## 3 Results  
A total of 267 patients were evaluated with karyotype and _SRY_ testing. Of these patients, 39 (14.6%) were diagnosed with different chromosomal abnormalities, most of them involving the sex chromosomes (36 of 39 patients; Table 1). The 46,XX karyotype was observed in 104 patients (39%), while the 46,XY karyotype was observed in 122 patients (46%). Two patients with the 46,XX karyotype were _SRY_ positive. Of patients with the 46,XX karyotype, 39 were tested for the main _CYP2 IA2_ mutations (using strip assay). This testing was performed if their basal 17-hydroxyprogesterone was greater than 2 ng/mL or if stimulated 17-hydroxyprogesterone (after synthetic ACTH administration) was greater than 10 ng/mL. In 17 (44%) of the 39 patients, the diagnosis was confirmed. Of 85 patients with the 46,XX karyotype (without an established etiologic diagnosis, after _CYP2 IA2_ testing) and of 122 patients with the 46,XY karyotype, 8 and 27 patients, respectively, were further analyzed using chromosomal microarray (Table 2). The other undiagnosed patients were not tested further for different reasons (i.e., absent biological sample, absent clinical follow-up, limited possibility of genomic testing). Three of the eight 46,XX patients (38%) presented pathogenic CNVs (two patients) or VUS (variant of unknown significance)(one patient); two of these patients presented syndromic 46,XX DSD, while one presented an isolated form (Table 2). Of the 27 46,XY patients, 10 patients (37%) were diagnosed with pathogenic CNVs (three patients), uniparental disomy (three patients), or VUS (four patients); each of these 10 patients presented syndromic DSD. Patient p10, 46,XY, presented a recurrent 16p11.2 deletion of 597 kb, which has classically been associated with intellectual disability, developmental delay, autism spectrum disorders, and obesity. Cryptochidism has also been mentioned in patients with this CNV. However, the precise gene responsible for cryptochidism is not known. Patient p4 presented with disomy of chromosome 7, and his phenotype was concordant with the Russell-Silver phenotype. This syndrome has been associated with cryptochidism, micropenis, and hypospadias in other patients, and thus the genital phenotype in this patient was considered a result of this syndrome. Two patients, p14 and p21, presented 15 chromosome isodisomy, and further MLPA identified a maternal origin for these chromosomes. The clinical phenotype superposed that of [PERSON] syndrome, and in this clinical context, the cryptochidism was due to hypogonadotropic hypogonadism. Patient p18, who had an exon 4 deletion in the \(OTC\) gene, presented cryptochidism. \(OTC\) mutations have not been previously described in association with this phenotype; however, the metabolic defect associated with hypopodia at a younger age may have had some association with \begin{table}
\begin{tabular}{c c} \hline \hline
**Karyotype** & **Number of Patients, n** \\ \hline
45,X & 18 \\ \hline
45,X/46,XY & 2 \\ \hline
45,X/46,XX & 4 \\ \hline
45,X/46,XX/47,XXX & 3 \\ \hline
46,Xi(Xp) & 1 \\ \hline
46,XX,dup(X)(q22q24) & 1 \\ \hline
47,XXY & 3 \\ \hline
46,XY/47,XXY & 1 \\ \hline
48,XXXY & 1 \\ \hline
49,XXXXX & 1 \\ \hline
46,XY,dup(8)(q24.3) & 1 \\ \hline
46,XY,del(12)(q13) & 1 \\ \hline
46,XY/47,XX,+mar & 1 \\ \hline
46,XX & 106 \\ \hline
46,XY & 122 \\ \hline \hline \end{tabular}
\end{table} 
Table 1: Karyotypes observed in DSD patients. cryptorchidism. Patients p3 and p6 presented uncertain CNVs in the 15q11.2 region, but previous data have not supported the involvement of these CNVs in DSD. Patients p24, p26, and p35 presented variants of uncertain significance, with no clear argument for their consideration in a final diagnosis. P30, a 46,XX patient, presented 1q21.1 deletion, or BP2-BP3 (thrombocytopenia absent radius [TAR] syndrome), and the clinical phenotype of the patient superposed with this syndrome.