urinary retention. Genital examination disclosing a tender, pale hymen and ultrasound represent a useful tool for diagnosis. The goal of the management is to timely perform hymenotomy to drain the hematocolpos, followed by hymenectomy to prevent recurrence. Follow-up is needed to diagnose possible recurrences. CONCLUSIONS: In the case of an adolescent girl complaining of genital pain associated with primary amenorrhea, hematocolpos due to imperforate hymen should be suspected.

Vaginoscopic Resection of Oblique Vaginal Septum in OHVIRA Syndrome Before Menarche.

OBJECTIVE: To demonstrate vaginoscopic resection of the oblique vaginal septum in a girl with Obstructed Hemi Vagina and Ipsilateral Renal Agenesis (OHVIRA) syndrome before menarche. DESIGN: Stepwise demonstration of surgical technique with narrated video footage. SETTING: OHVIRA syndrome is a rare urogenital anomaly in which patients present after menarche, with progressive dysmenorrhea and a palpable pelvic mass due to hematocolpos and hematometra on the obstructed side. Delay in diagnosis may cause endometriosis, pelvic adhesions, and infertility [1,2]. A 12-year-old, premenarchal girl with complaints of pelvic pain and an ultrasound report of right renal agenesis was referred to the urology department of our hospital. She was also found to have uterus didelphys and a loculated fluid collection behind the urinary bladder on ultrasonography and on magnetic resonance imaging (Figs. 1 and 2). A probable diagnosis of OHVIRA syndrome with mucocolpos was made [3]. INTERVENTION: Vaginoscopy showed an obstructing bulging vaginal septum on the right side. The left uterine horn was inspected by hysteroscopy. The vaginal septum was incised vaginoscopically with monopolar cautery using Collins knife (Video still 1) [4-6]. The collected mucus was drained. The right cervix and the right uterine horn were visualized by hysteroscopy. Edges of the septum were resected with a resectoscope loop (Video still 2). The hymen was not injured during the surgery. Relook vaginoscopy done after 2 months showed a normal and healed vagina. CONCLUSION: Vaginoscopic resection of the obstructing oblique vaginal septum in OHVIRA syndrome is a very simple, minimally invasive, and virginity conserving surgery. Early diagnosis and treatment can prevent future complications due to cryptomenorrhea.

Outcome of a patient with Herlyn-Werner-Wunderlich syndrome treated with Balloon septostomy - pre- and postsurgical ultrasound findings.

Herlyn-Werner-Wunderlich syndrome is an unusual congenital anomaly defined by a triad of congenital defects of the female urogenital tract - homolateral renal agenesis, uterus duplex and obstructed hemi-hematometrocolpos whose etiology remains still unclear. Pelvic pain, dysmenorrhea and palpable mass due to the hematocolpos or hematometra are the most common clinical symptoms. Endometriosis is considered to be a prevalent finding in these young patients possibly explaining the pathophysiological mechanism of endometriosis as the result of retrograde menstruation. Early diagnosis and subsequent treatment are important to prevent the development of severe complications. In general, clinical and reproductive outcomes after drainage of the hematometrocolpos are reported to be satisfactory. A 13-year-old patient presented with pelvic pain and was diagnosed with OHVIRA syndrome treated with Balloon septostomy.

Hymenal atresia - a rare congenital anomaly with the risk of late diagnosis.

OBJECTIVE: Comprehensive analysis of causes, clinical signs, dia-gnostic process, differential dia-gnosis and therapy of hymenal atresia. METHODS: Literature search using the Web of Science, Google Scholar and PubMed databases with keywords and analysis of articles published in high impact and reviewed journals. RESULTS: Hymenal atresia is a congenital malformation of a womans genitals, which is manifested by complete obstruction of the vaginal introitus by a closed hymen. It should be dia-gnosed in the neonatal period, but clinically it usually manifests itself only during puberty as a result of menstrual blood retention (cryptomenorrhea) with the cyclic abdominal pain at monthly intervals. The therapy is based on optimally timed surgical creation of communication in the hymen (hymenotomy, hymenectomy) enabling free evacuation of menstrual contents. The aim of this simple treatment method is immediate subjective relief from pain and a permanent solution to this congenital anomaly. CONCLUSION: Knowledge of all types of congenital malformations of the female genitalia is a basic condition for an early and effective dia-gnostic process in adolescent girls with abdominal pain. The girl who has not yet menstruated and has cyclic lower abdominal pain and a tumor behind the pubic symphysis should be examined by a specialist in pediatric and adolescent gynecology who will confirm hymenal atresia according to a bluish and closed hymen, and suggest prompt and effective therapy.

