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.

Multimodality imaging of diseases of the vagina.

Pathologies of the vagina are important causes of symptoms related to the genital tract in women. They can be missed on transabdominal ultrasonography (USG), which is the baseline modality used for evaluation of gynaecological complaints. Transperineal USG and MRI are the imaging modalities of choice for evaluation of the vagina. Diseases of the vagina can be grouped depending upon the age group in which they occur. In children and young adults, congenital anomalies like longitudinal or transverse vaginal septum, imperforate hymen, vaginal aplasia or atresia, and rectovaginal fistula can be seen. Malignant tumours can rarely occur in children, rhabdomyosarcoma being the most common one. Common diseases affecting adults include benign lesions like epidermoid, Gartner duct, and Bartholin cysts, and urogenital fistulas involving the vagina. Endometriosis and other benign tumours of vagina including leiomyoma, fibroepithelial polyp, and angiomyxoma are occasionally seen. Malignant tumours can be primary, the most common one being squamous cell carcinoma, or secondary, due to direct extension from cancers involving the adjacent organs. Characteristic morphological changes occur in the vagina after radiotherapy, which can be identified on imaging. Knowledge about the imaging appearances of these diseases is crucial in guiding appropriate management.

Prenatal and postnatal diagnosis of congenital hymen prolapse: A case report.

RATIONALE: Female genital tract abnormalities are relatively uncommon and usually discovered accidentally. And hymen prolapse is even rarer, which is asymptomatic and is commonly found during the examination of the baby external genitals. PATIENT CONCERNS: Here, we report a case of fetal genital abnormality detected at 32 weeks of gestation. DIAGNOSES: At 32+1 weeks of pregnancy, ultrasound showed taht an iso-echoic mass of about 8 mm × 5 mm was protruding from the genitalia, and at 36 weeks, ultrasound showed that an iso-echoic mass of about 9 mm × 5 mm could be seen protruding from the genitalia, and its morphology was similar to the result of the 32-week data. At 39 weeks a baby girl was naturally delivered. Physical examination showed the female external genitalia, part of the hymen protruded into the vaginal orifice. Finally, the clinical diagnosis was hymen prolapse. INTERVENTIONS AND OUTCOMES: No treatment was carried out. Reexamination at 11 days after birth revealed a significantly smaller prolapse than before. Since the postpartum follow-up, the baby has been in good condition, the hymen has gradually returned, and the genitals are all normal. LESSONS: Regardless of the confidentiality of prenatal tests regarding the sex of the fetus, prenatal ultrasound should be used to fully evaluate the morphology and structure of each system including the reproductive system of the fetus when screening fetal malformations. The purpose of this case is to remind doctors of the rigorous degree of genital examination, increase the detection rate, and save the life of the fetus.

Reproductive health challenges of an African school girl: a case report on non-bulging imperforate hymen with haematocolpometra during Covid-19 pandemic.

Background: Several schoolgirls attain reproductive age with undiagnosed gynaecological problems which pose challenges in their livelihood. These conditions include precocious puberty, congenital reproductive tract abnormalities, and delayed sexual development. Many children with these conditions face additional challenges including physical pain, psychological trauma and delayed diagnosis. Methods: A 14-year-old girl presented with acute on chronic pelvic pain and haematocolpometra due to imperforate hymen during COVID-19 pandemic. She has not undergone cultural virginity test in her community. The hymenal membrane was unusually non-bulging despite the haematocolpometra. A partial hymenotomy with a narrow margin of excision was performed. Results: The hymenal orifice later obliterated and resulted in a repeat partial hymenectomy where a wide surgical margin of the hymen was excised. Conclusions: A wide rather than narrow partial hymenectomy prevents obliteration of the hymenal orifice after surgery for imperforate hymen. There is a need for timely interventions such as counselling and community awareness that prevent undue consequences of an imperforate hymen and its treatment including pain and possible inability to pass cultural virginity test in some African communities.

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.

Characteristics of fetal physiological and pathological uterine effusion observed on prenatal ultrasonography: a case report.

