Complete androgen insensitivity syndrome

Genetics of infertility

XX gonadal dysgenesis

XY gonadal dysgenesis

45,X/46,XY mosaicism

XX male syndrome

ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

True hermaphroditism

History of intersex surgery

XYY syndrome

Testis-determining factor

Pediatric gynaecology

Partial androgen insensitivity syndrome

Y chromosome

M33 (gene)

Kromosomang Y, ang malayang ensiklopedya

Turner syndrome

Persistent Müllerian duct syndrome

Y chromosome

టర్నర్ సిండ్రోమ్ - వికీపీడియా

Syndrome2

• Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. (wikipedia.org)
• Partial androgen insensitivity syndrome is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to partially prevent the masculinization of the genitalia, but is not great enough to completely prevent genital masculinization. (wikipedia.org)

Pure gonadal dy18

• The present study was undertaken for the genetic analysis in seven patients from five families presenting with primary amenorrhea and diagnosed with pure gonadal dysgenesis. (nih.gov)
• The finding of bilateral streak gonads in phenotypic females with a 46,XX or 46,XY karyotype characterizes pure gonadal dysgenesis. (scielo.br)
• The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. (wikipedia.org)
• Pure gonadal dysgenesis (or Swyer syndrome) is characterised by a 46,XY karyotype in a female phenotypic patient. (thefreedictionary.com)
• The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. (wikipedia.org)
• Pure gonadal dysgenesis (streak gonads) occurs in phenotypic females with normal chromosomal make-up. (psychiatryadvisor.com)
• Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea. (psychiatryadvisor.com)
• Primary amenorrhea occurs in patients with pure gonadal dysgenesis because of absent or limited ovarian function due to inappropriate development. (psychiatryadvisor.com)
• Physical exam of patients with primary amenorrhea due to pure gonadal dysgenesis (PGD) may reveal a small woman with normal, unambiguous female genitalia with minimal development of secondary sex characteristics (pubic hair, but no breast development). (psychiatryadvisor.com)
• Pure gonadal dysgenesis - a female child who has a 46, XY karyotype, underdeveloped gonads, internal female reproductive organs and female external genitalia. (chw.org)
• The diagnosis of pure gonadal dysgenesis (Swyer's syndrome), which belongs to the disorders of sexual differentiation, was assessed. (prolekare.cz)
• Identification and molecular modeling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (prolekare.cz)
• 11. Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y. Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. (prolekare.cz)
• Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. (medlineplus.gov)
• Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. (medlineplus.gov)
• Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (medlineplus.gov)
• This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis. (biomedcentral.com)
• Dysgerminoma developed in 3 phenotypic female patients with 46 XY pure gonadal dysgenesis. (biomedcentral.com)

Complete gonadal10

• Complete gonadal dysgenesis with XY chromosomal constitution. (prolekare.cz)
• The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. (bvsalud.org)
• Swyer syndrome is characterized by complete gonadal dysgenesis in a phenotypically female who has a 46, XY karyotype. (lecturio.com)
• Complete gonadal dysgenesis (CGD) - no gonadal development occurs, and, as a consequence, patients have a completely female phenotype due to the lack of any gonadal steroid production. (fertilitypedia.org)
• A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. (cdc.gov)
• Individuals have a 46, XY karyotype and present with female external genitalia, complete gonadal dysgenesis and have a higher risk of gonadoblastoma. (cdc.gov)
• Complete gonadal dysgenesis results in infertility, female external genitalia and presence of Mullerian structures. (cdc.gov)
• 46,XY individuals with complete gonadal dysgenesis are infertile. (cdc.gov)
• To determine and clarify the presence and functional consequence of the deleterious mutation in MAP3K1 gene of the patient with 46, XY complete gonadal dysgenesis (46, XY CGD). (eurospe.org)
• Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral. (naver.com)