Distal vaginal agenesis and differential diagnosis of other causes of hematocolpos.

Distal vaginal agenesis is an obstructive congenital malformation of the female reproductive tract. The distal part of the vagina is replaced by fibrous tissue and the outflow of the menstrual blood and secretion of the cervical glands is disabled. This congenital anomaly most often manifests during expected menarche by primary amenorrhea and cyclic lower abdominal pain caused by cryptomenorrhea with gradually increasing hematocolpos and hematometra. The dia-gnosis is based on gynecological examination and the suspected anomaly is confirmed by ultrasound examination and magnetic resonance imaging. Therapy of distal vaginal agenesis is exclusively surgical. A pull-through vaginoplasty is the method of choice for distal vaginal agenesis not exceeding 3cm. With a greater extent of agenesis and the risk of postoperative vaginal stenosis, replacement of the missing part of the vagina with other tissues or modified balloon vaginoplasty can be used. The aim of the treatment is to enable the evacuation of the menstrual blood, ensure quality sexual intercourse and the possibility of reproduction.

Surgically treated genital chronic graft-versus-host disease in women: A report of three cases.

Hematopoietic stem cell transplantation (HSCT) is a crucial treatment for hematological malignancy. Gonadal dysfunction occurs at an early stage after this treatment, and such patients may require hormone replacement therapy. Genital chronic graft-versus-host disease is a lesser-known complication of HSCT that begins with vulvar discomfort and dysuria and progresses to sexual dysfunction and retention of menstrual blood due to vaginal stenosis and obstruction; thus, significantly impairing the patient's quality of life. We describe three women who underwent vaginal reconstruction because of genital chronic graft-versus-host disease. We discuss the surgical techniques, including double cross plasty that were performed in each case. Surgical interventions enabled the continuation of HRT and facilitated sexual intercourse. In conclusion, gynecologists should be aware that genital chronic graft-versus-host disease can occur after HSCT, and that surgical treatment options are available to improve patients' symptoms and quality of life.

Imperforate Hymen Causing Hematocolpos and Urinary Retention.

BACKGROUND: Acute urinary retention is rare in the pediatric population and is typically caused by an obstructing entity. It may result from hematocolpos caused by imperforate hymen. Imperforate hymen is rare, with an associated incidence of 1 in 2000 people. Nonetheless, in a pediatric age female who presents with urinary retention and who has a history of primary amenorrhea or a history of cyclical pelvic pain an examination of the external genitalia should be performed to rule out this condition. CASE REPORT: A 12-year-old girl presented to the emergency department with urinary retention and was discharged with a diagnosis of urinary tract infection. She returned the following day to the emergency department with worsening abdominal pain. A computed tomography scan revealed a fluid-filled vagina measuring 12.5 cm. Her bladder measured 15.4 cm. The patient was taken to the operating room for further evaluation by the consulting gynecologist. At the time of surgery, 1000 mL of urine were evacuated after catheterization. Three hundred milliliters of chocolate-colored fluid, consistent with menstrual blood, were evacuated at time of hymenotomy. Hymenotomy was performed with a cruciate incision. No complications were encountered. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: To date, there have been >40 reported cases of imperforate hymen causing hematocolpos and subsequent urinary retention. However, given the rarity of imperforate hymen, hematocolpos leading to acute urinary retention can still be missed. Untreated urinary retention can lead to a compromise in bladder function and subsequent kidney damage.

The Greek Surgeon-Gynecologist Savvas Georgiadis (1857-1942) and the First Vaginal Reconstruction in Smyrna.

