Figure 1

Clinical and genetic findings of this family. (a) The pedigree of this family, and external genital findings of the affected boys (III-1 and III-2). (b) CAG repeat length polymorphism at exon 1 of AR and c.245–42 G > A variant at intron 6 of AR. The “286 bp” peak and the “A” allele are shared by affected males II-3, III-1, and III-2, and obligatory carriers I-2 and II-2. The c.245–42 G > A variant creates the “AG” splice acceptor motif. WT: wildtype, and MT: mutant.