• Disorders of sexual development (DSD), formerly termed 'intersex', are congenital abnormalities in the development of chromosomal (abnormalities in XX or XY sex chromosome number or structure), gonadal (testicular, ovarian and ovotesticular DSD, previously termed true hermaphrodite, or dysgenesis) or phenotypic (male or female with abnormalities of tubular and external genitalia) sex. (scielo.org.za)
  • In XY males, the activation of the sex-determining region Y chromosome gene (SRY) initiates testis development. (scielo.org.za)
  • DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. (biomedcentral.com)
  • The Sex determining Region on the Y gene ( SRY ) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. (biomedcentral.com)
  • Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
  • Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. (e-kjgm.org)
  • The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)
  • Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
  • In other rats, CRISPR-Cas9 technology was used to remove Y chromosome factors that initiate testis differentiation, producing fertile XY gonadal females that have XX and XY progeny with ovaries. (bvsalud.org)
  • These groups can be compared to detect sex differences caused by sex chromosome complement (XX vs. XY) and/or by gonadal hormones (rats with testes vs. ovaries). (bvsalud.org)
  • In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
  • SRY on the Y chromosome is the testis determining gene. (pediatricurologybook.com)
  • Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
  • Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
  • Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)
  • This terminal region of chromosome 9p (9p24.3 region) contains 3 types of DMRT genes ( DMRT1 - 3 ). (biomedcentral.com)
  • It is obvious that the Y chromosome must carry at least one essential gene which determines testicular formation (originally termed TDF ). (en-academic.com)
  • In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
  • Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
  • The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
  • Differences/disorders of sexual development (DSD) are classified into different categories: chromosomal variation, gonadal development disorders, abnormal genital development and others. (wikipedia.org)
  • This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)
  • The early stages of human differentiation appear to be quite similar to the same biological processes in other mammals and the interaction of genes, hormones and body structures is fairly well understood. (en-academic.com)
  • A gene in the sex-determining region of the short arm of the Y, now referred to as SRY , has been found to direct production of a protein which binds to DNA, inducing differentiation of cells derived from the genital ridges into testes. (en-academic.com)
  • In transgenic XX mice (and some human XX males ), SRY alone is sufficient to induce male differentiation. (en-academic.com)
  • Investigation of other cases of human sex reversal ( XX males , XY females ) has led to discovery of other genes crucial to testicular differentiation on autosomes (e.g. (en-academic.com)
  • SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
  • They are characterized by the presence of dysgenetic testis and/or streak gonads, with persistence of the Müllerian ducts and inadequate virilization, and classically have a 45,X/46,XY karyotype. (biomedcentral.com)
  • The gonads present may be bilateral ovotestes, or they may be a combination of a unilateral ovary or testis with an ovotestis on the contralateral side. (medscape.com)
  • Analysis of XY byg/byg gonads at 11.5 d post coitum reveals a growth deficit and a failure to support mesonephric cell migration, both early cellular processes normally associated with testis development. (plos.org)
  • Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
  • Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
  • Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)
  • To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
  • These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY . (e-kjgm.org)
  • 46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)
  • Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. (wikipedia.org)
  • The 2006 consensus definition is more expansive than what were previously referred to as intersex conditions, also including anatomic anomalies such as cloacal and bladder exstrophy and vaginal agenesis, and chromosomal abnormalities that do not cause atypical genitalia (e.g. (pediatricurologybook.com)
  • Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
  • These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
  • Additionally, testicular and ovarian tissue may develop on the same side of the pelvis as a separate ovary and testis. (medscape.com)
  • Figure 1 shows genes responsible for development of the undifferentiated gonad to either a testis or an ovary. (pediatricurologybook.com)
  • WNT4 is the ovary determining gene. (pediatricurologybook.com)
  • Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
  • The ovotestis can be anatomically located in an ovarian position, or along the anatomical path of the testes in the labioscrotal fold, the inguinal canal, or at the internal inguinal ring. (medscape.com)
  • Spermatogenesis in testis and ovotestis is rare given the high circulating estrogen levels. (medscape.com)