The Greek surgeon-gynecologist Savvas Georgiadis from Phocaea in Asia Minor had performed in 1897 an innovative surgical operation in a young female patient, reconstructing her vagina. Having been educated both in Greece and France, specialized in gynecology, he became a famous surgeon in the Hellenic Hospital of Smyrna "Agios Charalampos," where the operation was masterfully executed. Although among the pioneers in neovagina techniques, Georgiadis still is searching his place among the important figures in the history of plastic surgery.

[Clinical characteristics and complications in patients with OHVIRA (obstructed hemivagina and ipsilateral renal anomaly) syndrome. Our experience]. / Síndrome de OHVIRA: características clínicas y complicaciones, nuestra experiencia.

INTRODUCTION: Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA) syndrome is a rare variant of Müllerian anomalies. Delay in diagnosis and treatment can produce serious complications in patient's life and fertility. The aim of this study is to present our experience in clinical presentation, diagnosis and complications of patients with OHVIRA syndrome in a 20-year period. PATIENTS AND METHODS: Retrospective analysis of 9 women under 25 years old with OHVIRA syndrome between 1997 and 2017. Analysis included clinical characteristics, demographic, diagnostic methods, follow-up, treatment and complications. RESULTS: A total of 9 patients were studied, 5 diagnosed in prepuberal age and 4 postpuberal. 55% had prenatal diagnosis of renal agenesis and in 3 was incidentally diagnosed. Follow up period for single kidney to diagnosis was 3.6 years (range: 0-13,4 years). Right side was affected in 55%. Symptoms were dysmenorrea (44%), recurrent abdominal pain (22%), urinary dysfunction (22%). Complications were present in postpuberal patients and included hydrometrocolpos (22%) and pyocolpos (11%) requiring septostomy or septum resection. Surgical removal of the septum was performed in 44%). Prepuberal patients were asymptomatic. CONCLUSIONS: OHVIRA syndrome is a rare anomaly in the development of Müllerian ducts with variable clinical presentation. High suspect in patients with single kidney is necessary to avoid potential complications by providing surgical treatment.

INTRODUCCION: El síndrome de OHVIRA (SO) es una rara y compleja variante de las anomalías de los conductos de Müller caracterizado por hemivagina obstruida, útero didelfo y anomalía renal ipsilateral. Su diagnostico prepuberal es raro y el retraso en su diagnóstico y tratamiento compromete la vida y fertilidad de la paciente. MATERIAL Y METODOS: Análisis retrospectivo de las historias clínicas de las pacientes diagnosticadas en nuestro centro en un período de tiempo de 20 años. Los datos se recogen en un protocolo que incluye: características clínicas, diagnóstico, tratamiento y complicaciones. RESULTADOS: Nueve pacientes en total, 55% diagnosticadas en edad prepuberal y 45% postmenarquia. En el 55% se realizó diagnóstico prenatal de malformación renal. En el 33% antecedentes familiares de primer grado de enfermedades nefrourológicas. La media de seguimiento por riñón único, previo al diagnóstico, fue de 3,6 años (rango 0-13,4 años). En el 55% de los casos el lado afecto fue el derecho. Los síntomas fueron ginecológicos en el 44%, miccionales en el 22% y dolor abdominal recurrente en el 22%. Presentaron complicaciones en el 33%, correspondiendo a hidrometrocolpos (22%) y piocolpos (11%). Se realizó septostomía y resección del tabique vaginal como tratamiento en el 44%, todas en edad postpuberal. Las pacientes prepuberales continúan en seguimiento con actitud conservadora y están asintomáticas. CONCLUSIONES: El SO es una rara anomalía del desarrollo de los conductos müllerianos de presentación clínica variable. El alto índice de sospecha y el diagnóstico precoz en niñas con anomalías renales, facilita el tratamiento quirúrgico antes de la presentación de complicaciones.

Clinical and radiological findings for early diagnosis of Herlyn-Werner-Wunderlich syndrome in pediatric age: experience of a single center.

