Management of congenital cervical atresia with vaginal aplasia: A case report and review of the literature.

INTRODUCTION: Vaginal agenesis is a rare congenital condition, with an incidence of 1 in 4500 female births. CASE REPORT: We present a clinical case of vaginal aplasia with cervical atresia in a 31-year-old woman with primary amenorrhea. We aim to report the diagnostic process and provide a comprehensive outline of different possible treatments. DISCUSSION: The most common etiology of these agenesis cases is Mayer-Rokitansky-Küster-Hauser syndrome associated with uterine aplasia. However, vaginal aplasia can occur in 9 % of cases where the uterus is present. During embryogenesis, the Müllerian ducts give rise to the fallopian tubes, uterus, and upper two-thirds of the vagina, while the lower portion of the vagina develops from the urogenital sinus. Vaginal aplasia arises from a failure in the development of the terminal portion of the paramesonephric ducts. Abdominal pain, especially periodic pain, is the most common symptom, followed by primary amenorrhea. MRI is considered the gold standard for the diagnosis and precise description of female genital tract anomalies. CONCLUSION: Total hysterectomy remains a preferred option for cases of complete vaginal atresia to mitigate the risk of cervical or vaginal stenosis, adhesions, and pelvic inflammation resulting from poor menstrual blood drainage.

Antenatal imaging diagnosis of thoraco-omphalopagus conjoined twins.

Conjoined twins occur in an estimated one in every 200,000 live births. The etiology remains largely speculative, with genetic and environmental factors being considered. The thoraco-omphalopagus type accounts for approximately 40% of cases, making it a focal point for clinical and radiological research. Radiological imaging plays a pivotal role in delineating anatomical details, offering insights into the feasibility of surgical interventions and informing parental counselling regarding prognosis and management options. We present a case of thoracoomphalogus conjoined twins diagnosed during the third trimester of pregnancy in a 19-year-old woman. The detailed radiological assessment using ultra-sound and MRI provided crucial information on organ sharing and vascular anatomy, which is critical for management strategies. This case underscores the critical role of prenatal imaging in detecting complex congenital anomalies, facilitating informed decision-making by healthcare providers and families.

Giant juvenile fibroadenoma: A case report.

INTRODUCTION AND IMPORTANCE: Breast pathology in adolescents is rare and predominantly benign, with abnormalities including congenital anomalies, infections, mastodynia, nipple discharge, and mostly benign breast masses. Fibroepithelial tumors, the most common type, form a heterogeneous group that includes benign, borderline, and malignant entities such as phyllodes tumors. Differentiation of these tumors, especially various types of fibroadenomas, requires histopathological examination due to their similar radiological appearances and lesion heterogeneity. Recognizing the nature of these lesions is crucial to avoid missing malignant forms with metastatic potential. Giant juvenile fibroadenoma is a quite rare benign fibroepithelial tumour, that cannot be differentiate from phyllodes tumors before anatomopathological examination. CASE REPORT: We report the case of a 14-year-old patient who presented with a rapidly enlarging mass in the left breast, and the diagnosis of giant juvenile adenofibroma was confirmed after surgical treatment. CLINICAL DISCUSSION: Giant juvenile fibroadenomas occurs in adolescent girl and constitutes 0.5 % - 4 % of all fibroadenomas cases. When it exceeds 5 cm, weighs more than 500 g, or occupies more than 4/5 of the breast, it is considered as giant. It is characterized by a rapid increase in size, causing distortion and compression of the breast. Breast ultrasound is the first imaging modality, showing a large, well-limited hypo or iso echoic mass. The main differential diagnosis should be made with phyllodes tumors. The diagnosis is considered based on clinical and radiological features but is confirmed only after surgical excision of the mass and histological study. CONCLUSION: The discovery of a breast mass in an adolescent should prompt further investigations to avoid overlooking a fibroepithelial tumour. The most probable diagnoses are giant juvenile fibroadenoma and phyllodes tumors.

A Sertoli-Leydig ovarian tumor presenting as ovarian torsion: A case report.

