Histopathological spectrum of disorders of sexual development: a case series of seven cases

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

Solitary Fibrous Tumor of Head & Neck Region: Problems in Diagnosis Due to “Borderline” Features.

Aims: To report SFT in a 45 years male who had a lobulated tumor in neck for longest duration of 18 years with borderline histomorphology. Presentation of Case: The case discussed is of a forty-five year old Indian man who presented with painless mass in right side of neck for the duration of 18 years with rapid enlargement in last one year. Discussion: Solitary fibrous tumor is an unusual spindle cell neoplasm arising from primitive mesenchymal cell with distinct “patternlesss pattern” on histomorphology. The commonest site for this tumor is pleura but in recent years it has been described in various anatomic sites and is known to involve any region of the body. The extra- pleural sites include extremities, pelvis, head and neck and urogenital region. SFT of Head and Neck region is rare and usually involves deep soft tissues. Morphologically SFT resembles many benign and malignant soft tissue tumors. Conclusion: SFT is a rare tumor in neck region and has to be differentiated meticulously from other common and rare soft tissue tumors. Close follow up is essential after complete surgical excision in cases with “borderline” histomorphology.