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.

Recurrent formation of haematocolpos in a young girl with multiple congenital anomalies of the urogenital tract.

An 11-year-old girl, a known case of left crossed fused renal ectopia and sacral hypoplasia presented to the gynaecological OPD in Karachi, Pakistan, in February 2019 with complaints of abdominal pain. On examination, she was found to have a septum covering her vaginal orifice. She was subsequently diagnosed with haematocolpos secondary to imperforate hymen. Incision and drainage was done. However, despite surgical management, she continued to have recurrent formation of haematocolpos for the next two months secondary to multiple complete and partial transverse vaginal septa and post-operative formation of adhesions. Definitive management was done with ultrasound guided needle puncture and drainage, followed by post-operative tampon use to maintain patency.

[Primary amenorrhea by transverse vaginal septum: a case report and review of the literature]. / Amenorrea primaria por tabique transverso vaginal inferior: reporte de un caso y revisión de la bibliografía.

The transverse vaginal septum is one of the rarest anomalies of the reproductive tract classified depending on location. It is manifested by primary amenorrhea, cyclic pain and progressive mass growth at abdominopelvic level, ultrasound and magnetic resonance imaging provides the diagnosis, location and thickness of a transverse vaginal septum, treatment is surgical. We present a case of a teenage patient with primary amenorrhea due to lower transverse vaginal septum with surgical resection and satisfactory follow-up with successful vaginal patency.

Management of Hematometra and Hematocolpos in Obstructive Mullerian Anomalies by Image-Guided Drainage with Interventional Radiology: A Multi-Institutional Case Series.

STUDY OBJECTIVE: To describe cases of image-guided drainage of symptomatic hematometrocolpos from obstructive Müllerian anomalies as a temporizing measure to manage acute pain symptoms and delay definitive management of the obstructive Müllerian anomalies that require complex reconstruction METHODS: Institutional Review Board exemption from all included institutions was obtained. A retrospective case series from 3 academic children's hospitals of 8 females under the age of 21 with symptomatic hematometrocolpos due to obstructive Müllerian anomalies drained by image-guided percutaneous transabdominal vaginal or uterine drainage with interventional radiology was reviewed and described. RESULTS: Eight pubertal patients with obstructive Müllerian anomalies (6 patients with distal vaginal agenesis, 1 patient with an obstructed uterine horn, and 1 patient with a high obstructed hemi-vagina) and symptomatic hematometrocolpos are reported. All patients with distal vaginal agenesis had greater than 3 cm lower vaginal agenesis, which would usually require complex vaginoplasty and use of postoperative stents. Given their immaturity and inability to use stents or dilators postoperatively or medical complexity, they subsequently underwent ultrasound-guided drainage of hematometrocolpos with interventional radiology to relieve pain symptoms, followed by menstrual suppression. The patients with obstructed uterine horns had complex medical and surgical histories requiring perioperative planning; they also underwent ultrasound-guided drainage of hematometra as a temporizing measure to manage acute symptoms. CONCLUSION: Patients presenting with symptomatic hematometrocolpos due to obstructive Müllerian anomalies might not be psychologically mature enough to undergo definitive complex reconstruction, which requires vaginal stent or dilator use postoperatively to prevent stenosis and other complications. Image-guided percutaneous drainage of symptomatic hematometrocolpos serves as a temporizing measure by offering pain relief until patients are ready to undergo surgical management and/or to allow time for complex surgical planning.

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.

Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion, Number 780.

At puberty, a patient with an imperforate hymen typically presents with a vaginal bulge of thin hymenal tissue with a dark or bluish hue caused by the hematocolpos behind it. Other findings that may be present include an abdominal mass, urinary retention, dysuria, constipation, and dyschezia. On evaluation, the goal is to differentiate an imperforate hymen from other obstructing anatomic etiologies, such as labial adhesions, urogenital sinus, transverse vaginal septum, or distal vaginal atresia. Surgical intervention is necessary only in symptomatic prepubertal patients. After confirmation of the diagnosis, surgical intervention usually is deferred until pubertal estrogenization has occurred because the imperforate hymen may open spontaneously at puberty. It is important to complete an abdominal and a perineal examination. If the physical examination reveals a bulging hymen and ultrasonography reveals hematocolpos, further imaging is not required. However, if the diagnosis is not certain or there is a concern for a distal vaginal atresia, cervical atresia, an obstructed uterine horn, or transverse or longitudinal vaginal septum, magnetic resonance imaging is recommended. The ideal time for surgical intervention on hymenal tissue is before the onset of pain and after onset of pubertal development, when the vaginal tissue is estrogenized. Surgical management of clinically significant hymenal variations involves excision of the hymenal tissue and rarely is associated with long-term sequelae. If there is concern that the patient has a distal vaginal atresia or a transverse vaginal septum, the patient should be referred to a center with expertise in the management of these conditions.

An uncommon cause of abdominal pain in an adolescent.

Imperforate hymen is a rare congenital anomaly which emergency physicians often forget to include in the differential diagnosis of lower abdominal pain in a pubescent girl. These patients often remain asymptomatic until puberty and present in early adolescence with cyclic abdominal pain. This case report reviews the presentation and treatment of an 11-year-old girl with imperforate hymen.

[Imperforate hymen: Can it be treated without damaging the hymenal structure?]. / Imperforation hyménéale : peut-on la traiter en préservant la virginité ?