Torsion occurs as a complication in 10% of cases of ovarian tumors. It predominantly occurs in benign ones, while malignant tumors are less prone to torsion. Sertoli-Leydig cell tumors are highly unusual sex cord-stromal tumors of the ovary, accounting for less than 0.2% of all ovarian cancers. A 39-year-old patient presented to the emergency department with a Sertoli-Leydig cell tumor diagnosed due to ovarian torsion. The clinical presentation was characterized by abdominal pain. Ultrasound indicated signs of torsion, and torsion of the right ovary was subsequently confirmed during laparotomy. A salpingo-oophorectomy was performed, and histological examination revealed a moderately differentiated Sertoli-Leydig cell tumor. Sertoli-Leydig cell tumors often present with hormone-related or non-hormonal symptoms. Surgery plays a crucial role in both diagnosis and treatment. Postoperative treatment is not necessary for well-differentiated Sertoli-Leydig cell tumors in stage IA-IB. However, patients with grade 2-3 disease, advanced stage, or heterologous elements may consider adjuvant treatment. As these tumors are rare, this case contributes to the documentation of Sertoli-Leydig cell tumors, with a case diagnosed due to ovarian torsion. The case highlights the importance of establishing international registries of Sertoli-Leydig cell tumor cases for standardized management.

Voluminous cervical polyp delivered: a case report.

Cervical polyps are common gynecological findings, typically small and benign. However, larger polyps can mimic malignant neoplasms and pose diagnostic challenges. We present a case of a 40-year-old woman with a large cervical polyp, highlighting the critical role of radiological imaging in diagnosis and management. The lesion was successfully resected, with histological examination confirming a benign nature. This case underscores the necessity for careful evaluation of large cervical polyps to ensure accurate diagnosis and treatment.

Uterine smooth muscle tumors of uncertain malignant potential (STUMP): A case report.

INTRODUCTION: Uterine smooth muscle tumors of uncertain malignant potential (STUMP) are extremely rare, defined as a uterine smooth muscle tumors that cannot be diagnosed as benign or malignant and does not satisfy all the criteria for leiomyosarcoma or leiomyoma. CASE REPRESENTATION: A 48-year-old woman who presented with a history of heavy menstrual bleeding and pelvic pain. Physical examination revealed an enlarged uterus. Ultrasonography showed lobular and enlarged uterus containing multiples leiomyomas. A subtotal hysterectomy was performed. A Pathological analysis revealed a uterine mass diagnosed as a smooth muscle tumor of uncertain malignant. DISCUSSION: Uterine STUMPs are rare and are commonly diagnosed by histopathological evaluation following myomectomy or hysterectomy. The most common clinical manifestations of uterine STUMP are the same as leiomyomas. Prognosis for the patient is unclear and there is a risk of recurrence with the tumors. However, considering their potential risk of recurrence and metastasis, it is advisable to maintain six-monthly controls for 5 years and then annual controls for 5 years more. CONCLUSION: Due to the rarity of uterine STUMP, there are no specific guidelines for their treatment and control. The scientific literature needs to be constantly updated in order to identify masses suspected of malignancy before surgery and improve patient management and follow-up.

Management of severe factor XI deficiency in pregnancy: A case report.

Factor XI (FXI) deficiency is one of the rarest coagulation disorders with a frequency of 1:1,000,000. A 30-year-old woman, diagnosed with FXI deficiency at the age of 4, was admitted to our maternity service at 25 weeks of gestation. The patient had no history of hemorrhage or abnormal bleeding, and the clinical examination was unremarkable. Antenatal care was also normal. The parturient was admitted in early labor at 38 weeks of gestation. Despite the absence of clinical hemorrhagic syndrome, a transfusion of fresh frozen plasma combined with tranexamic acid was initiated once the active stage of labor was started. Management of FXI deficiency in pregnant women is a challenge due to its unpredictable bleeding tendency, and careful planning and knowledge of appropriate hemostatic management is pivotal for their care.

Lipoleiomyoma: a potential mimic of an ovarian dermoid cyst on MRI-a case report.

Uterine lipoleiomyomas are rare variants of uterine leiomyomas which is composed of adipocytes and smooth muscle cells. In this report, we describe the case of a 39-year-old patient who presented with persistent, isolated pelvic pain. Ultrasonography showed an oval, well-defined left ovarian mass. Computed tomography (CT) scanning showed a predominantly-fatty mass with tissular components, no calcifications and heterogeneously enhanced after injection, suggesting initially a mature teratoma. Magnetic resonance imaging (MRI) findings revealed a latero-uterine mass, suggesting the presence of a left ovarian dermoid cyst with a potentially-malignant fleshy component. A subsequent pathology report revealed a lipoleiomyoma with cartilaginous metaplasia. Most notably, despite the fatty nature of the tumour and the use of MRI, the pedunculated appearance of the lipoleiomyoma observed intraoperatively mimicked a dermoid tumour even on imaging. Improved understanding of leiomyoma variants and secondary degenerative changes can help prevent misdiagnosis.