Contribution of cytogenetic and molecular biology in disorders of sex development diagnosis: About 55 cases

Abstract

Disorders of sex development (DSD) when diagnosed early is important as it pose a real public health problem in Senegal. Among the supporting tools, molecular ones, which are not available everywhere are very useful. In this context, cytogenetic and molecular analyses were implemented in cytology laboratory at the Aristide Le Dantec hospital to enhance the DSDs diagnosis as well as evaluate the impact of the parents' age on such abnormalities. 55 cases of DSD have been received in the cytology laboratory for which cytogenetic (Barr chromatin and GTG karyotype) and molecular (SRY gene research) techniques have been used to characterize these anomalies according to the standards described in the international nomenclature. Three categories of DSD were found, namely 46,XX DSD, 46,XY DSD and chromosomal DSD. SRY is present in 4 patients 46,XX and absent in 3 patients 46,XY and results showed that the diagnosis is made earlier than previously (about 07 years). The study thus suggests the importance of complementarity (cytogenetics and molecular biology) in the diagnosis of DSD but also and especially the importance of early diagnosis from birth. Analysis of the epidemiological data also showed a slight correlation between maternal age and DSD. This showed us that a better characterization of DSD via increasingly powerful tools helps understanding on such pathologies and allows good medical care for patients.