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.

A Novel cause of abdominal pain presenting with anuria and renal failure.

A girl in early adolescence with autism presented with 3 months of abdominal pain and 36 hours of anuria. She had recently received treatment for urinary tract infections, anxiety and menorrhagia (she had undergone menarche a few months earlier). Due to the pain, she had pulled out an incisor. Bladder scan showed 923 mL, creatinine was 829 mmol/L but urethral catheter insertion did not drain urine. An unenhanced CT scan revealed an absent left kidney, didelphys uterus and right-sided hydroureteronephrosis caused by haematocolpos in keeping with a diagnosis of OHVIRA syndrome and ureteric obstruction of a single kidney causing acute renal failure. She underwent vaginal septoplasty, drainage of the haematocolpos and right ureteric stent.

Adolescent and Young Adult Patients with Vaginal Graft-vs-Host Disease and Hematocolpos Managed with Vaginal Stents: A Case Series.

STUDY OBJECTIVE: Vaginal stenosis can be acquired as a result of vaginal graft-vs-host disease (GVHD) in patients who have undergone hematopoietic stem cell transplant (HSCT). Little data exist to guide the management of vaginal GVHD, particularly in adolescent and young adult patients. The objective of this study was to detail the management of vaginal stenosis with lysis of adhesions and vaginal stent placement in 3 young patients with vaginal GVHD. METHODS: A retrospective chart review was done for 3 patients with vaginal GVHD causing vaginal stenosis with hematometrocolpos. All 3 were treated using vaginal stent placement. Additionally, a literature review was conducted through PubMed and Google Scholar to identify 21 case reports (with a total of 35 patients) of menstrual obstruction due to GVHD. RESULTS: Obstructive vaginal stenosis secondary to vaginal GVHD occurred in our patients at ages 15, 16, and 24 years. Resolution of hematocolpos was obtained with lysis of vaginal adhesions with vaginal stent placement in all patients, with varying regimens of systemic and topical hormones, topical corticosteroids, and dilator therapy. DISCUSSION: Vaginal stenosis secondary to vaginal GVHD should be considered in patients with a history of allogeneic HSCT presenting with amenorrhea, especially those with a diagnosis of primary ovarian insufficiency. The use of vaginal stents, along with postoperative medical and dilator management as appropriate, may prevent re-stenosis, although more information is needed regarding the efficacy of treatments.

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.

Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome: A Case Report.

Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Hemivaginal septal resection and drainage of the hematocolpos were done and operative findings also confirmed the final diagnosis. She was discharged and followed up after 2 weeks and her symptoms had resolved completely. Being a rare entity many clinicians and radiologists are unaware of this disease so this may lead to misdiagnosis whenever these cases present. So strong suspicion and knowledge of this disease entity are essential for a precise diagnosis. Keywords: case reports; hematocolpos; mullerian ducts; unilateral renal agenesis.

Abdominal swelling and obstructive uropathy due to hematometrocolpos secondary to imperforate hymen: a case report.

Imperforate hymen is an uncommon congenital anomaly of the female genital tract and can lead to the collection of blood in the vagina and the uterus. Most patients are not diagnosed until menarche when they present with symptoms such as cyclic abdominal and pelvic pain, constipation, tenesmus, back pain, and difficulties with urination in association with lack of menses. We discuss the case of an adolescent female who presented with the complaint of an increasing abdominal swelling along with the urgency and a sense of incomplete urination. She had not attained menarche. A diagnosis of hematometrocolpos was made based on computed tomography findings. Subsequent perineal examination revealed a bulging imperforate hymen. Hymenotomy was performed with complete resolution of the symptoms. This case highlights the importance of keeping a high index of suspicion for this condition in patients presenting with these symptoms and the importance of appropriate gynecologic examination.

Mimics of malignancy caused by concurrent imperforate hymen and transverse vaginal septum: an instructive case and review of the literature.

