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A Korean man which have 46,XX testicular infection out of sex advancement caused by SOX9 replication

A Korean man which have 46,XX testicular infection out of sex advancement caused by SOX9 replication

Sei Won Yang

Come across content by the Sei Acquired Yang 1 Service from Pediatrics, Seoul Federal College University from Treatments, Seoul, Korea. Corresponding writer.

Target to own correspondence: Jung Min Ko, MD, PhD. Institution out-of Pediatrics, Seoul National College Child’s Healthcare, Seoul Federal School University 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 open Supply article distributed beneath the terms of new Imaginative Commons Attribution Non-Commercial License ( and this it permits open-ended low-commercial explore, delivery, and reproduction in almost any typical, considering the first work is safely cited.


Brand new 46,XX testicular illness away from sex creativity (DSD), also known as 46,XX male disorder, is actually a rare style of DSD and you may clinical phenotype reveals done sex reverse off women to male. The fresh new sex-deciding region Y (SRY) gene should be understood in the most common 46,XX testicular DSD customers; however, just as much as 20% out of clients that have 46,XX testicular DSD is actually SRY-bad. The newest SRY-package 9 (SOX9) gene has several crucial attributes during testis development and you can distinction within the men, and you will overexpression out-of SOX9 causes a man growth of 46,XX gonads about lack of SRY. Likewise, SOX9 duplication has been discovered are a rare cause for 46,XX testicular DSD inside the individuals. Here, i statement a cuatro.2-year-dated SRY-bad 46,XX son with complete sex reversal caused by SOX9 replication to possess the first occasion when you look at the Korea. He presented normal internal and external male genitalia except for quick testes. Fluorescence in the situ hybridization and you may polymerase strings effect (PCR) analyses didn’t detect the current presence of SRY, and you can SOX9 intragenic mutation was not acquiesced by direct sequencing study. Therefore, we did genuine-day PCR analyses which have particular primer sets, and you will duplication of one’s SOX9 gene is actually revealed. Regardless if SRY-bad 46,XX testicular DSD is actually an uncommon condition, an attempt and come up with an accurate prognosis is important on provision regarding right hereditary guidance as well as for at the rear of clients within long-title management JuЕѕna Afrika Еѕene.


The brand new 46,XX testicular illness out-of sex creativity (DSD), labeled as 46,XX men syndrome, was an uncommon standing that have an estimated frequency of 1 into the 20,000 males1). It may be categorized to the a couple of subgroups, SRY-self-confident otherwise SRY-bad, with respect to the presence or lack of the sex-deciding area Y (SRY) gene. Approximately 80% of clients having 46,XX testicular DSD features SRY on one from a couple of X chromosomes, which results from irregular chromosomal translocation through the gametogenesis. Although not, the remaining 20% of individuals with 46,XX testicular DSD try SRY-bad, plus the cause for this problem is largely unknown1). Most those with 46,XX testicular DSD having SRY features typical genitalia as they are perhaps not recognized up until puberty does not go-ahead normally. Although not, SRY-negative everyone is likely to features uncertain genitalia than SRY-positive some body. Thus, 46,XX SRY-bad people exhibiting over men genitalia are rare2).

The development of testes of bipotential gonadal primordia try controlled by cutting-edge unit systems out of expressions of several genes. Among the many family genes, SRY for the Y chromosome is actually a routine male-specific gene, and therefore initiates testis creativity and you can really upregulates the brand new SRY-relevant HMG field-with gene nine (SOX9) gene term. SOX9 was a transcription grounds with an excellent DNA-joining website nearly the same as SRY, and you may performs a vital role in the cascade out-of gene affairs having distinction and you can growth of the brand new testis3). In the 1999, SOX9 overexpression in the an effective 46,XX gonad was identified as causing an enthusiastic induction away from men genitalia on lack of SRY4). Although there was basically several account at this point regarding 46,XX SRY-bad people with duplication regarding SOX94,5,6,7), SOX9 replication is not a familiar cause for 46,XX testicular DSD8). In the Korea, lower than 10 SRY-confident 46,XX customers was basically said, so there are not any accounts off 46,XX testicular DSD because of SOX9 duplication9).

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