{"Name":"46,XX testicular disorder of sex development","DiseaseID__c":"GARD:0000399","id":399,"encodedName":"46xx-testicular-disorder-of-sex-development","IsDeleted":false,"Disease_Name_Full__c":"46,XX testicular disorder of sex development","Xref_IDs__c":"890089005; C127170; C2936419; D058531; DOID:0111760; MEDGEN:424734; MONDO:0100249; ORPHA:393","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0100249","Disease_Description__c":"A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.","GARD_Name__c":"46,XX testicular disorder of sex development","GARD_Synonym__c":"46,xx gonadal dysgenesis; 46,xx testicular differences of sex development; 46,xx testicular disorders of sex development; 46,xx testicular dsd; de la chapelle syndrome; xx male syndrome; xx, male syndrome","Curated_Disease_Description_Source__c":"GARD:0000399","Curated_Disease_Description__c":"46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They generally have small testes and may also have other features such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female. At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this condition are usually shorter than average for males and are unable to have children (infertile).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:393","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100249","ORPHANET_ID__c":"ORPHA:393","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente testicular 46,xx","Spanish_Description_Source__c":"ORPHA:393","Spanish_Description__c":"Es una forma poco frecuente de desarrollo sexual diferente (DSD) asociada con un cariotipo 46, XX y caracterizada por genitales externos masculinos de aparicncia normal o atípica con una deficiencia de testosterona asociada.","Spanish_Disease_Name__c":"desarrollo sexual diferente testicular 46,xx","Spanish_GARD_Synonym__c":"dsd testicular 46,xx; síndrome de de la chapelle; síndrome del varón xx; trastorno del desarrollo sexual testicular 46,xx","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":"46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They generally have small testes and may also have other features such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female. At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this condition are usually shorter than average for males and are unable to have children (infertile).","Curated_Disease_Description_Source__c":"GARD:0000399","GARD_Synonym__c":"46,xx gonadal dysgenesis; 46,xx testicular differences of sex development; 46,xx testicular disorders of sex development; 46,xx testicular dsd; de la chapelle syndrome; xx male syndrome; xx, male syndrome","Name":"46,XX testicular disorder of sex development","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:393"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:393"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:393"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2936419"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000399","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1416","Source__c":"Gene Review","Xref__c":"NBK1416"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936419","Source__c":"C2936419","Xref__c":"C2936419"},{"URL__c":"https://www.orpha.net/en/disease/detail/393","Source__c":"C2936419; MONDO:0100249; ORPHA:393","Xref__c":"ORPHA:393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058531","Source__c":"C2936419; MONDO:0100249","Xref__c":"D058531"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111760","Source__c":"MONDO:0100249","Xref__c":"DOID:0111760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=424734","Source__c":"C2936419","Xref__c":"MEDGEN:424734"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127170","Source__c":"C2936419; MONDO:0100249","Xref__c":"C127170"},{"URL__c":"https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development","Source__c":"GARD:0000399","Xref__c":"https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100249","Source__c":"GARD:0000399","Xref__c":"MONDO:0100249"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=890089005","Source__c":"C2936419","Xref__c":"890089005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR5A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr5a1","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":"SOX3","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 dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:393","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:393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["46,xx gonadal dysgenesis"," 46,xx testicular differences of sex development"," 46,xx testicular disorders of sex development"," 46,xx testicular dsd"," de la chapelle syndrome"," xx male syndrome"," xx, male syndrome"],"spanishId":11994,"spanishName":"trastorno-testicular-del-desarrollo-sexual-46xx"}