## 3 Results
\begin{table}
\begin{tabular}{c c c c c c c c c c c c c c c c c} \hline \hline
**Patient** & **Age** & **Cender** & **Genals** & **Mather** & **Elemental** & **Fubers** & **FSHLH** & **Hemonal** & **Other** & **Karyotype** & **SKY** & **Valient (BCVS)** & **Ziguity** & **Variant** **Interpretation** \\  & & & & & & & & & & & & & & & **(ACMIC Criteria)** \\ \hline  & & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & & \\ \hline p19 & 48 & F & Bilateral copyright & no & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\ \hline p20 & 4 & M & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\ \hline p22 & 15 & M & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\ \hline p23 & 40 & F & Not evidenced & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & & \\ \hline p25 & 1 & M & & & & & & & & & & & & & & & & & \\  & & & & & & & & & & & & & & & & & \\ \hline \hline \end{tabular}
\end{table} 
Table 3: _Cust._  
Four 46,XY patients (p5, p8, p13, and p16) presented variants in the \(AR\) gene. In patient p5, the variant c.2071_2073 del was classified as likely pathogenic (an in-frame deletion, not described in gnomAD, found in the hot-spot region of the \(AR\) gene, predicted as pathogenic by _phyloP_). Patient p8 presented two VUS variants, c.167T>A and c.170_171 insGCAGCAGCA (not found in gnomAD, predicted as pathogenic by _phyloP_). In patient p13, the variant c.1097A>C was classified as VUS (missense variant in exon 1, not found in gnomAD, 96% of missense variants in the \(AR\) gene are pathogenic, prediction as pathogenic by the prediction platforms _BayesDel_addAF_, _DANN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MVP_ and _SIFT_). For patient p16, the variant in \(AR\) gene was interpreted as likely pathogenic (a missense variant in exon 6, in a known hot-spot mutation, not found in gnomAD and predictions of pathogenicity in: _BayesDel_addAF_, _DANN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MVP_, _MutationTaster_, _PrimateAI_, and _SIFT_). Patient p7 presented a pathogenic variant on the _NIPBL_ gene (a null frameshift variant, not found in gnomAD, Clinvar classification as pathogenic, pathogenic prediction on _phyloP_). Patient p11 presented two variants in the _AMHR2_ gene, one pathogenic (c.233-2A>G, null variant within splice site, not found in gnomAD, and predictions sustained the pathogenicity: _BayesDel_addAF_, _EIGEN_, _FATHMM-MKL_, _MutationTaster_, and _scSVN-Splicing_) and the other likely pathogenic (c.133 delA, null frameshift variant, not found in gnomAD). Patient p15 had a likely pathogenic variant, c.512G>A, in the _NR0B1_ gene (null nonsense variant, not found in gnomAD). Patient p17 presented a VUS variant, c.614G>A, in the _EMX2_ gene (not found in gnomAD, pathogenicity predictions from: _BayesDel_addAF_, _DANN_, _DEOGEN2_, _EIGEN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MVP_, _MutationTaster_, and _PrimateAI_). Patient p19 presented two variants in _CYP17A1_, one classified as likely pathogenic (c.1318C>T, a missense variant in exon 8, very small frequency on gnomAD, 97% of missense variants are pathogenic, the alternative variant was classified pathogenic by Uniprot, predictions for pathogenicity in: _BayesDel_addAF_, _DANN_, _DEOGEN2_, _EIGEN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MVP_, _MutationAssessor_, _MutationTaster_, and _SIFT_) and the other VUS (c.1214A>G, a missense variant in exon 7, not found in gnomAD with predictions of pathogenicity in _DANN_, _DEOGEN2_, _EIGEN_, _FATHMM-MKL_, _LIST-S2_, _M-CAP_, _MutationAssessor_, _MutationTaster_, and _SIFT_).