{"Name":"Pure gonadal dysgenesis 46,XY","DiseaseID__c":"GARD:0005068","id":5068,"encodedName":"pure-gonadal-dysgenesis-46xy","IsDeleted":false,"Disease_Name_Full__c":"Pure gonadal dysgenesis 46,XY","Xref_IDs__c":"95218005; C120198; C2936694; D006061; DOID:14448; MEDGEN:445380; MONDO:0010765; OMIMPS:400044; ORPHA:242","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010765","Disease_Description__c":"A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.","GARD_Name__c":"Pure gonadal dysgenesis 46,XY","GARD_Synonym__c":"46 xy gonadal dysgenesis; 46, xy cgd; 46, xy complete gonadal dysgenesis; 46, xy pure gonadal dysgenesis; 46,xy cgd; 46,xy complete gonadal dysgenesis; 46,xy gonadal dysgenesis; 46,xy pure gonadal dysgenesis; 46,xy sex reversal; gonadal dysgenesis, xy female type; swyer syndrome","Curated_Disease_Description_Source__c":"GARD:0005068","Curated_Disease_Description__c":"Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern. Chromosomes  contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures. People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means 'abnormal development.' Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010765","ORPHANET_ID__c":"ORPHA:242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia gonadal completa 46,xy","Spanish_Description_Source__c":"ORPHA:242","Spanish_Description__c":"Es una anomalía del desarrollo sexual o desarrollo sexual diferente (DSD) poco frecuente asociado con ausencia de desarrollo gonadal que resulta en la presencia de genitales externos e internos aparentemente femeninos en personas con un cariotipo 46,XY.","Spanish_Disease_Name__c":"disgenesia gonadal completa 46,xy","Spanish_GARD_Synonym__c":"cgd 46,xy; disgenesia gonadal pura 46,xy; síndrome de swyer","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern. Chromosomes  contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures. People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means 'abnormal development.' Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.","Curated_Disease_Description_Source__c":"GARD:0005068","GARD_Synonym__c":"46 xy gonadal dysgenesis; 46, xy cgd; 46, xy complete gonadal dysgenesis; 46, xy pure gonadal dysgenesis; 46,xy cgd; 46,xy complete gonadal dysgenesis; 46,xy gonadal dysgenesis; 46,xy pure gonadal dysgenesis; 46,xy sex reversal; gonadal dysgenesis, xy female type; swyer syndrome","Name":"Pure gonadal dysgenesis 46,XY","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:242"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:242"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0949595"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2936694"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005068","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1547","Source__c":"Gene Review","Xref__c":"NBK1547"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95218005","Source__c":"C2936694; MONDO:0010765","Xref__c":"95218005"},{"URL__c":"https://www.orpha.net/en/disease/detail/242","Source__c":"C2936694; MONDO:0010765; ORPHA:242","Xref__c":"ORPHA:242"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14448","Source__c":"MONDO:0010765","Xref__c":"DOID:14448"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120198","Source__c":"MONDO:0010765","Xref__c":"C120198"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS400044","Source__c":"MONDO:0010765","Xref__c":"OMIMPS:400044"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006061","Source__c":"MONDO:0010765","Xref__c":"D006061"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936694","Source__c":"C2936694","Xref__c":"C2936694"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=445380","Source__c":"C2936694","Xref__c":"MEDGEN:445380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010765","Source__c":"GARD:0005068","Xref__c":"MONDO:0010765"},{"URL__c":"https://medlineplus.gov/genetics/condition/swyer-syndrome","Source__c":"GARD:0005068","Xref__c":"https://medlineplus.gov/genetics/condition/swyer-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dhh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DHX37","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CBX2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAP3K1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/map3k1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NR5A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr5a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NR0B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr0b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SRY","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sry","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","X-linked recessive","Y-linked","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000037","HPO_Name__c":"Male pseudohermaphroditism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008733","HPO_Synonym__c":"Dysplastic testes","HPO_Name__c":"Dysplastic testis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["46 xy gonadal dysgenesis"," 46, xy cgd"," 46, xy complete gonadal dysgenesis"," 46, xy pure gonadal dysgenesis"," 46,xy cgd"," 46,xy complete gonadal dysgenesis"," 46,xy gonadal dysgenesis"," 46,xy pure gonadal dysgenesis"," 46,xy sex reversal"," gonadal dysgenesis, xy female type"," swyer syndrome"]}