Figure 1: Characteristics of patient. ( a ) Enlargement of the right breast. ( b ) Small penis and testes. ( c and d ) Magnetic resonance imaging showing the decreased size of the prostate (22 mm × 24 mm × 29 mm). ( e ) Sequencing data of patient androgen receptor (AR) exon 1 showing homozygous mutation site (arrow) at c.728 T>G (p.243V>G). ( f ) Sequencing data of healthy control. ( g ) Microscopic analysis of testicular biopsies showing almost exclusive presence of Sertoli cells, although some germ cells were found within the lumen of seminiferous tubules. ( h ) Sequence comparison of the AR transactivation domain amino acid sequences between different species. Arrow marks codon 243.