OBJECTIVE: The authors present their experience in the management of pediatric patients with Herlyn-Werner-Wunderlich syndrome (HWWS) considering clinical classification and anatomical characteristics of the malformation. METHODS: All the data of the patient presented at our Pediatric Surgery Unit from February 2010 to August 2015 were collected. According to the type of malformations, patients were divided in 3 groups: A (completely obstructed hemivagina), B (incompletely obstructed hemivagina), and C (communication between the duplicated cervices). RESULTS: Six patients were treated in the study period. The mean age was 9 years (2 months-15 years). According to the characteristics of the HWWS, we had 5 patients in group A, 1 in group B, and none in group C. One-stage surgical treatment was performed in all cases of complete obstruction, but in one case a second look was necessary for a better resection of the septum. At a mean follow-up of 18 months all patients were symptoms free. CONCLUSIONS: Prognosis of this malformation is good in case of early diagnosis and treatment. We suggest that when a renal agenesia is diagnosed, the patient needs an ultrasonographic follow-up of the contralateral kidney but also of the genital tract to find each minimal abnormalities, furthermore, a MRI scanning before the onset of menstruation can be necessary.

[Hematocolpos : an unappreciated diagnosis of hymen imperforation]. / Le cas clinique du mois. Hématocolpos : un diagnostic méconnu d'imperforation hyménéale.

The imperforation of the hymen is a relatively rare congenital malformation. It usually manifests itself in adolescence by a hematocolpos. Hematocolpos is the vaginal retention of menstrual blood at puberty. It results clinically in painful amenorrhea and more rarely in a pelvic mass syndrome. The diagnosis is easy, it is primarily clinical. Pelvic ultrasound and nuclear magnetic resonance are the complementary examinations to be performed as a preoperative assessment and to detect any associated genito-urinary malformations.

L'imperforation de l'hymen est une malformation congénitale relativement rare. L'hématocolpos, qui désigne l'accumulation progressive de sang menstruel dans la cavité vaginale, en est la manifestation la plus fréquente à l'adolescence. Il se traduit cliniquement par une cryptoménorrhée douloureuse et, plus rarement, par un syndrome de masse pelvien. Le diagnostic est facile et, avant tout, clinique. L'échographie et la résonance magnétique nucléaire sont les examens complémentaires de choix pour déceler d'éventuelles malformations génito-urinaires associées. Le traitement consiste en une hyménéotomie.

Wolffian Origin of Vagina Unfolds the Embryopathogenesis of OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) Syndrome and Places OHVIRA as a Female Counterpart of Zinner Syndrome in Males.

BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts. Thus, a failure of development of mesonephros/mesonephric duct gives rise to absent ureters and hence absent homolateral kidney; blind ending (obstructed) ipsilateral hemivagina and cessation of support to paramesonephric ducts which leads to unfused uterus (uterus didelphys). Hence, the new hypothesis explains all components of OHVIRA syndrome. On a parallel track, unilateral anomalous development of the mesonephros in males causes atresia of the homolateral ejaculatory duct that results in obstruction of the proximally placed seminal vesicle. Besides, there is absence of the ipsilateral kidney (Zinner syndrome). CASE REPORT: In this manuscript, we describe four cases of OHVIRA syndrome. Case 1 was a 34-year-old nulligravida, married since fourteen years, who presented with a 5-month history of pelvic inflammatory disease and dyspareunia. Regular menses in the patient and azoospermia in her husband delayed the diagnosis. Case 2 was a 14-year-old girl who presented with dysmenorrhea and lower abdominal pain since a few months. Case 3 was a 27-year-old female who presented with infertility and dysmenorrhea. Case 4 was a 15-year-old female who presented with a one-year history of dysmenorrhea and cyclic pelvic pain. In all cases, one of the uterine horns revealed collection due to a hemivaginal septum and an absent ipsilateral kidney; thus, establishing the diagnosis of OHVIRA syndrome. The case 4 additionally revealed homolateral vaginal agenesis. CONCLUSIONS: On the basis of our 4 cases, we support the Acien's hypothesis of Wolffian origin of vagina which explains the development of OHVIRA syndrome. Besides, we emphasize the need to suspect this syndrome in a female with a pelvic mass and absence of homolateral kidney. Finally, we believe that OHVIRA due to its Wolffian origin is a female equivalent of Zinner syndrome in males. Therefore, we propose OSVIRA (Obstructed Seminal Vesicle and Ipsilateral Renal Agenesis) as an acronym for Zinner syndrome analogous to OHVIRA.