Phenotype11

• Male pseudohermaphroditism is an intersex condition in which the carriers show a phenotype that includes external female genitalia, but a male genetic and gonadal sex. (springer.com)
• The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. (genome.jp)
• Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. (genome.jp)
• Male pseudohermaphroditism is one of the intersexed type, inherited as a sex-linked recessive disorder ranging from the mild cases with hypospadias, cleft scrotum, persistent urogenital sinus, and undescended testes, to the severe alteration in phenotype resulting in testicular agenesis (Turner's syndrome), or dysgenesis (testicular feminization syndrome). (hindawi.com)
• The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/46,X+mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome. (bmj.com)
• Full monosomy will be demonstrated by X (45,X). The presence of a mosaic line (45,X/46,XX) may indicate a milder phenotype, depending on what tissues contain the normal or 45,X cell line. (oncologynurseadvisor.com)
• Partial gonadal dysgenesis (PGD) - Y chromosome is present, there is incomplete testis determination and the external observable characteristics or traits (phenotype) depend on the degree of testicular function. (fertilitypedia.org)
• We report here a mosaic 45,X/46,XY infertile man with azoospermia factor (AZF) deletion and normal male phenotype. (jcrpe.org)
• Our aim is to emphasize that Y chromosome microdeletions should be analyzed in 45,X/46,XY mosaic karyotype detected in infertile men with normal phenotype. (jcrpe.org)
• Complete SRY-positive 46,XX gonadal dysgenesis can lead to a male phenotype in the presence of a female karyotype resulting from the translocation of part of the Y chromosome containing the SRY gene to an X chromosome. (cancertherapyadvisor.com)
• TS with mosaic 45, X/46, XY karyotype comprises a phenotype spectrum of female (10-15%) having mutated SRY and an increased risk for developing of gonadoblastoma or dysgerminoma [ 4 ]. (biomedcentral.com)

Reversal11

• A condition (OMIM:400044) characterised by male-to-female sex reversal in the presence of a normal 46,XY karyotype. (thefreedictionary.com)
• The novel SRY mutation caused the sex reversal in this 46,XY female patient. (bvsalud.org)
• Where karyotyping is indicated, pre-testing genetic counselling on the possibility of detecting sex reversal should be offered. (cdc.gov)
• These findings substantially increase the number of NR5A1 mutations reported in humans and show that mutations in NR5A1 can be found in patients with a wide range of phenotypic features, ranging from 46, XY sex reversal with primary adrenal failure to male infertility. (clubalthea.com)
• Diseases associated with MAP3K1 include 46,Xy Sex Reversal 6 and 46,Xy Partial Gonadal Dysgenesis . (genecards.org)
• Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell tumours if the karyotype also includes the so-called GonadoBlastoma on the Y chromosome (GBY) region. (biomedcentral.com)
• Diseases associated with SRY include 46,Xx Sex Reversal 1 and 46,Xy Sex Reversal 1 . (genecards.org)
• So, going back to the hypothesis for 46,XX gonadal sex reversal, the theory was that the gene (or genes) on the Y-chromosome that conferred male sex determination was being transferred to the X-chromosome during meiotic non-homologous recombination. (americantransman.com)
• Of individuals that have XY chromosomes but develop as females (male-to-female sex reversal), the absence of the SRY gene on the Y-chromosome can account for the genetic sex reversal in only 15% of these individuals. (americantransman.com)
• Similarly, of individuals carrying XX chromosomes and develop as males (female-to-male sex reversal, also known as 46,XX testicular DSD) the presence of the SRY gene on one of the X-chromosomes of these individuals accounts for only 75% of the known cases (reviewed in Nef & Vassalli, 2009). (americantransman.com)
• Mutation analysis of subjects with 46,XX sex reversal and 46,XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. (norsu.info)

Primary amenorrhea5

• Thus, the laboratory work-up for primary amenorrhea due to gonadal dysgenesis should include measurement of human chorionic gonadotropin (hCG) to rule out pregnancy only in patients that have undergone IVF. (psychiatryadvisor.com)
• These patients are often diagnosed when evaluated for primary amenorrhea since, until the current report, the classic description of Frasier syndrome patients has been limited to XY females. (asnjournals.org)
• At age 16, evaluation of primary amenorrhea revealed a 46,XY karyotype (with presence of SRY by fluorescence in situ hybridization), Tanner II breast development and unambiguous female genitalia. (asnjournals.org)
• It is the third most common cause of primary amenorrhea after gonadal dysgenesis and Mullerian agenesis . (urotoday.com)
• Here we reported a unique case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype after sex-mismatched allo-HSCT, finally detected her personal identification as a female by hair follicle samples and hormone treatment has been used to recover her menstruation. (scireslit.com)

