## 3 Results
Genitourinary abnormalities and Mayer-Rokitansky-Kuster-Hauser syndrome have been described in TAR syndrome, and this diagnosis was etiologically appropriate for the uterus agenesis described in patient p30. The gene \(RBM8A\) is suggested to be responsible for the Mayer-Rokitansky-Kuster-Hauser phenotype in TAR syndrome. Patient p31 was diagnosed with 18p11.32-18p11.31 deletion, an etiological diagnosis for genitourinary abnormality, cryptorchidism, and micro-penis that have been described in other patients with this deletion. The \(CYP2 IA2\) homozygous deletion in 46,XX patient p32 identified by SNP array technique was also an etiologic diagnosis for this patient. Chromosomal microarray led to a clear etiologic diagnosis for two of eight 46,XX patients (25%) and for five of 27 46,XY patients (19%). Thus, of the 35 patients tested (46,XX and 46,XY), 7 (20%) had a final etiologic diagnosis. Patients with negative results after SNP array testing were analyzed by gene panel sequencing that included the known and candidate genes involved in DSD (Table 3). Of 22 patients who were analyzed, five patients had the 46,XX karyotype, and 17 patients had the 46,XY karyotype. Three of the five tested 46,XX patients (60%) presented pathogenic variants (two patients) and VUS (one patient). Patient p9 (a 46,XX patient) presented compound heterozygous variants in the \(RSPO1\) gene, which were interpreted as class III variants. These variants included one c.286+1G>A (modifies the splice site between exon 4--intron 4, not noted in gnomAD, described in Clinvar [patient 18085567], predicted as pathogenic by _BayesDel_addAF_, _DANN_, _EIGEN_, _FATHMM-MKL_, _MutationTaster_, and _scSNV-Splicing_) and one c.484A>G (missense variant in exon 6, described in gnomAD as having a very low frequency [\(f=0.00000401\)]). Another 46,XX patient, p12, presented compound heterozygous variants in the \(FGFR1\) gene, one in c.914A>G, which was interpreted as pathogenic (a missense mutation in exon 8, a hot-spot region of the gene, classified as pathogenic by Uniprot, already described in several articles, not found in gnomAD, predicted as pathogenic by _BayesDel_addAF_, _DANN_, _DEOGEN2_, _EIGEN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MVP_, _MutationTaster_, and _SIFT_) and one in c.2440A>C, which was interpreted as VUS (missense variant in exon 19, not found in gnomAD, predicted as pathogenic by the prediction platforms _BayesDel_addAF_, _DANN_, _DEOGEN2_, _EIGEN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MutationAssessor_, _MutationTaster_, and _SIFT_). Patient p34 presented a heterozygous c.1075G>T variant in the _ATM_ gene, which was interpreted as pathogenic (a null variant in exon 9, not found in gnomAD with pathogenic predictions in _BayesDel_addAF_, _DANN_, _EIGEN_, _FATHMM-MKL_, and _MutationTaster_); this gene has been associated with premature ovarian failure, as observed in patient p34. Of the 17 46,XY patients tested by gene panel sequencing, 13 (76%) presented pathogenic variants (two patients), likely pathogenic variants (seven patients), and VUS (four patients). Patient p1 presented a heterozygous variant, c.437C>A, in the \(WT1\) gene, which was interpreted as VUS (a missense variant in exon 1, not described in gnomAD; 93% of missense variants of the WT1 gene are pathogenic, predicted pathogenic by _BayesDel_addAF_, _DANN_, _FATHMM-MKL_, _M-CAP_, _PrimateAI_, and _SIFT_). Patient p2 presented a heterozygous variant, c.5405-7G>A, in the \(CHD7\) gene, which was classified as likely pathogenic (an intronic variant, classified as pathogenic in Clinvar by several submissions and articles, not found in gnomAD).