The coexistence of imperforate hymen and vaginal septum is rare and their ability to mimic malignant manifestations have not been frequently reported. This current case report describes a 13-year-old girl that presented with cyclic abdominal pain for 6 months. She was found to have a huge mass via abdominal plain film X-ray and sonography, with inexplicably high levels of serum carcinoembryonic antigen, cancer antigen (CA)-19-9 and CA-125. Pelvic computed tomography imaging disclosed two huge cystic lesions in the uterine and upper vaginal cavities. Surgical intervention conformed the diagnosis of a concurrent imperforate hymen and transverse vaginal septum, echoing the imaging findings of haematocolpometra. Her tumour marker levels gradually returned to normal after surgery. This rare case of concomitant imperforate hymen and transverse vaginal septum highlights that haematocolpometra, a benign disease that might mimic malignancy, should be taken into consideration in any adolescent females with an abdominal mass and amenorrhoea to ensure an early diagnosis and timely appropriate management.

Laparoscopic Colpo-Pneumo Occluder as a Vaginal Mold for Vaginal Reconstruction.

BACKGROUND: Currently, there is no commercially available soft vaginal mold designed for reconstructive surgeries for congenital vaginal anomalies. Stricter operating room regulations discourage the use of makeshift molds from foams and gloves. A colpo-pneumo-occluder balloon is designed to maintain pneumoperitoneum after colpotomy in laparoscopic hysterectomies and is approved for use in vaginal surgeries. CASE: A 17-year-old girl with a congenital transverse vaginal septum experienced recurrent obstruction and hematocolpos. We successfully used a colpo-pneumo-occluder balloon as a vaginal mold during postoperative care. Its size and design make this device ideal for use in vaginal reconstructive surgeries in adolescents. SUMMARY AND CONCLUSION: The laparoscopic colpo-pneumo-occluder, a sterile vaginal device, is appropriate to use as an adjustable, soft vaginal mold for correction of congenital and acquired vaginal anomalies.

[Urinary Retention Due to Hematocolpos].

Hematocolpos is an obstruction of the menstrual flow due to an anomaly of the genital tract, with imperforate hymen being the most common one. It is an uncommon condition, with a prevalence of 1:1000 - 1:16 000. It is usually an asymptomatic condition until the onset of menarche, when there is accumulation of blood in the vagina (hematocolpos) or in the uterus (hematometra). A rare symptom of hematocolpos could be urinary retention. Our case report is about a 12-year-old girl, with no menarche and Tanner stage M4/P5, who was admitted to our emergency department with abdominal pain and urinary retention. A brief review of this rare condition is presented, in order to remind clinicians about its existence, so that it can be diagnosed and treated as quickly as possible.

O hematocolpos consiste na obstrução do fluxo menstrual por uma anomalia do trato genital, sendo a mais frequente o hímen imperfurado, uma patologia pouco comum (prevalência de 1:1000 ­ 1:16 000). Geralmente é uma condição assintomática até a menarca, quando ocorre acumulação de sangue na vagina (hematocolpos) ou no útero (hematometra). Um sintoma raro de hematocolpos é a retenção urinária. Apresentamos o caso de uma adolescente de 12 anos, sem menarca e com estadio sexual de Tanner M4/P5, que recorreu ao nosso serviço de urgência com dor abdominal e retenção urinária. Com o intuito de sensibilizar para esta patologia rara, fizemos uma breve revisão teórica orientada para o rápido diagnóstico e tratamento da mesma.

A Rare Pelvic "Mass-Querader": Acute Urinary Retention Secondary to Hematocolpos in a Preadolescent Patient.

We report a case of acute urinary retention in an adolescent female secondary to hematocolpos. A 13-year-old female presented to the emergency department with acute urinary retention and suprapubic abdominal pain for 24 hours. She denied menstruation or sexual history. Bedside bladder ultrasound scan revealed 1.2 L of retained urine and a Foley catheter was placed. A formal renal ultrasound detected a debris-filled structure in the abdomino-pelvic cavity. Follow-up computed tomography of the abdomen and pelvis revealed an 8.5 cm × 9.3 cm × 12.1 cm mass-like structure in the pelvis. No formal pelvic exam was completed and the patient was taken to the operating room for exploratory laparotomy due to concern for large pelvic mass versus tubo-ovarian abscess. However, upon entering the abdominal cavity, no mass was found. At that point, an external genital exam was performed, revealing an imperforate hymen. Hymenotomy resulted in the evacuation of 2.5 L of clotted blood from the vagina and uterus. Hematocolpos resulting in acute urinary retention is exceedingly rare; however, it is an important differential diagnosis that can be ruled in or out by physical exam findings. Although it may be uncomfortable for adolescent patients and physicians, external genital exams should be conducted in young females with acute urinary retention and amenorrhea to evaluate for imperforate hymen. This can ensure appropriate treatment and avoidance of unnecessary invasive procedures.

