Good Korean kid having 46,XX testicular infection off sex development considering SOX9 duplication

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Good Korean kid having 46,XX testicular infection off sex development considering SOX9 duplication

Sei Won Yang

Come across posts because of the Sei Obtained Yang step one Company away from Pediatrics, Seoul Federal School University away from Medicine, Seoul, Korea. Relevant author.

Target for interaction: Jung Min Ko, MD, PhD. Service regarding Pediatrics, Seoul National University Kid’s Hospital, Seoul National University College or university away from Treatments, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3570, Fax: +82-2-743-3455,

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The newest 46,XX testicular ailment regarding sex innovation (DSD), known as 46,XX men syndrome, is an unusual style of DSD and health-related phenotype reveals done sex reversal out-of women so you’re able to male. The fresh new sex-deciding region Y (SRY) gene should be known for the majority 46,XX testicular DSD customers; however, as much as 20% out-of clients that have 46,XX testicular DSD are SRY-bad. The SRY-field 9 (SOX9) gene has several essential qualities throughout testis development and you will distinction for the men, and you can overexpression out of SOX9 contributes to the male growth of 46,XX gonads throughout the absence of SRY. Simultaneously, SOX9 duplication has been found to be an uncommon cause for 46,XX testicular DSD into the people. Here, i statement a great cuatro.2-year-dated SRY-negative 46,XX boy which have done sex reversal for the reason that SOX9 replication to own the first occasion from inside the Korea. He exhibited regular internal and external men genitalia apart from small testes. Fluorescence during the situ hybridization and polymerase chain effect (PCR) analyses failed to choose the current presence of SRY, and you may SOX9 intragenic mutation wasn’t recognized by head sequencing analysis. Hence, i did real-day PCR analyses which have certain primer sets, and duplication of SOX9 gene is actually revealed. Regardless if SRY-bad 46,XX testicular DSD try a rare position, an effort while making an exact analysis is very important to your supply off best genetic guidance and at the rear of customers inside their long-title government.


Brand new 46,XX testicular infection from sex advancement (DSD), also known as 46,XX male disorder, is an unusual condition having a projected frequency of 1 during the 20,000 males1). It could be categorized towards the two subgroups, SRY-self-confident otherwise SRY-bad, with respect to the exposure otherwise absence of brand new sex-determining region Y (SRY) gene. Up to 80% regarding clients with 46,XX testicular DSD keeps SRY on a single out-of several X chromosomes, hence comes from irregular chromosomal translocation through the gametogenesis. However, the remaining 20% of individuals with 46,XX testicular DSD are SRY-bad, as well as the cause of this condition is actually unknown1). Extremely people with 46,XX testicular DSD that have SRY has actually typical genitalia and are perhaps not diagnosed up to adolescence will not go-ahead normally. Yet not, SRY-bad folks are very likely to possess uncertain genitalia than SRY-self-confident somebody. Therefore, 46,XX SRY-bad some body demonstrating over male genitalia are rare2).

The development of testes regarding bipotential gonadal primordia is actually subject to cutting-edge molecular networks of expressions off numerous genetics. One of many genes, SRY on Y-chromosome are a frequent men-particular gene, and that initiates testis development and you will individually upregulates the latest SRY-associated HMG container-which has had gene nine (SOX9) gene phrase. SOX9 is a transcription foundation having a DNA-binding webpages nearly the same as SRY, and you can plays a crucial role throughout the cascade out of gene connections to own differentiation and growth of the fresh new testis3). Within the 1999, SOX9 overexpression from inside the a good 46,XX gonad are recognized as leading to a keen induction out-of men genitalia from the lack of SRY4). Even though there was in fact a few reports at this point out-of 46,XX SRY-bad people which have replication regarding SOX94,5,6,7), SOX9 replication isn’t a familiar cause for 46,XX testicular DSD8). During the Korea, below 10 SRY-positive 46,XX people had been said, so there are no profile regarding 46,XX testicular DSD resulting from SOX9 duplication9).