BACKGROUND: The prenatal detection rate of fetal uterine effusion is very low, and current case reports mainly focus on pathological hydrometrocolpos. We presented two cases of fetal physiological uterine effusion with different ultrasonic characteristics and compared them with one case of hydrometrocolpos with the hope of identifying strategies to reduce misdiagnosis of fetal uterine effusion. CASE PRESENTATION: This paper reports the cases of two female fetuses with abnormal pelvic echoes in the third trimester, referred to a tertiary center to be screened for suspected pelvic teratoma and cystic mass, respectively. Ultrasound consultation revealed fetal uterine effusion. The two fetuses were delivered at our hospital after a full term. Re-examining the uterus and adnexa of the neonates revealed that the uterine effusion had subsided naturally. Another female fetus had a large cystic mass in the pelvic cavity in the third trimester, and prenatal examination indicated fetal hydrometrocolpos. The fetus was delivered at our hospital after a full term. The hydrometrocolpos existed even after birth. After consultation with a neonatal surgeon and gynecologist, the newborn was diagnosed with congenital imperforate hymen with hydrometrocolpos. Hymen puncture and open drainage led to a good prognosis. CONCLUSIONS: Prenatal ultrasonography plays an important role in diagnosing and differentiating between physiological and pathological fetal uterine effusion. It can help reduce misdiagnoses that can lead to incorrect clinical decisions.

Bedside Intervention for Neonatal Hydrometrocolpos and Imperforate Hymen.

Low complexity cases of neonatal hydrometrocolpos from imperforate hymen are typically treated with hymenotomy or hymenectomy. Although this is commonly performed in the operating room, bedside management is also safe and effective. We present a case of prenatally diagnosed, simple hydrometrocolpos treated via bedside hymenotomy on the first day of life. The patient received periprocedural antibiotics prior to the procedure and had full resolution of hydrometrocolpos without any complication or need for further intervention. Early intervention and administration of periprocedural antibiotics allowed for safe management of this condition without the risks and resources of treatment in the operating room.

Himen imperforado con hematocolpos. A propósito de un caso / Imperforate hymen with hematocolpos. Apropos of a case

RESUMEN Los defectos en la canalización de la membrana himeneal causan obstrucción del tracto genital femenino. Como consecuencia aparece hematocolpos, resultante de la acumulación y retención de secreciones cervicovaginales -sangre en útero y vagina-, ante la imposibilidad de su evacuación por la presencia de un himen imperforado. Clínicamente aparece masa abdominal, asociada con malformaciones vaginales congénitas. Se presentó el caso de una adolescente de 13 años que refirió retención urinaria, disuria, dolor y masa en hipogastrio, y ausencia de la menarquía a pesar de un desarrollo puberal en estadio Tanner III. Al realizar ultrasonido se constató sangre en el útero, debido a imperforación himeneal que se resolvió mediante himenotomía. La patología de himen imperforado con hematocolpos debe estar entre los posibles planteamientos sindrómicos de aquellas pacientes con cuadros similares; puede diagnosticarse en la Atención Primaria de Salud a partir de una detallada anamnesis y exploración física, aunque la comprobación requiere ecografía (AU).

ABSTRACT The defects in the channeling of the himeneal membrane cause obstruction in the female genital tract. As consequence hematocolpos appears, resulting from the accumulation and retention of cervicovaginal secretions -blood in the uterus and vagina-, due to the impossibility of its evacuation because of the presence of an imperforate hymen. Clinically, abdominal mass appears associated to congenital vaginal malformations. We presented the case of teenager aged 13 years that referred urine retention, dysuria, pain, had a mass in the hypogastrium, and absence of menarche in spite of a Tanner III pubertal development. An ultrasound showed blood in the uterus due to hymeneal imperforation solved through hymenotomy. The pathology of imperforate hymen with hematocolpos should be among the possible syndrome considerations in those patients with the same characteristics; it can be diagnosed in the primary health care from anamnesis and physical exploration, although the verification requires an ultrasound (AU).