The Dangers of Hymenotomy for Imperforate Hymen: A Case of Iatrogenic Pelvic Inflammatory Disease with Pyosalpinx.

BACKGROUND: Complications associated with imperforate hymen include cyclical abdominal pain, acute urinary retention, endometriosis, and even iatrogenic infections. CASE: A 14-year-old young woman was diagnosed with an imperforate hymen, hematocolpos, and right hematosalpinx. A hymenotomy was performed, followed by a hymenectomy 3 days later. On postoperative day 7, she was admitted for pelvic inflammatory disease with a right pyosalpinx. The infection was refractory to intravenous gentamicin, ampicillin, and clindamycin so the patient underwent computed tomography-guided drainage of the pyosalpinx. Two days later, she was discharged home in good condition. SUMMARY AND CONCLUSION: Small incisions and punctures into imperforate hymens without immediate definitive management should be avoided because inoculation of the newly introduced bacteria can ascend the gynecologic tract and lead to serious infections.

Uterine didelphys with one cervix obscured by blind hemivagina: a lesson in rarity.

A 14-year-old girl presented with increasing cyclical pain, scanty menses, pelvic mass and absence of the left kidney. With both radiological and clinical examinations (examination under anaesthesia), diagnosis of bicornuate uterus with single cervix could be made while on laparotomy, and it turned out to be uterine didelphys, with one cervix obscured by blind hemivagina with haematometra and haematocolpos in the left horn, for which hemihysterectomy was done. Post procedure the patient was relieved of cyclical pain and is menstruating properly.

Hematometrocolpos Disguised as Abdominal Pain.

BACKGROUND: Hematometrocolpos caused by an imperforate hymen is a common form of vaginal outflow obstruction. This is a rare pediatric anomaly that can present with atypical or vague symptomatology, such as abdominal pain or constipation or urinary retention in the setting of amenorrhea. It is essential to obtain a gynecologic history and inquire about menstrual cycles to properly evaluate a young female with such a common complaint as abdominal pain. Failure to perform a gynecologic examination in the emergency department setting may delay diagnosis and appropriate care for this rare condition, which can lead to serious complications. CASE REPORT: This case describes a 12-year-old female who presented to the emergency department with a complaint of abdominal pain and urinary symptoms. Because of the severity of the patient's pain on abdominal examination, we obtained a computed tomography scan of her abdomen and pelvis, which showed findings consistent with hematometrocolpos. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Obstruction of the female genital outflow tract is a rare occurrence. Because abdominal pain is such a common complaint, not only in the pediatric emergency department but also in the outpatient setting, the diagnosis of hematometrocolpos may easily go undiagnosed for months or even years. Obtaining a complete gynecologic history is key when evaluating young females with abdominal pain or urinary retention. Early detection and timely management can prevent serious complications and long-term sequelae. This patient had a successful outcome and early surgical management of her hematometrocolpos which was caused by an imperforate hymen.

