Sadia Nemat, Muhammad Asif, Fazal-u Rehman Khan, Muhammad Yaqoob, Muhammad Nasir Ibrahim.
Chromosomal Aberrations in a Cohort of Pakistani male patients presenting with disorder disorder of sex development (DSD).
Pak J Med Health Sci Jan ;12(3):1005-7.

Background: Ambiguous genitalia is a birth defect where the outer genitalia don’t have the typical appearance of either male or a female. Aim : To detect the chromosomal aberrations in male children presenting with disorder of sex development. Method : Thirty patients were studied whose test is were palpable or see in sonographical examinations. Their clinical and physical examination including hormonal assay, Ultrasonography and cytogenetic analysis was done. Peripheral blood lymphocytes were cultured followed by Giemsa staining and karyotyping. Results : Out of 30 cases under study 22 had 46, XY DSD presented with ambiguous genitalia having micropenis, palpable gonads, scrotal rugae and bifid scrotum. While 7 had hyposapadias and there was 1 patient with azospermia. Consanguinity of the parents was found in 73.3% of the cases. Conclusion : The identification of the specific causes of male disorder of sex development is very important, as it assist in patient management and family counselling. Chromosomal analysis is absolutely necessary for appr opriate clinical management.

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