A Novel Technique for the Reconstructive Formation of an Annular Hymen in Cases of Postpubertal Imperforate Hymen.

OBJECTIVES: Imperforate hymen (IH) is a common genital tract anomaly in women which usually presents after puberty. However, surgical treatment is often considered controversial in religious or conservative communities for sociocultural reasons. This study therefore aimed to assess the efficacy of a novel reconstructive technique involving the preservation of the annular hymen. METHODS: This prospective interventional study was performed between July 2013 and October 2019 at the minimally invasive surgery unit of a tertiary university hospital in Egypt. A total of 36 women presenting with primary amenorrhoea and haematocolpus were diagnosed with postpubertal IH. A circular hymenotomy was performed on each patient using a 10 mm laparoscopy trocar tip and sleeve to form a new annular hymen under general anaesthesia while preserving the annular hymen. The primary outcome measure was the persistence of hymenal patency and integrity at follow-up. The secondary outcome measure included post-operative patient satisfaction and pain relief. RESULTS: The reported technique was feasible in all cases without intraoperative complications. Patency of the reconstructed annular hymen was confirmed at follow-up in all cases; moreover, no intraoperative complications were reported. There was a significant post-operative improvement in pain scores (P <0.001). Both the patients and their parents/guardians reported a high level of satisfaction with the technique. CONCLUSION: This novel technique for the correction of IH involving the reconstruction of an annular hymen was found to be a safe, minimally invasive and effective procedure. This technique should be considered a feasible alternative to a conventional hymenotomy as it allows for the resumption of normal hymenal anatomy without overtreatment.

The importance of a thorough clinical examination in adolescent girls presenting with acute urinary retention.

We present an adolescent girl with a 1-day history of acute urinary retention and lower abdominal pain. She was admitted to the paediatric ward for ongoing treatment and investigations. Due to a myriad of factors including pain and anxiety, challenges posed included an incomplete initial abdominal and external genital examination. This case report highlights the importance of a focused history and performing an appropriate sensitive examination at the time of presentation. Furthermore, we explore the common causes of new onset urinary retention and unravel the case as it unfolds. We also highlight differential diagnoses (however, uncommon), which must be considered and not overlooked to avoid unnecessary investigations and to ensure timely management.

Unusual presentation of a septate hymen leading to a retained vaginal tampon in the urinary bladder.

There is a wide range of hymenal variants which exist and usually become apparent to women during puberty. Our case describes a 16-year-old woman with a previously undiagnosed hymenal septum who presented with a retained tampon within the urinary bladder. This case report discusses a rare presentation of a hymenal variant and highlights the importance of understanding the difference in pelvic examinations in children and adolescents when compared with adults and awareness of the different hymenal variants.

A case report of hydronephrosis caused by imperforate hymen in an infant.

RATIONALE: Hydronephrosis, mostly caused by ureteropelvic junction obstruction, rarely occurs in infants. However, imperforate hymen atresia in female infants may cause hydronephrosis, even though it is rare. PATIENT CONCERNS: A 3-month-old female infant was admitted to our hospital for frequent crying. There was no significant past medical history. DIAGNOSES: Following ultrasound imaging, the patient was diagnosed with hydronephrosis possibly caused by imperforate hymen. INTERVENTIONS: The infant underwent hymenotomy with a cruciate incision to prevent future complications such as acute renal injury. OUTCOMES: Hydronephrosis resolved after the operation. The outcome was very good, with no complications in the postoperative period. CONCLUSIONS: Early ultrasound diagnosis plays a significant role in the management and treatment of infant patients. Ultrasound is the mandatory imaging technology for determining the cause of hydronephrosis.

Hidden spaces: treatment of an occult uterovaginal septum.