Lumbalgia en adolescente de 12 años como manifestación clínica de hematocolpos por himen imperforado / Low back pain in 12-years old adolescent as clinical manifestation of hematocolpos secondary to imperforate hymen

Presentamos un caso de hematocolpos debido a himen imperforado, diagnosticado en paciente de 12 años que es remitida al Servicio de Urgencias por lumbalgia mecánica de 2 semanas de duración sin mejoría a pesar de tratamiento con antiinflamatorios no esteroideos y relajantes musculares. La paciente presentaba dolor lumbar intenso que interfería en el descanso nocturno, sin antecedente traumático previo, y asociaba las últimas 24 horas dificultad para realizar micción. Una anamnesis y exploración física detallada son suficientes para diagnosticar una patología que, aunque poco frecuente, tiene un tratamiento quirúrgico sencillo y cuyo diagnóstico puede evitar multitud de exámenes complementarios y tratamientos farmacológicos innecesarios (AU)

We present a case of hematocolpos due to an imperforate himen, diagnosed in a 12 years old patient who was referred to the Emergency Service because of a two weeks duration mechanic lumbago which did not improve despite the treatment with NSAIDs and muscle relaxants. The patient had severe low back pain that interfered with the night rest, with no previous history of trauma, and in the last 24 hours, also presented difficulty in urination. The study of the medical records and a physical exploration were enough to diagnose a pathology that, although rare, has a simple surgical treatment and whose diagnosis can prevent many complementary exams and unneccssary drug treatments (AU)

Scoliosis in Herlyn-Werner-Wunderlich syndrome: a case report and literature review.

Herlyn-Werner-Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unreported scoliosis in HWWS is described. The patient is a 12-year-old Chinese female with scoliosis that underwent a posterior correction at thoracic 5-thoracic 12 (T5-T12) levels, using the Moss-SI (Johnson & Johnson, American) spinal system. At 24-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Six months after scoliosis correction surgery, the patient went to our clinics for the treatment of HWWS. She was performed a vaginal septum resection and detected with pyocolpos. Her follow-up was symptom free at the fourth postoperative month. The prevalence of scoliosis among patients with HWWS was 8.57% that is much higher than the incidence of congential scoliosis among general population (1/1000). To the best of our knowledge, this is the first report of HWWS with thoracic scoliosis. During surgery, surgeons and anesthesiologists must pay particular attention to the Müllerian duct anomaly and renal agenesis associated with HWWS. There is a potential association between congenital scoliosis and HWWS.

Hematoureter due to endometriosis.

OBJECTIVE: To report the laparoscopic management of a rare case of hematoureter due to endometriosis in a young woman with multiple genitourinary anomalies. DESIGN: Video demonstration of a surgical technique and review of genitourinary endometriosis. SETTING: Hospital. PATIENT(S): A 17-year-old nulliparous woman with multiple genitourinary anomalies presented with pelvic pain and unilateral retroperitoneal mass. The patient had uterine didelphys, a history of left nephrectomy, and partial ureter resection as an infant. She had a partial resection of a left transverse vaginal septum due to hematocolpos at age 12. A preoperative magnetic resonance imaging (MRI) scan revealed a left retroperitoneal mass with extension to the paravesical region, reaccumulation of the hematocolpos behind the partially resected left transverse vaginal septum, and a dilated left uterine horn with hematometra. INTERVENTION(S): Laparoscopic management of hematoureter due to intrinsic endometriosis. MAIN OUTCOME MEASURE(S): Intraoperative findings showed uterus didelphys with dilated left horn, normal right horn, and normal right and left fallopian tubes and ovaries. The left transverse vaginal septum was resected vaginally, and the hematocolpos and hematometra drained. The left uterine horn and cervix were laparoscopically resected. The left-side serpiginous retroperitoneal mass was dissected from the pelvic sidewall, ligated, and transected, with spillage of thick, brown liquid. The pathology of the mass wall was smooth muscle and transitional epithelium consistent with ureter, in addition to hemorrhage and glandular structures consistent with endometriosis. Endometriosis was also present in the serosa of the left uterine horn. Thus, the left retroperitoneal mass was the left ureter remnant, which acquired endometriosis and collected menstrual debris, resulting in hematoureter. CONCLUSION(S): Two major pathologic types of ureteral endometriosis have been described: intrinsic, as occurred in this patient, and extrinsic. Women with müllerian anomalies, vaginal obstruction, or imperforate hymen are at higher risk of endometriosis. Prior urogenital surgery can further complicate and distort the anatomy. Thus, a preoperative understanding of the patient's urogenital anomalies is important to consider the differential diagnoses and anticipate surgical needs.