Thymic tumors are categorized as types A, AB, B1, B2, B3, and thymic carcinoma under the World Health Organization (WHO) classification. Thymomas are typically slow growing tumors that predominantly involve the surrounding structures through direct invasion, while thymic carcinomas tend to be more aggressive. A significant number of patients are asymptomatic and can present with metastases as the first presentation. The exact incidence of extrathoracic metastases from thymoma is not known. This study describes a series of 35 cases of histologically documented metastatic thymomas and thymic carcinomas at extrathoracic sites. These cases were classified according to the current World Health Organization (WHO) classification criteria, and we present their clinical data as well as discuss the differential diagnoses of these lesions. Our study shows that all types of thymic tumors, regardless of histologic type, can be associated with invasion and metastases to thoracic and extrathoracic sites. It is the most aggressive variant invading surrounding structures with metastases, 2 although embolic metastases of thymic carcinoma leading to extrathoracic metastases are very rare. 4 Since, thymic cancers invade locally, diagnoses of metastases are difficult. Locally advanced thymic tumors often present as pleural plaques, which can be misdiagnosed as lung metastases on imaging studies. Thus, it becomes very important to appropriately define metastases in these tumors. For this reason, we defined only lesions outside the thorax that were histologically similar to the primary thymic tumors as metastases.Although the exact incidence of extrathoracic metastases from thymoma is not known, in 1983, Ichino et al 5 documented 83 cases in the literature. However, most of the metastatic sites were not biopsied and histology was not available. In addition, the older literature does not make a distinction between epithelial lesions (true thymic tumors) and other neoplasms arising in the region of thymus. In any event, these studies suggest liver, bone, and lymph nodes as common sites of extrathoracic metastases of malignant thymoma. [4][5][6] Moreover,
Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus. Here, we report an infant with ambiguous genitalia due to MGD. Despite marked evidence of prenatal androgen exposure, there was a completely intact distal vagina.Keywords disorder of sex development; mixed gonadal dys-genesis; urogenital sinus Case reportA term infant was born with ambiguous genitalia consisting of a 2.0×0.8 cm phallic structure with chordee, non-palpable gonads, separate vaginal and urethral openings, and prominent rugated labioscrotal folds ( Figure 1A). Testing for congenital adrenal hyperplasia was negative. Müllerian inhibiting substance (MIS) was 33.6 pmol/L (RR for males: 111-348 pmol/L; females: <51 pmol/L). Testosterone at baseline was 0.2 nmol/L and increased to 3.1 nmol/L following an hCG stimulation test (male RR: 6.2-25.5 nmol/L). FSH at 13 days indicated primary gonadal dysfunction. A peripheral karyotype was 45,X/46,XY, consistent with mixed gonadal dysgenesis (MGD). The patient's laboratory data are summarized in Table 1.
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