OBJECTIVE: To describe the unique presentation and surgical management of a complete uterovaginal septum. DESIGN: Video case report. SETTING: Tertiary care academic medical center. PATIENT(S): A 25-year-old woman, gravida 2, para 0-0-2-0, referred for evaluation after imaging and clinical examination revealed conflicting information. She was initially seen by her local provider for menorrhagia. Locally an ultrasound revealed a septate uterus, and examination under anesthesia with hysteroscopy noted a single vagina and cervix with a unicornuate uterus. Due to incongruous findings, she was referred for evaluation. INTERVENTION(S): Magnetic resonance imaging (MRI), examination under anesthesia, vaginal surgery, and operative hysteroscopy. MAIN OUTCOMES AND MEASURE(S): The MRI identified a complete uterovaginal septum with a single septate cervix. Vaginal gel was used to define vaginal anatomy, and the gel was noted to fill the right hemivagina with none noted on the left. Examination under anesthesia revealed an imperforate hymen with a small opening on the left as the cause for confusion in the clinical presentation. A hymenectomy was performed followed by guided surgical management of a complete uterovaginal septum, unicollis. RESULT(S): The patient was discharged home the same day of surgery. CONCLUSION(S): Presentation of müllerian anomalies are often complex, and anatomic variations in commonly described anomalies make misdiagnoses common. Advanced imaging with use of MRI with vaginal gel or three-dimensional ultrasonography and detailed examination are often helpful. Differentiating between unicollis and bicollis presentations in complete uterovaginal septum cases is an important distinction during surgical management.

Missed diagnosis of imperforate hymen later presenting with hypertension.

An adolescent girl presented with hypertension and was found to have haematocolpos and imperforate hymen. She had a background of chronic abdominal pain and had sought medical attention multiple times prior, with the diagnosis being missed as pubertal evaluation and perineal examination had been neglected during those visits. Hypertension resolved following hymenectomy and drainage of haematocolpos with no long-term sequelae.

Symptomatic Imperforate Hymen in Early Infancy: A Case Report.

Imperforate hymen, though a congenital anomaly, usually presents late in puberty as lower abdominal pain, primary amenorrhea, and cyclical pain. Blood collects in vagina and uterus, proximal to imperforate hymen leading to their distention. Its presentation at infancy is a rare entity. We report such a rare case of symptomatic imperforate hymen in infancy, who presented with acute retention of urine, chills and rigor. Abdominal examination revealed an intra-abdominal mass in the lower abdomen and pelvis with the absence of vaginal opening on perineal examination. Contrast enhanced computed tomography abdomen showed large abdominopelvic cystic lesion posterior to the urinary bladder and anterior to the rectum consistent with a highly distended vagina. She was managed by the incision of the imperforate hymen and drainage of the pus. A high index of suspicion is necessary whenever a female infant presents with abdomino-pelvic mass with symptoms of fever or urinary retention.

Diagnóstico y manejo de Himen Imperforado en una lactante menor / Diagnosis and management of Imperforated Hymen in an infant

INTRODUCCIÓN: El himen imperforado es la malformación congénita más frecuente del tracto genital femenino. La mayoría de los casos no se pesquisan en la infancia, debido a un examen genital insuficiente. Su diagnóstico y resolución deben ser precoces y definitivas para evitar complicaciones posteriores. OBJETIVO: Presentar el caso de una lactante portadora de himen imperforado, y actualizar la información sobre las técnicas de examen genital para detectar esta patología en forma precoz y su tratamiento. CASO CLÍNICO: Lactante de 3 meses, consultó por aumento de volumen protruyente en la zona del introito. En el examen físico se realizó maniobra de valsalva que dio salida a una masa homogénea, nacarada de superficie lisa, entre los labios mayores, sugerente himen imperforado. Se complementó el estudio con ultrasonido ginecológico, el que demostró la presencia de hidrocolpos, descartando otras anomalías. Se realizó una himenotomía, que dio salida a abundante material seroso, sin mal olor, y luego se completó la himenectomía mediante la resección de la membrana himeneal. En control al 4to mes posterior a la intervención se constató un himen ampliamente permeable. CONCLUSIÓN: Los equipos de atención neonatal, requieren capacitación acerca de la técnica correcta del examen genital externo de la recién nacida y lactante. La himenectomía es la técnica que permite resolver definitiva mente el cuadro evitando complicaciones.

