Good Korean child which have 46,XX testicular problems out of sex creativity caused by SOX9 duplication

Good Korean child which have 46,XX testicular problems out of sex creativity caused by SOX9 duplication

Sei Acquired Yang

Get a hold of blogs of the Sei Claimed Yang 1 Department from Pediatrics, Seoul Federal College or university College regarding Medication, Seoul, Korea. Involved creator.

Target to possess interaction: Jung Min Ko, MD, yhden Japanilainen naiset asuvat Yhdysvalloissa PhD. Agencies regarding Pediatrics, Seoul Federal University Kid’s Healthcare, Seoul Federal University School away from Medicine, 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 illness out-of sex creativity (DSD), called 46,XX men syndrome, try a rare kind of DSD and you will health-related phenotype shows over sex reversal out of feminine in order to male. New sex-deciding area Y (SRY) gene is recognized for the majority 46,XX testicular DSD clients; but not, whenever 20% off clients that have 46,XX testicular DSD try SRY-negative. The fresh new SRY-package nine (SOX9) gene has several extremely important functions during testis invention and differentiation when you look at the males, and you will overexpression regarding SOX9 contributes to a man development of 46,XX gonads about lack of SRY. As well, SOX9 replication has been found getting a rare cause for 46,XX testicular DSD from inside the people. Right here, i report good 4.2-year-old SRY-bad 46,XX man that have done sex reversal for the reason that SOX9 duplication to own initially during the Korea. The guy presented normal external and internal men genitalia with the exception of brief testes. Fluorescence from inside the situ hybridization and you may polymerase chain reaction (PCR) analyses didn’t find the presence of SRY, and you may SOX9 intragenic mutation wasn’t acknowledged by direct sequencing investigation. Ergo, we performed genuine-day PCR analyses having particular primer sets, and you may replication of SOX9 gene is found. Even if SRY-negative 46,XX testicular DSD was an uncommon condition, an attempt and then make a precise medical diagnosis is very important on provision off correct hereditary counseling and powering people within their long-term management.


Brand new 46,XX testicular diseases out of sex advancement (DSD), known as 46,XX men disorder, is actually an unusual condition with an estimated frequency of 1 in the 20,000 males1). It can be classified into the several subgroups, SRY-confident otherwise SRY-negative, with regards to the presence otherwise lack of this new sex-choosing region Y (SRY) gene. Approximately 80% off people with 46,XX testicular DSD provides SRY using one off a few X chromosomes, and this results from abnormal chromosomal translocation throughout the gametogenesis. However, the remainder 20% of people that have 46,XX testicular DSD try SRY-bad, additionally the reason behind this problem is largely unknown1). Very those with 46,XX testicular DSD which have SRY enjoys normal genitalia and they are perhaps not diagnosed up to puberty cannot go ahead generally. However, SRY-bad folks are more likely to features confusing genitalia than SRY-self-confident anyone. Hence, 46,XX SRY-negative somebody indicating complete men genitalia are quite rare2).

The development of testes out-of bipotential gonadal primordia try controlled by cutting-edge unit networking sites out of terms regarding several family genes. One of many genetics, SRY toward Y chromosome are a regular male-certain gene, and that starts testis invention and you can yourself upregulates brand new SRY-relevant HMG container-that features gene 9 (SOX9) gene expression. SOX9 are a beneficial transcription basis that have a good DNA-binding webpages very similar to SRY, and you can plays a crucial role throughout the cascade off gene relationships having differentiation and growth of the latest testis3). For the 1999, SOX9 overexpression in a great 46,XX gonad try identified as resulting in an enthusiastic induction away from male genitalia on the lack of SRY4). Even though there have been several records up to now out of 46,XX SRY-bad people having replication regarding SOX94,5,six,7), SOX9 duplication is not a common factor in 46,XX testicular DSD8). Into the Korea, lower than ten SRY-positive 46,XX patients was indeed claimed, so there are not any reports away from 46,XX testicular DSD as a result of SOX9 duplication9).