Congenital6

• The term disorder of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. (bmj.com)
• and 46, XX DSD (e.g., congenital adrenal hyperplasia). (societyofpediatricpsychology.org)
• grade II) and conditions with a 46, XX karyotype (including Congenital Adrenal Hyperplasia (CAH) in females, GD and XX men). (biomedcentral.com)
• The most common cause of 46 XX DSD is congenital adrenal hyperplasia (CAH). (chop.edu)
• Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype? (thefreedictionary.com)
• In 46,XX karyotype patients (n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)

Partial7

• The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). (scielo.br)
• Mutations in SRY and WT1 genes required for gonadal develepment are not responsible for XY partial gonadal dysgenesis. (prolekare.cz)
• Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM: (abcam.com)
• Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. (eurospe.org)
• Conclusions: This is the first reported case of 46, XY partial gonadal dysgenesis accompanied by neuropathy caused by a DHH homozygous missense mutation [c.1027T>C (p. (eurospe.org)
• SRY gene mutations that impair but do not eliminate the function of the sex-determining region Y protein have been identified in a small number of people with 46,XY disorder of sex development, or partial gonadal dysgenesis. (medlineplus.gov)
• Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. (cdc.gov)

Testicular dysgenesis3

• Testicular dysgenesis affecting the seminiferous tubules principally, with chromatin-positive nuclei. (thefreedictionary.com)
• SRY is also crucially important in human testis determination, although only approximately 5% of individuals with testicular dysgenesis have disruption of this transcription factor. (biomedcentral.com)
• Less advanced testicular dysgenesis is associated by a higher prevalence of germ cell neoplasia. (semanticscholar.org)

Ovaries1

• When the Genetics of Gonadal Differentiation & Development Don't Go According to Plan - Part 3 of Where Do Ovaries (and Testes) Come From? (americantransman.com)

Mosaic karyotype4

• Therefore, structural chromosomal abnormalities of Y chromosome can be observed in individuals with 45,X/46,XY mosaic karyotype. (jcrpe.org)
• 45,X/46,XY mosaic karyotype and AZF deletion were not hereditary. (jcrpe.org)
• Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. (cdc.gov)
• Almost half of the cases have typical TS karyotype (45, X), whereas the remaining cases either have a derivative sex chromosome in the investigated cells or a mosaic karyotype, with the second cell line having a normal or structurally rearranged sex chromosome. (biomedcentral.com)

Gene3

• Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome. (wikipedia.org)
• An important gene associated with 46 Xy Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways is Deactivation of the beta-catenin transactivating complex . (malacards.org)
• The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. (asnjournals.org)

Females2

• In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. (wikipedia.org)
• With the advancements in karyotyping and chromosomal analyses, more information was derived about 46,XX individuals lacking a Y-chromosome who developed as males and 46,XY individuals who developed as females with ovarian gonadal dysgenesis. (americantransman.com)

Abnormalities2

• A classification was also proposed in which DSD associated with sex chromosome abnormalities (Sex Chromosome DSD) were separated from those with a normal chromosome complement (46,XX DSD and 46,XY DSD) ( Table 1 ). (scielo.br)
• Targeted disruption of NR5A1 (Ftzf1) in mice results in gonadal and adrenal agenesis, persistence of Mullerian structures and abnormalities of the hypothalamus and pituitary gonadotropes. (clubalthea.com)

Diagnosis9

• Detection of a 45,X lineage changed both the diagnosis to MGD and also the prognosis.The number of cells analyzed in karyotyping is critical. (scielo.br)
• At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. (wikipedia.org)
• In 46,XX newborns, serum AMH measurement can easily detect the existence of testicular tissue, leading to the diagnosis of ovotesticular DSD. (frontiersin.org)
• Targeted next-generation sequencing (NGS) panels can be valuable for the parallel analysis of many genes simultaneously, especially for forms of 46,XY DSD ( b ) where the diagnosis is unclear. (biomedcentral.com)
• Results provide for classification as an guide toward an etiologic diagnosis of 46,XX DSD, 46,XY DSD, or sex chromosome DSD. (endocrinologyadvisor.com)
• [email protected]#Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling. (bvsalud.org)
• [email protected]#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis. (bvsalud.org)
• Gonadectomy after diagnosis of XY karyotype was done. (biomedcentral.com)
• the median ages at TS diagnosis were 5.2 years in the group of patients with a 45,X karyotype and 8.2 years in the group of patients with other chromosome constitutions. (biomedcentral.com)

