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A beneficial Korean kid that have 46,XX testicular sickness off sex development because of SOX9 replication

Sei Won Yang

Discover blogs by Sei Obtained Yang step one Agencies of Pediatrics, Seoul National College or university College out of Drug, Seoul, Korea. Corresponding creator.

Target to possess telecommunications: Jung Minute Ko, MD, PhD. Company out-of Pediatrics, Seoul Federal College or university Child’s Healthcare, Seoul Federal College or university University off Treatments, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3570, Fax: +82-2-743-3455,

This can be an unbarred Availability article marketed according to the terms of the brand new Innovative Commons Attribution Low-Commercial License ( and this it permits unrestricted non-commercial play with, delivery, and you will breeding in just about any typical, considering the initial job is securely cited.


The fresh 46,XX testicular illness out of sex creativity (DSD), called 46,XX men problem, was a rare style of DSD and you may clinical phenotype suggests done sex reversal out-of women in order to men. The fresh sex-determining region Y (SRY) gene might be understood for the majority 46,XX testicular DSD customers; however, up to 20% from customers with 46,XX testicular DSD is SRY-negative. The brand new SRY-container nine (SOX9) gene has numerous crucial characteristics during testis invention and you will differentiation for the men, and overexpression out-of SOX9 results in the male development of 46,XX gonads throughout the absence of SRY. Concurrently, SOX9 duplication has been seen becoming an unusual reason for 46,XX testicular DSD in people. Here, i report a great 4.2-year-old SRY-negative 46,XX boy with complete sex reverse caused by SOX9 duplication having the first time within the Korea. The guy presented regular internal and external men genitalia apart from small testes. Fluorescence inside the situ hybridization and you can polymerase strings impulse (PCR) analyses didn’t choose the presence of SRY, and you can SOX9 intragenic mutation was not acknowledged by lead sequencing analysis. Ergo, we did actual-big date PCR analyses that have certain primer sets, and duplication of your SOX9 gene was revealed. Although SRY-bad 46,XX testicular DSD is actually an unusual standing, an effort and then make an exact analysis is essential to the provision off proper genetic guidance as well as for guiding patients in their long-name administration.


Brand new 46,XX testicular disease off sex creativity (DSD), called 46,XX male disorder, is an unusual reputation which have an estimated prevalence of a single inside the 20,000 males1). It can be classified toward two subgroups, SRY-positive or SRY-negative, with respect to the visibility otherwise absence of the fresh sex-choosing region Y (SRY) gene. Up to 80% regarding people which have 46,XX testicular DSD has actually SRY on a single regarding two X chromosomes, and this is a result of unpredictable chromosomal translocation while in the gametogenesis. Although not, the remainder 20% of men and women which have 46,XX testicular DSD was SRY-bad, additionally the cause of this disorder is largely unknown1). Really people who have 46,XX testicular DSD with SRY features typical genitalia and generally are perhaps not identified up to puberty does not go-ahead normally. However, SRY-bad individuals are prone to have confusing genitalia than SRY-self-confident anyone. Ergo, 46,XX SRY-bad some body exhibiting complete men genitalia can be rare2).

The development of testes off bipotential gonadal primordia are subject to state-of-the-art unit sites regarding terms of numerous family genes. Among family genes, SRY into Y chromosome try an everyday male-specific gene, and this starts testis invention and you may yourself upregulates the new SRY-relevant HMG box-who has gene 9 (SOX9) gene phrase. SOX9 try good transcription factor that have a good DNA-binding web site much like SRY, and you can performs a vital role regarding cascade out-of gene MoЕѕete isprobati ovdje connections to have distinction and you may growth of this new testis3). During the 1999, SOX9 overexpression for the an excellent 46,XX gonad try identified as causing a keen induction from men genitalia from the lack of SRY4). Though there were several reports yet from 46,XX SRY-bad clients with duplication out of SOX94,5,six,7), SOX9 replication is not a common reason for 46,XX testicular DSD8). During the Korea, below 10 SRY-confident 46,XX people was indeed reported, so there are not any accounts out of 46,XX testicular DSD resulting from SOX9 duplication9).


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