The variant affects gene SLC35D2-HSD17B3, HSD17B3 (SLC35D2-HSD17B3 readthrough| hydroxysteroid 17-beta dehydrogenase 3), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Testosterone 17-beta-dehydrogenase deficiency