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An effective Korean child having 46,XX testicular sickness of sex invention due to SOX9 duplication

Sei Obtained Yang

Find content from the Sei Obtained Yang step one Company off Pediatrics, Seoul Federal College College out of Treatments, Seoul, Korea. Corresponding creator.

Address having telecommunications: Jung Min Ko, MD, PhD. Service out-of Pediatrics, Seoul Federal College Child’s Health, Seoul Federal University School off Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3570, Fax: +82-2-743-3455,

This will be an unbarred Accessibility post distributed in regards to brand new Innovative Commons Attribution Non-Commercial Licenses ( which it permits open-ended low-industrial explore, distribution, and you may reproduction in every average, considering the initial efforts are securely cited.


New 46,XX testicular disorder regarding sex innovation (DSD), called 46,XX male problem, are an unusual brand of DSD and systematic phenotype reveals done sex reversal from female in order to male. The fresh sex-choosing area Y (SRY) gene will be known in most 46,XX testicular DSD people; although not, approximately 20% off clients which have 46,XX testicular DSD was SRY-negative. New SRY-box 9 (SOX9) gene has several important functions while in the testis innovation and distinction from inside the men, and overexpression regarding SOX9 causes the male development of 46,XX gonads from the lack of SRY. As well, SOX9 duplication has been discovered to be an unusual reason behind 46,XX testicular DSD within the individuals. Right here, we report a beneficial 4.2-year-old SRY-negative 46,XX boy that have complete sex reverse as a result of SOX9 replication getting the very first time into the Korea. The guy displayed regular internal and external men genitalia with the exception of quick testes. Fluorescence when you look at the situ hybridization and you will polymerase strings effect (PCR) analyses failed to find the presence of SRY, and you may SOX9 intragenic mutation was not identified by head sequencing analysis. Thus, i performed real-go out PCR analyses that have certain primer pairs, and you will duplication of SOX9 gene is actually revealed. Even if SRY-negative 46,XX testicular DSD is an uncommon updates, an attempt making an accurate diagnosis is very important towards provision of right hereditary counseling and also for guiding customers in their long-term government.


The new 46,XX testicular diseases out of sex advancement (DSD), also known as 46,XX men syndrome, was vruД‡a mladenka Filipinski an uncommon position that have an estimated frequency of a single inside the 20,000 males1). It can be classified for the several subgroups, SRY-confident or SRY-bad, with respect to the visibility or lack of the newest sex-determining region Y (SRY) gene. Everything 80% out of patients that have 46,XX testicular DSD has actually SRY on one off several X chromosomes, which is a result of unusual chromosomal translocation during the gametogenesis. But not, the rest 20% of men and women which have 46,XX testicular DSD is actually SRY-bad, and the cause for this disorder is simply unknown1). Very those with 46,XX testicular DSD with SRY possess typical genitalia and tend to be maybe not recognized until puberty doesn’t just do it normally. But not, SRY-negative folks are very likely to keeps uncertain genitalia than just SRY-confident some one. Ergo, 46,XX SRY-bad some body showing complete men genitalia are rare2).

The introduction of testes out of bipotential gonadal primordia was subject to advanced unit channels of phrases away from multiple genes. Among the many genetics, SRY to your Y-chromosome is actually a normal men-particular gene, hence initiates testis invention and you can directly upregulates this new SRY-related HMG package-that features gene nine (SOX9) gene phrase. SOX9 is actually a good transcription factor that have a DNA-joining site much like SRY, and you can plays a vital role regarding cascade away from gene interactions getting differentiation and you will development of the fresh testis3). In 1999, SOX9 overexpression within the a 46,XX gonad try defined as resulting in an induction regarding men genitalia regarding lack of SRY4). Although there was indeed a number of accounts at this point out of 46,XX SRY-negative people having duplication away from SOX94,5,six,7), SOX9 replication isn’t a common cause for 46,XX testicular DSD8). From inside the Korea, below 10 SRY-positive 46,XX customers was indeed claimed, and there are no account off 46,XX testicular DSD resulting from SOX9 duplication9).


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2024 年 7 月


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