Abstract
Disorders of Sex Development (DSD) are referred to a group of disorders in which at least two out of gonadal sex, genetic sex, phenotypic sex and genital tract sex show discordance between them. Among the three main categories of DSD, 46XY DSD is a rarer type which we encountered in our case. A 14 year old female presented with abdominal pain and lump since 10 days. On clinical examination she had external sexual characters of a female. Karyotyping revealed a 46XY type. Intra-operatively, there was a normal uterus with a tumor mass in the location of the right gonad which was removed, along with a biopsy taken from the contralateral gonad, both intra-abdominal in location. Histopathologic examination of the tumor mass revealed a malignant mixed germ cell tumour (GCT) comprising of dysgerminoma and yolk sac tumour and the contralateral gonad was found to be testis, with evidence of intratubular germ cell neoplasm unclassified (IGCNU). Patient underwent 4 cycles of chemotherapy after the histopathologic diagnosis but was later lost to follow-up. The relative ambiguity of these disorders with their propensity to develop into type II GCTs makes these cases unique, perplexing and of utmost importance. Keywords: 46XY DSD, Mixed GCT, IGCNU.
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