UNLABELLED: Imperforate hymen is a rare congenital anomaly, with an incidence of about 1 in 2000 female births. It is generally diagnosed during puberty. Treatment generally consists of a hymenotomy or a hymenectomy. Because the hymen is a symbol of virginity in some communities, its destruction can be source of social problems for some girls. OBJECTIVES: We discuss the diagnostic but especially therapeutic aspects of imperforate hymens and possible surgical techniques, in particular those that preserve the hymen. MATERIAL AND METHODS: We describe the cases of 5 girls treated in our department for imperforate hymen between 2001 and 2007. Two of them required the safeguarding of the normal architecture of their hymen to preserve the appearance of virginity. We analysed diagnostic features and surgical techniques. RESULTS: The average age of our patients was 14.8 years (range: 11 and 17 years). The most frequent reason for consultation was pelvic pain with primary amenorrhea. Inspection of the vulva revealed in all cases a dome-shaped purplish-red hymeneal membrane. Hymeneal incision allowed drainage of old previously blocked menstrual blood. Three patients were treated by radial incisions of the hymen. The parents of 2 patients demanded that their hymens be preserved. Accordingly, one had a simple excision of a central flange of the hymen and the other was treated by a similar technique that also used a Foley catheter . All five patients did well after surgical treatment. The techniques used to preserve the hymen resulted in an apparently intact annular hymen. CONCLUSION: Imperforate hymen is a rare anomaly. Its diagnosis is simple. The traditional technique of radial incisions is a simple procedure that yields good results. The technique using the Foley catheter is an adequate alternative when preservation of the hymen is required.

Imperforate hymen-a rare cause of abdominal pain: two cases and review of the literature.

STUDY OBJECTIVE: To document an unusual cause of abdominal pain in premenarcheal adolescent girls. DESIGN: Case report. SETTING: A training and research hospital in Istanbul. RESULTS: Two cases of hematocolpos in two adolescent girls due to imperforate hymen were reported. Both of them manifested lower abdominal pain and urinary retention. Hymenotomy was performed in both the cases. CONCLUSION: Imperforate hymen is a rare diagnosis, but should be considered when dealing with premenarcheal adolescent girls with lower abdominal symptoms or back pain.

I-131 localization in hematocolpos: a differential diagnosis consideration for pelvic I-131 uptake.

A 14-year-old female with a history of papillary thyroid cancer underwent radioactive iodine surveillance imaging. Recurrent tumor identified in the neck was treated with 125 mCi I-131. Post-therapy scan revealed a large focus of I-131 uptake in the pelvis, not seen on the pretherapy I-123 scan. Postvoid imaging was unchanged, and there were no symptoms of urinary tract infection. No renal or ureteral activity was present to suggest delayed excretion or obstruction. Further history revealed the patient had not yet reached menarche. For concerns of an imperforate hymen possibly trapping radioactive blood, a pelvic ultrasound was performed and was compatible with hematocolpos. After the discovery of a transverse vaginal septum, a large amount of clotted blood was evacuated following incision. Hematocolpos as a cause of I-131 pelvic uptake and a potential false positive scan for metastatic thyroid cancer is probably rare. Findings concerning a genital tract outflow obstruction in a young female are generally treated without delay to prevent future reproductive problems. In this case, continued radiation exposure to the patient's ovaries heightened the urgency for surgical management.

Noia d'11 anys amb dolor abdominal cíclic de llarga evolució / No disponible

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Combined abdominal-perineal sonography to assist in diagnosis of transverse vaginal septum.

BACKGROUND: Transperineal sonography has been used to detect incompetent cervices, placenta previa, cervical pregnancy, and vaginal and cervical atresia. CASE: Transperineal sonography was used to investigate primary amenorrhea in a 14-year-old girl. A mid-transverse septum was found and confirmed surgically. CONCLUSION: Transperineal or translabial sonography assisted in the differentiation of primary amenorrhea, when adequate vaginal access was prohibited.

Hematocolpos. An unusual cause of sciatica in an adolescent girl.

STUDY DESIGN: A case report. OBJECTIVE: To document the occurrence of hematocolpos causing sciatica and leg weakness in an adolescent girl. SUMMARY OF BACKGROUND DATA: Low back pain resulting from hematocolpos has been reported previously but not associated with symptoms of sciatica or neurologic weakness. METHODS: The authors were involved in the care of this patient, and all medical records, radiologic investigations, and related literature were reviewed. RESULTS: After being checked for longstanding symptoms of sciatica and leg weakness, the patient underwent a computed tomographic examination of lumbar spine, which showed a large collection in the pelvis consistent with hematocolpos. Surgical drainage of the collection was associated with complete resolution of her symptoms. CONCLUSIONS: Awareness of hematocolpos as a possible cause for sciatica and neurologic symptoms in the lower limbs may lead to earlier diagnosis and, therefore, reduced morbidity in the investigation of the adolescent girl.

Distal mucocolpos and proximal hematocolpos secondary to concurrent imperforate hymen and transverse vaginal septum.

A 12-year-old girl had cruciate incision of imperforate hymen draining a large mucocolpos. Her symptoms did not abate thereafter, and 3 months later a transverse vaginal septum was diagnosed. This was perforated and dilated under ultrasound (US) guidance draining a large hematocolpos. Results of examination under anesthesia after 3 months was satisfactory, and she has had normal periods in follow-up for 9 months. Imperforate hymen and transverse vaginal septum are known causes of mucocolpos and hematocolpos. However, the concurrent occurrence of the two abnormalities is unique.

Down's syndrome, precocious puberty, and transverse vaginal septum: an unusual cause of abdominal pain.

Hematocolpos should be considered in adolescent girls who present with lower abdominal pain, a pelvic mass, and primary amenorrhea. The authors describe a rare case of a young child with Down's syndrome, precocious puberty, and hematocolpos caused by a transverse vaginal septum. The diagnosis was facilitated using a combination of computed tomography and ultrasound scanning. J Pediatr Surg 36:641-643.