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Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. Materials and methods. This study prospectively investigated a total of 267 patients with DSD who presented to Clinical Emergency Hospital for Children Cluj-Napoca between January 2012 and December 2019. Each patient was clinically, biochemically, and morphologically evaluated. As a first intervention, the genetic test included karyotype +  SRY  testing. A high value of 17-hydroxyprogesterone was found in 39 patients, in whom strip assay analysis of the  CYP21A2  gene was subsequently performed. A total of 35 patients were evaluated by chromosomal microarray technique, and 22 patients were evaluated by the NGS of a gene panel. Results. The karyotype analysis established the diagnosis in 15% of the patients, most of whom presented with sex chromosome abnormalities. Genetic testing of  CYP21A2  established a confirmation of the diagnosis in 44% of patients tested. SNP array analysis was particularly useful in patients with syndromic DSD; 20% of patients tested presented with pathogenic CNVs or uniparental disomy. Gene panel sequencing established the diagnosis in 11 of the 22 tested patients (50%), and the androgen receptor gene was most often involved in these patients. The genes that presented as pathogenic or likely pathogenic variants or variants of uncertain significance were  RSPO1 ,  FGFR1 ,  WT1 ,  CHD7 ,  AR ,  NIPBL ,  AMHR2 ,  AR ,  EMX2 ,  CYP17A1 ,  NR0B1 ,  GNRHR ,  GATA4 , and  ATM  genes. Conclusion. An evaluation following a genetic testing protocol that included karyotype and  SRY  gene testing,  CYP21A2  analysis, chromosomal analysis by microarray, and high-throughput sequencing were useful in establishing the diagnosis, with a spectrum of diagnostic yield depending on the technique (between 15 and 50%). Additionally, new genetic variants not previously described in DSD were observed.

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development