  • If the newborn has OT-DSD, the palpated gonad is most likely an ovotestis or testis and usually is located on the right side. (medscape.com)
  • Affected patients generally have normal genital development, yet are infertile and have small, poor functioning testes, breast growth and delayed puberty. (wikipedia.org)
  • Among those types of DMRT genes, DMRT1 is exclusively and highly expressed in the genital ridge and Sertoli cells [ 5 ]. (biomedcentral.com)
  • Methods: XY rats were produced with an autosomal transgene of Sry , the testis-determining factor gene, which were fathers of XX and XY progeny with testes. (bvsalud.org)
  • This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
  • The testes are ovoid (10 cm - 14 cm × 6 cm - 8 cm without the epididymis) and suspended into the scrotum with a vertical long axis. (scielo.org.za)
  • Cryptorchidism is a condition whereby one or both testes and the associated structures are absent in the scrotum because of a failure of the testes to descend from the pre-natal abdominal position. (scielo.org.za)
  • Testes are usually found in the scrotum, although they can be found at any level along the path of embryonic descent from abdomen to scrotum, frequently presenting as inguinal hernias. (medscape.com)
  • Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
  • Primary ovarian insufficiency is primarily idiopathic, but it can also be seen in association with chromosomal and genetic defects, including Turner syndrome (45,X karyotype) and FMR1 premutation. (lecturio.com)
  • These processes for sex determination do not occur in females in the absence of SRY . (e-kjgm.org)
  • Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)
  • These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
  • SRY -negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. (e-kjgm.org)
  • We report three rare cases of SRY -negative 46,XX testicular disorders of sex development. (e-kjgm.org)
  • Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
  • Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
  • Integrative multi-omics analysis revealed a critical role for UTX in regulating chromatin accessibility and gene expression critical for NK cell homeostasis and effector function. (bvsalud.org)
  • Moreover, we describe experiments showing the presence of activated MKK4, a direct target of MAP3K4, and activated p38 in the coelomic region of the XY gonad at 11.5 d post coitum, establishing a link between MAPK signalling in proliferating gonadal somatic cells and regulation of Sry expression. (plos.org)
  • Testis secretions promote the masculinisation of the internal and external male genitalia. (scielo.org.za)
  • Anti-Mullerian hormone (Mullerian inhibiting substance) causes regression of the paramesonephric duct (Mullerian duct, which forms the female internal genitalia in XX animals), although testosterone drives the development of the male tubular tract, accessory glands and external genitalia, and together with insulin-like factor 3 (INSL3) the descent of the testes. (scielo.org.za)
  • However, recent research has shown that gene and protein networks under non-hormonal control also account for cardiac sex differences. (bvsalud.org)
  • Specific genes induce gonadal differences, which produce hormonal differences, which cause anatomic differences, leading to psychological and behavioral differences, some of which are innate and some induced by the social environment . (en-academic.com)
  • They exert their biological functions by competitively binding to microRNAs (miRNAs) as miRNA sponges, promoting gene transcription and participating in the regulation of selective splicing, interacting with proteins and being translated into proteins. (biomedcentral.com)
  • To our knowledge, there have been very few cases of XY DSD caused by DMRT1 gene abnormality reported. (biomedcentral.com)
  • Psychosexual development is influenced by numerous factors that include, but are not limited to, gender differences in brain structure, genes associated with sexual development, prenatal androgen exposure, interactions with family, and cultural and societal factors. (wikipedia.org)
  • Sex differences may be induced by specific genes , by hormones, by anatomy , or by social learning . (en-academic.com)
  • The development of a mammalian embryo into either female or male is primarily dependent on the sex chromosomal constitution, being XX and XY respectively. (biomedcentral.com)
  • This will further orchestrate the formation of a functional testis, ultimately leading to the development of male primary and secondary sex characteristics [ 2 ]. (biomedcentral.com)
  • Abdominal testis translocation is dependent on INSL3 and only partially on testosterone, although the inguinoscrotal migration is androgen reliant (Amann & Veeramachaneni 2007). (scielo.org.za)
  • The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
  • Genetic diversity of porcine PRLR gene and its relationship to litter size in Large White pigs. (krakow.pl)
  • The testes were intra-abdominal, smaller and less ovoid than in normal male giraffes. (scielo.org.za)
  • The right testis was situated more cranially than the left and connected to a longer deferent duct with normal ampullae. (scielo.org.za)
  • The results demonstrate that aberrations in SRY are rare in mosaic DSD patients and therefore do not play a significant role in the etiology of the disease. (biomedcentral.com)