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.

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.

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.

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.

Fever of unknown origin attributable to haematocolpos infected with Salmonella enterica Serotypetyphi resistant to nalidixic acid: a case report.

The prevalence of nalidixic acid-resistant Salmonella Typhi (NARST) infection is increasing worldwide. We are reporting an unusual case of infected haematocolpos presenting as urinary obstruction in a patient with fever of unknown origin (FUO). This case report highlights the importance of quinolone-resistant typhoid fever in the differential diagnosis of any acute febrile illness in countries, like India, where Salmonella infection is endemic.

Imperforate hymen with elevated serum CA 125 and CA 19-9 levels.

OBJECTIVE: To report the clinical characteristics of 14 patients with imperforate hymen and their levels of tumor markers (CA 19-9 and CA 125). STUDY DESIGN: Fourteen patients with imperforate hymen who followed-up between September 2006 and September 2010 in the Department of Obstetrics and Gynecology, Dicle University School of Medicine, Diyarbakir, Turkey, were evaluated retrospectively. The clinical features and the management of the patients are discussed. RESULTS: The mean age of the patients was 13.8 years. All patients had primary amenorrhea and pelvic pain. The most common clinical symptoms were cryptomenorrhea in 14 patients, pelvic pain in 11, palpable abdominal mass in 6, voiding difficulties in 7, and defecation problems in 2. In 6 patients with palpable pelvic mass, the mean + standard deviation values of tumor markers were as follows: CA 125, 84.0 +/- 23.7 and CA 19-9, 162 +/- 189. One week after surgery we measured CA 125 and CA 19-9 levels once again. The postoperative mean CA 125 level was 13.8 +/- 3.6, and the mean postoperative CA 19-9 level was 17.5 +/- 3.5. Preoperative levels of CA 125 and CA 19-9 were significantly higher than those of the postoperative period (p < 0.001 for both comparisons). Six patients were treated by T-shaped incision and 8 patients by a central surgical incision through the hymenal membrane. CONCLUSION: Diagnosis of imperforate hymen is very important before undergoing surgery in a different clinic. Many patients have seen several doctors before receiving a clear diagnosis and have had tumor markers evaluated because the presence of pelvic mass in patients suggests the possibility of a gynecologic malignancy. Imperforate hymen is one of the benign conditions that increase serum CA 125 and CA 19-9 levels and which is not listed in the classical medical textbooks. These markers are not needed for the diagnosis.

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.

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.

An unusual cause of anuria and hydronephrosis in a 12-year-old girl.

A 12-year-old girl was admitted for abdominal pain and signs of acute kidney injury. Physical examination showed abdominal distension and a tumefaction in the lower abdomen. Laboratory and clinical findings were consistent with acute kidney injury. Abdominal ultrasonography showed an oval mass, which corresponded with hematometrocolpos, and right-sided hydronephrosis. Catheterization followed by cruciate hymenectomy was performed. The patient recovered completely. Imperforate hymen is an obstructive anomaly of the female reproductive tract of unknown etiology that can cause a variety of symptoms. It is a rare, but possible cause of acute kidney injury. Patient history data and genital examination findings are sufficient to establish the diagnosis. Abdominal ultrasonography is the most useful diagnostic modality.

[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.

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.

Vulvovaginal-gingival syndrome.

Vulvovaginal-gingival syndrome is a distinct variant of classic lichen planus frequently associated with mucocutaneous scarring and vaginal stricture formation, therefore early diagnosis and treatment through a multidisciplinary approach is essential. Management is challenging and is characterised by wide variation in treatments and lack of evidence-based therapeutic approaches. Literature review with particular regard to therapeutic approaches is performed with a view towards a cooperative treatment study.

Congenital imperforate hymen with bilateral hydronephrosis, polydactyly and laryngocele: A rare neonatal presentation.

Imperforate hymen is a rare congenital malformation to present with symptoms in the neonatal period. We present a case of a 5-day-old neonate with a marked interlabial swelling causing urinary retention. Imaging revealed hydrometrocolpos, hydrosalpinx, and bilateral hydronephrosis. Additionally, our patient had polydactyly of both feet and hands, and laryngocele that have not been previously described in literature. Hymenectomy is the mainstay of management to prevent the development of hematocolpos, pain, and possible retrograde menstruation.

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.

An overlooked cause of acute urinary retention in an adolescent girl: a case report.

INTRODUCTION: Massive hematocolpos resulting from an imperforate hymen is quite a rare cause of acute urinary retention, in an adolescent girl admitted to the emergency department. MATERIALS AND METHODS: A 12-year-old girl suffering from severe inguinal pain and dysuria together with difficulty in urination for about 1 month was admitted to the emergency department for acute urinary retention. On gynecological examination, imperforate hymen was observed to be the cause of the urinary difficulty. Pelvic magnetic resonance imaging revealed a dilated vagina exerting pressure on the bladder outlet suggestive of hematocolpos. Cruciate hymenotomy was performed. The postoperative period and three follow-up visits of the patient up to the 6th month were uneventful. CONCLUSION: The diagnosis of imperforate hymen can be missed if a genital examination is not performed in adolescent girls presenting to emergency departments with urinary difficulty. The purpose of this paper is to increase awareness among emergency physicians about the probability of imperforate hymen while examining adolescent girls with urinary retention and intermittent lower abdominal pain.

An unusual cause of lower abdominal pain in pubertal girls.

A rare cause of acute lower abdominal pain in pubertal girls is described. The diagnosis is often missed at initial presentation and this may result in multiple presentations to the emergency department or general practitioner. The clinical features, diagnosis, management and possible complications of this condition are discussed. The case illustrates the importance of keeping this diagnosis in mind when seeing teenage girls with lower abdominal pain.

[The role of MRI in congenital cystic lesions in the pelvis: a case of uterus didelphys with double vagina, hematocolpos, and ipsilateral renal agenesis.]. / Lesión quística congénita en la pelvis: un caso de útero didelfo con doble vagina, hematocolpos y agenesia renal ipsilateral: papel de la resonancia magnética.

We report a case of uterus didelphys with blind hemivagina and ipsilateral renal agenesis. This is an uncommon anomaly of the development of the Mullerian ducts in which a defect in one of the Wolffian ducts leads to failed induction in kidney formation and in the fusion of the Mullerian ducts. MRI plays a decisive role in the diagnosis and characterization of the malformation.