Herlyn-Werner-Wunderlich syndrome: pre- and post-surgical MRI and US findings.

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct anomalies. The triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis characterizes this syndrome. Patients generally present with non-specific symptoms after menarche. Pelvic pain, dysmenorrhea, and palpable mass due to hematocolpos or hematometra are the most common findings. Pyohematocolpos and pyosalpinx may appear as acute complications, while endometriosis and pelvic adhesions constitute potential long-term complications. When a prenatal diagnosis of unilateral renal agenesis in newborn girls is known, a gynecological imaging study should be performed to exclude uterine and vaginal abnormalities. These patients should be followed up to ensure that a timely surgical correction is performed. The diagnosis of HWWS is difficult due to the lack of specific symptoms or findings upon physical examination. An accurate imaging description of these congenital anomalies is crucial to guide patients toward surgical treatment, relieving acute complications, and preserving the normal fertility. The authors provide a pictorial review of the magnetic resonance imaging and ultrasonography findings of the HWWS with correlation to embryological, clinical, and surgical features.

Herlyn-Werner-Wunderlich syndrome: a very rare urogenital anomaly in a teenage girl.

BACKGROUND: Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon variant of Müllerian duct anomalies, consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents in a post-pubertal adolescent or adult woman in whom hematometrocolpos produces a pronounced mass effect and pain on the side of the obstructed hemivagina. CASE REPORT: We report the case of a 13-year-old girl who presented to the emergency radiology department with sudden onset of severe pain at the right lower quadrant of the abdomen; imaging confirmed the diagnosis of HWW syndrome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: When unilateral renal agenesis and uterus didelphys coexist, the first thing that the physician should remember is to confirm or refute the presence of a blind vagina for diagnosis of HWW syndrome.

Complete bicornuate uterus with complete transverse vaginal septum.

Bicornuate uterus has two symmetric uterine cavities that are fused caudally and have some degree of communication between two cavities, usually at the uterine isthmus. A complete bicornuate uterus has a seperatory cleft of tissue that is extended to the internal OS. Lesser degree of septation of the two uterine horns has constitution, a partial bicornuate uterus. Bicornuate uterus is a class of four anomaly of American fertility society classification of mullerian anomalies. Here we report a case of a 19-year-old female patient with complaint of abdominal pain and spotting since 4 months ago. In sonography it revealed bicornuate uterus and hematocolpos. The patient underwent general anesthesia and examination that reveal the transverse vaginal septum. Septum removed by resectoscope was successful.

Imperforate hymen causing hematocolpos, hematometra and acute urinary retention in an adolescent girl.

Abdominal pain is a common occurrence in the adolescent demographic, encompassing a wide range of differential diagnoses. The etiology of abdominal pain can be categorized into gastrointestinal, urologic, and gynecologic causes. In the female pediatric population, acute urinary retention is an uncommon but noteworthy source of abdominal pain, typically resulting from an obstructive process. Hence, it is imperative to perform a comprehensive physical examination prior to deciding on the management approach. We present the case of a 11-year-old girl who visited the emergency department due to suprapubic discomfort and acute urinary retention. The patient had no significant medical or surgical history, and her neurological examinations were normal. Urinary catheterization drained 500 mL of urine. Abdominal ultrasonography revealed a hematocolpos compressing the urinary bladder. Further gynecologic history indicated that the patient had not yet experienced menarche. Consequently, a cruciate incision was performed, which resolved her urinary retention. This article aims to emphasize that although rare, imperforate hymen should be considered as a potential cause of acute urinary retention during adolescence. If an adolescent presents with abdominal pain and voiding difficulties, it is crucial to obtain a detailed gynecological history and conduct a thorough physical examination of the genital introitus.