Chromosome karyotype2

• Howerver, the chromosome karyotype was 46,XY. (bvsalud.org)
• [email protected]#Fetal chromosome karyotype was analyzed by G-banding. (bvsalud.org)

Agenesis3

• There is agenesis or dysgenesis of the cerebellar vermis and isthmic portion of the brainstem. (thefreedictionary.com)
• If the patient has abnormal uterine development, müllerian agenesis is the likely cause and a karyotype analysis should confirm that the patient is 46,XX. (aafp.org)
• This concept includes gonadal agenesis. (umassmed.edu)

Cases with gonadal dysgenesis1

• Surgery discovered dysgerminoma or gonadoblastoma in two cases with gonadal dysgenesis. (biomedcentral.com)

Risk of gonadal1

• 3 4 The risk of gonadal tumours, such as gonadoblastoma, has been estimated to be high in both patients with DMPH and MGD. (bmj.com)

Either 461

• In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY. (wikipedia.org)

Peripheral5

• Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis. (bvsalud.org)
• [email protected]#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. (bvsalud.org)
• Peripheral blood karyotype does not necessarily reflect gonadal type. (blogspot.com)
• Karyotype analysis of peripheral blood was performed for the azospermic and infertile male. (jcrpe.org)
• We hereby report an 11-year-old child with an OT-DSD and a 46,XX/46,XY karyotype in the cultures from peripheral lymphocytes, skin fibroblasts and two kinds of gonadal tissues. (biomedcentral.com)

Normal8

• Karyotype 46,XY (16 cells), normal hormone levels. (scielo.br)
• In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. (frontiersin.org)
• O cariótipo era 46,X,inv(Y)(p11.1q11.2), com sequência normal do SRY e ausência de deleções do Y. (scielo.br)
• however, in contrast to the picture seen in XY individuals, patients with a XX karyotype have apparently normal ovarian development. (asnjournals.org)
• All three patients showed a normal male 46,XY karyotype, without obvious genetic rearrangements by high-resolution whole-genome copy number analysis. (hindawi.com)
• The parents of both fetuses were normal by chromosomal karyotyping and SNP-array. (bvsalud.org)
• Around 50% of cases are due to full monosomy of chromosome X (45,X), 20%-30% of cases are mosaic with a normal and abnormal cell line (45,X/46,XX or other line), and the remaining 20%-30% are caused by a structural variant. (oncologynurseadvisor.com)
• The first step is known XY sex differentiation is a normal fetal testis development. (blogspot.com)

Disorder2

• He was diagnosed with reticular dysgenesis , which is a rare genetic disorder of the bone marrow and the most severe form of severe combined immunodeficiency. (thefreedictionary.com)
• Gonadal dysgenesis (GD) is a disorder of sex development. (genome.jp)

Anomalies2

• There are numerous etiologies including outflow tract obstructions, gonadal dysgenesis, and anomalies of the hypothalamic axis . (scireslit.com)
• Such anomalies can be identified during cytogenetic studies (analysis of the karyotype). (kindcare.ae)

Phenotypes2

• We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. (biomedcentral.com)
• We analyzed data obtained from 114 cases of 46,XY DSD and 26 cases of anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. (biomedcentral.com)

NR5A11

• Mutation analysis of the SRY, NR5A1 and DHH genes in six Chinese 46. (springer.com)

Reproductive1

• Initially, the internal reproductive tract is identical in XX and XY embryos. (frontiersin.org)

Forms of 461

• This study reveals a surprisingly high frequency of familial forms of 46,XY DSD and anorchia when premature menopause or male factor infertility are included. (biomedcentral.com)

Bilateral1

• A retrospective study chart review was performed for 114 patients with 46,XY DSD and 26 patients with 46,XY bilateral anorchia examined at a single institution over a 33 year period. (biomedcentral.com)

Monosomy1

• Complete 45,X monosomy accounts for 40-60% of the karyotypes. (patient.info)

Chromosomal abnormality2

• Blood karyotyping was performed which surprisingly revealed a chromosomal abnormality with 46, XY. (hindawi.com)
• The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. (cdc.gov)