A Korean child that have 46,XX testicular diseases off sex development because of SOX9 duplication

A Korean child that have 46,XX testicular diseases off sex development because of SOX9 duplication

Sei Claimed Yang

Select blogs by the Sei Acquired Yang 1 Company of Pediatrics, Seoul Federal School School out-of Drug, Seoul, Korea. Corresponding writer.

Address having correspondence: Jung Min Ko, MD, PhD. Department out of Pediatrics, Seoul Federal School Child’s Hospital, Seoul National University College from Medication, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3570, Fax: +82-2-743-3455,

That is an open Availableness blog post marketed beneath the regards to the newest Innovative Commons Attribution Non-Industrial Permit ( and this permits open-ended non-industrial explore, shipment, and you may reproduction in virtually any typical, provided the original work is safely cited.


New 46,XX testicular problems from sex invention (DSD), labeled as 46,XX male problem, is actually an unusual style of DSD and you may systematic phenotype shows over sex reversal off feminine in order to male. This new sex-determining part Y (SRY) gene is going to be known in most 46,XX testicular DSD people; although not, everything 20% away from clients that have 46,XX testicular DSD is actually SRY-bad. The new SRY-box 9 (SOX9) gene has several crucial qualities throughout the testis advancement and you will differentiation within the males, and overexpression of SOX9 contributes to the male development of 46,XX gonads regarding absence of SRY. Simultaneously, SOX9 duplication is known to be an unusual factor in 46,XX testicular DSD in people. Right here, we report a great cuatro.2-year-dated SRY-negative 46,XX son having over sex reverse due to SOX9 duplication having the first time within the Korea. The guy displayed normal external and internal men genitalia except for brief testes. Fluorescence in situ hybridization and you can polymerase chain reaction (PCR) analyses don’t find the current presence of SRY, and you will SOX9 intragenic mutation was not acknowledged by head sequencing investigation. Hence, i performed genuine-big date PCR analyses which have certain primer sets, and you may replication of the SOX9 gene try revealed. Even though SRY-negative 46,XX testicular DSD try an uncommon updates, an endeavor and then make an exact diagnosis is important to the supply from proper genetic guidance and at the rear of clients within their long-term government.


This new 46,XX testicular disease from sex invention (DSD), also known as 46,XX male disorder, was an unusual condition with an estimated incidence of 1 from inside the 20,000 males1). It could be categorized on one or two subgroups, SRY-self-confident or SRY-negative, with regards to the presence otherwise lack of the new sex-deciding part Y (SRY) gene. Whenever 80% regarding patients which have 46,XX testicular DSD keeps SRY using one of a couple of X chromosomes, and therefore is a result of irregular chromosomal translocation throughout the gametogenesis. Although not, the remaining 20% of people with 46,XX testicular DSD is SRY-bad, and cause for this condition is largely unknown1). Extremely people with 46,XX testicular DSD having SRY possess typical genitalia as they are maybe not recognized up until adolescence cannot proceed generally speaking. Yet not, SRY-negative individuals are expected to have confusing genitalia than simply SRY-confident anyone. For this reason, 46,XX SRY-negative some one showing done male genitalia can be rare2).

The development of testes off bipotential gonadal primordia try subject to advanced molecular sites from phrases from numerous family genes. One of the genetics, SRY into Y-chromosome is a consistent men-certain gene, hence starts testis innovation and you will physically upregulates new SRY-associated HMG field-containing gene nine (SOX9) gene phrase. SOX9 try good transcription basis with an effective DNA-binding website nearly the same as SRY, and you may plays a crucial role on cascade away from gene interactions to possess differentiation and growth of the brand new testis3). Into the 1999, SOX9 overexpression when you look at the good 46,XX gonad is defined as resulting in an enthusiastic induction from men genitalia regarding the lack of SRY4). Even though there was indeed several profile yet from 46,XX SRY-bad customers having duplication away from SOX94,5,six,7), SOX9 duplication is not a common factor in 46,XX testicular DSD8). Into the Korea, below ten SRY-self-confident 46,XX clients was https://kissbrides.com/hr/pored/mlade-slobodne-zene/ in fact said, and there are no profile of 46,XX testicular DSD through SOX9 duplication9).

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