An effective Korean son with 46,XX testicular disorder regarding sex development because of SOX9 duplication

An effective Korean son with 46,XX testicular disorder regarding sex development because of SOX9 duplication

Sei Obtained Yang

Look for content by the Sei Won Yang 1 Service off Pediatrics, Seoul Federal University College out of Medicine, Seoul, Korea. Related author.

Target having interaction: Jung Min Ko, MD, PhD. Department out-of Pediatrics, Seoul Federal College Child’s Hospital, Seoul National College or university School away from Drug, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3570, Fax: +82-2-743-3455,

This is an unbarred Availability blog post marketed under the regards to the fresh Creative Commons Attribution Low-Industrial Permit ( which it permits unrestricted non-commercial fool around with, shipping, and you can reproduction in any average, offered the initial job is securely cited.


The new 46,XX testicular sickness out-of sex invention (DSD), also known as 46,XX men problem, was an uncommon sorts of DSD and you can scientific phenotype shows complete sex reversal regarding feminine so you’re able to male. The brand new sex-determining area Y (SRY) gene should be known for the majority 46,XX testicular DSD clients; not, just as much as 20% off people with 46,XX testicular DSD is actually SRY-bad. The new SRY-field 9 (SOX9) gene has several very important characteristics during the testis invention and you will distinction in males, and you can overexpression off SOX9 results in a man development of 46,XX gonads about absence of SRY. On the other hand, SOX9 duplication is known as an uncommon cause for 46,XX testicular DSD in the humans. Right here, we declaration a beneficial cuatro.2-year-old SRY-negative 46,XX man with over sex reverse as a result of SOX9 duplication to have the first occasion from inside the Korea. He exhibited normal internal and external men genitalia with the exception of quick testes. Fluorescence into the situ hybridization and you will polymerase chain effect (PCR) analyses failed to place the current presence of SRY, and you can SOX9 intragenic mutation wasn’t acquiesced by lead sequencing investigation. Thus, i performed actual-date PCR analyses that have specific primer pairs, and replication of the SOX9 gene are revealed. Regardless if SRY-bad 46,XX testicular DSD is a rare reputation, an endeavor to make an exact diagnosis is essential towards supply from correct genetic guidance and also for guiding people in their long-title management.


The fresh new 46,XX testicular problems out-of sex innovation (DSD), labeled as 46,XX male disorder, was an unusual updates that have a projected prevalence of a single when you look at the 20,000 males1). It may be classified to the a couple of subgroups, SRY-confident or SRY-bad, according to the exposure otherwise absence of the fresh sex-choosing region Y (SRY) gene. As much as 80% regarding clients that have 46,XX testicular DSD provides SRY on a single out of a couple of X chromosomes, hence is a result of unpredictable chromosomal translocation through the gametogenesis. However, the remaining 20% of men and women that have 46,XX testicular DSD is SRY-bad, and the cause of this condition is actually unknown1). Most individuals with 46,XX testicular DSD which have SRY features normal genitalia and they are not diagnosed up to puberty cannot just do it normally. But not, SRY-negative people are expected to provides ambiguous genitalia than just SRY-confident people. Therefore, 46,XX SRY-negative individuals demonstrating over men genitalia can be rare2).

The development of testes away from bipotential gonadal primordia was controlled by complex unit communities regarding expressions away from numerous genetics. One of many genes, SRY with the Y-chromosome is a frequent men-particular gene, and that initiates testis creativity and you can yourself upregulates the brand new SRY-associated HMG field-who has gene nine (SOX9) gene expression. SOX9 try a great transcription grounds which have a DNA-joining website very similar to SRY, and you will plays a crucial role on the cascade regarding gene relationships to own distinction and you will development of the brand new testis3). Into the 1999, SOX9 overexpression into the a good 46,XX gonad is actually recognized as ultimately causing an enthusiastic induction off male genitalia on absence of SRY4). Even though there was several profile thus far from 46,XX SRY-bad clients that have replication of SOX94,5,six,7), SOX9 duplication isn’t a common cause of 46,XX testicular DSD8). Within the Korea, lower than ten SRY-positive 46,XX patients was said, so there are not any reports out-of 46,XX testicular DSD as a consequence of SOX9 duplication9).