INTRODUCTION: Imperforated hymen is the most frequent congenital malformation of the female genital tract. Most cases are not investigated in childhood, due to an insufficient genital examination. Its diagnosis and resolution must be early and definitive to avoid subsequent complications. OBJECTIVE: A clinical case of an infant with imperforated himen is presented. To update on genital examination technique necessary to detect this pathology in the newborn and infants, and the proper treatment. CLINICAL CASE: 3-months-old infant that consulted due to an increase in bulging volume in the introitus area. In the physical examination, the Valsalva's maneuver was performed allowed the ex pulsion of a homogeneous pearly mass with a smooth surface, between the labia majora, suggesting imperforate hymen. The study was complemented with gynecological ultrasound, which demons trated the presence of hydrocolpos, ruling out other anomalies. A hymenotomy was performed, which allowed for the evacuation of abundant serous material, with no bad smell, and then the hymenectomy was completed by resection of the hymenal membrane. In follow-up monitoring 4 months after the intervention, a widely permeable hymen was found. CONCLUSION: Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.

The impact of hymenectomy on future gynecological and obstetrical outcomes.

Background: Imperforated hymen is a rare condition usually diagnosed at puberty due to amenorrhea accompanied by cyclic pelvic pain and sometimes other significant complications such as hematometra, endometriosis, and infertility. The accepted surgical treatment for imperforate hymen and some other hymenal malformation is hymenectomy. However, given low incidence rates, long-term obstetrical and gynecological outcomes in post-hymenectomy women remain poorly understood.Objective: To investigate long-term obstetrical and gynecological outcomes in nulliparous women who underwent a hymenectomy.Study design: Retrospective study comparing gynecological and perinatal outcomes of nulliparous women with and without hymenectomy, who delivered between the years 1988 and 2015 at the Soroka University Medical Center. Univariate analysis was performed as accepted with multivariate logistic regression model used to assess long-term effects of hymenectomy.Results: During the study period, 56 of 74,598 nulliparous women who delivered at the Soroka University Medical Center had previously undergone a hymenectomy. In a univariate analysis, cesarean deliveries were significantly more prevalent among women who had undergone a hymenectomy (30.4 versus 17.6% p = .01) as were infertility treatments (10.7 versus 4.4% p = .04) and dyspareunia (42.9 versus 0.2% p <.001). In a multivariate logistic regression model hymenectomy was found to be an independent risk factor for significant obstetrical and gynecological outcomes defined as one or more of the following: caesarean deliveries, cervical laceration, vaginal laceration, perineal laceration, preterm delivery, cervical incompetence, endometriosis, infertility, and dyspareunia (OR 2.5, 95% CI 1.26-4.93; p = .001).Conclusions: Hymenectomy is associated with significant long-term obstetrical and gynecological complications. Informing medical teams of these risks might promote early detection and minimize associated complications such as laceration-associated blood loss and preterm delivery.

[Diagnosis and management of Imperforated Hymen in an infant]. / Diagnóstico y manejo de Himen Imperforado en una lactante menor.

INTRODUCTION: Imperforated hymen is the most frequent congenital malformation of the female genital tract. Most cases are not investigated in childhood, due to an insufficient genital examination. Its diagnosis and resolution must be early and definitive to avoid subsequent complications. OBJECTIVE: A clinical case of an infant with imperforated himen is presented. To update on genital examination technique necessary to detect this pathology in the newborn and infants, and the proper treatment. CLINICAL CASE: 3-months-old infant that consulted due to an increase in bulging volume in the introitus area. In the physical examination, the Valsalva's maneuver was performed allowed the ex pulsion of a homogeneous pearly mass with a smooth surface, between the labia majora, suggesting imperforate hymen. The study was complemented with gynecological ultrasound, which demons trated the presence of hydrocolpos, ruling out other anomalies. A hymenotomy was performed, which allowed for the evacuation of abundant serous material, with no bad smell, and then the hymenectomy was completed by resection of the hymenal membrane. In follow-up monitoring 4 months after the intervention, a widely permeable hymen was found. CONCLUSION: Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.