XX Male: Early Detection With Prenatal Testing.

A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient's presentation, diagnosis of an SRY-positive 46,XX male, and medical history. The discussion focuses on the advantages of early identification and intervention in managing symptom progression and addressing fertility challenges through hormone replacement therapy. Further exploration of 46,XX DSD early detection and the underlying mechanisms is essential for refining diagnostic and therapeutic approaches that result in a greater quality of life for these patients.

Diagnostic value of the International Ovarian Tumor Analysis (IOTA) simple rules versus pattern recognition to differentiate between malignant and benign ovarian masses.

OBJECTIVE: To compare the efficacy of the International Ovarian Tumor Analysis (IOTA) simple rules versus pattern recognition to differentiate between benign and malignant ovarian masses. METHODS: A prospective cross-sectional study conducted at Kasr El Aini Hospital, Cairo, between April 2016 and October 2018 of 396 women with ovarian masses measuring more than 5 cm who were candidates for surgery. All patients underwent two-dimensional transvaginal sonography: level 2 with IOTA simple rules followed by level 3 with pattern recognition. Patients subsequently underwent ovarian cystectomy or oophorectomy and the specimens were examined histopathologically. Accuracy was measured by comparing sensitivity, specificity, positive predictive value, negative predictive value, and accuracy. RESULTS: IOTA simple rules specified 44/50 cases as malignant and 220/242 as benign (sensitivity and specificity of 88.0% and 90.9%, respectively). Pattern recognition identified 83/94 cases as malignant and 281/302 as benign (sensitivity and specificity of 88.3% and 92.7%, respectively). No statistically significant difference in accuracy was found between the two methods. CONCLUSION: IOTA simple rules are an effective tool for detecting ovarian malignancy when performed by nonexpert sonographers. When results are inconclusive, pattern recognition should be performed additionally by an expert sonographer. CLINICAL TRIALS REGISTRATION: NCT02800031.