Official websites use. Share sensitive information only on official, secure websites. Here, we report a 4. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction PCR analyses failed to detect the presence of SRY , and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed.
Although SRY -negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management. The 46,XX testicular disorder of sex development DSD , also known as 46,XX male syndrome, is a rare condition with an estimated prevalence of one in 20, males 1.
The development of testes from bipotential gonadal primordia is controlled by complex molecular networks of expressions of multiple genes. SOX9 is a transcription factor with a DNA-binding site very similar to SRY , and plays a crucial role in the cascade of gene interactions for differentiation and development of the testis 3.
In this study, we present an SRY -negative 46,XX Korean boy who presented with small testes and without any genital ambiguity. Four months before the visit, his mother noticed that his testes were smaller than those of his newborn brother.
He visited the Pediatric Urology Clinic at a regional hospital, and karyotype analysis using his peripheral blood resulted in a diagnosis of 46,XX. He was born at a gestational age of 40 weeks by vaginal delivery, with a birth weight of 3. After birth, a small atrial septal defect was detected, which was closed spontaneously on follow-up. On physical examination, his body weight and height were His head circumference was No gross anomalies were observed, and his external genitalia showed complete male phenotype without ambiguity Fig.
