{"Name":"3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency","DiseaseID__c":"GARD:0005680","id":5680,"encodedName":"3-oxo-5-alpha-steroid-delta-4-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency","Xref_IDs__c":"57514000; C0268297; C535830; C98699; MEDGEN:75667; MONDO:0009923; OMIM:264600; ORPHA:753","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009923","Disease_Description__c":"A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.","GARD_Name__c":"3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency","GARD_Synonym__c":"46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency; 46,xy dsd due to 5-alpha-reductase 2 deficiency; 5 alpha steroid reductase 2 deficiency; familial incomplete male pseudohermaphroditism type 2; familial incomplete male pseudohermaphroditism, type 2; male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency; male pseudohermaphroditism due to 5-alpha-reductase deficiency; ppsh; ppsh - pseudovaginal perineoscrotal hypospadias; pseudovaginal perineoscrotal hypospadias; steroid 5-alpha-reductase 2 deficiency; steroid 5-alpha-reductase deficiency","Curated_Disease_Description_Source__c":"GARD:0005680","Curated_Disease_Description__c":"5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency have external genitalia that appears female. In other cases, affected infants have male-typical external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants have external genitalia do not look clearly male or clearly female. During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) may grow larger. People with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children (infertile) without assisted reproduction.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:753","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009923","ORPHANET_ID__c":"ORPHA:753","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente 46,xy por deficiencia de 5-alfa-reductasa 2","Spanish_Description_Source__c":"ORPHA:753","Spanish_Description__c":"Es un desarrollo sexual diferente (DSD) poco frecuente debido a un defecto de metabolización de la testosterona a dihidrotestosterona y caracterizado por masculinización intrauterina incompleta que varía desde genitales femeninos con una bolsa vaginal ciega hasta un fenotipo completamente masculino con hipospadias pseudovaginal posterior y micropene.","Spanish_Disease_Name__c":"desarrollo sexual diferente 46,xy por deficiencia de 5-alfa-reductasa 2","Spanish_GARD_Synonym__c":"deficiencia de esteroide 5-alfa-reductasa; dsd 46,xy por deficiencia de 5-alfa-reductasa 2; hipospadias perineoescrotal pseudovaginal; trastorno del desarrollo sexual 46,xy por deficiencia de 5-alfa-reductasa 2","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":"5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency have external genitalia that appears female. In other cases, affected infants have male-typical external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants have external genitalia do not look clearly male or clearly female. During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) may grow larger. People with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children (infertile) without assisted reproduction.","Curated_Disease_Description_Source__c":"GARD:0005680","GARD_Synonym__c":"46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency; 46,xy dsd due to 5-alpha-reductase 2 deficiency; 5 alpha steroid reductase 2 deficiency; familial incomplete male pseudohermaphroditism type 2; familial incomplete male pseudohermaphroditism, type 2; male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency; male pseudohermaphroditism due to 5-alpha-reductase deficiency; ppsh; ppsh - pseudovaginal perineoscrotal hypospadias; pseudovaginal perineoscrotal hypospadias; steroid 5-alpha-reductase 2 deficiency; steroid 5-alpha-reductase deficiency","Name":"3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"},{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"}],"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":"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":"Childhood","Provided_By__c":"ORPHA:753"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:753"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:753"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:753"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005680","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98699","Source__c":"C0268297; MONDO:0009923","Xref__c":"C98699"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535830","Source__c":"MONDO:0009923","Xref__c":"C535830"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268297","Source__c":"C0268297","Xref__c":"C0268297"},{"URL__c":"https://www.omim.org/entry/264600","Source__c":"C0268297; MONDO:0009923; ORPHA:753","Xref__c":"OMIM:264600"},{"URL__c":"https://www.orpha.net/en/disease/detail/753","Source__c":"C0268297; MONDO:0009923; ORPHA:753","Xref__c":"ORPHA:753"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75667","Source__c":"C0268297","Xref__c":"MEDGEN:75667"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57514000","Source__c":"MONDO:0009923","Xref__c":"57514000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009923","Source__c":"GARD:0005680","Xref__c":"MONDO:0009923"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=738771004","Source__c":"C0268297","Xref__c":"738771004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SRD5A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/srd5a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypospadias with location of the urethral meatus in the perineal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000051","HPO_Name__c":"Perineal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Apparently small scrotum for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000046","HPO_Synonym__c":"Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum","HPO_Name__c":"Small scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","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"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia in an individual with XY genetic sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000033","HPO_Synonym__c":"Ambiguous genitalia in males","HPO_Name__c":"Ambiguous genitalia, male","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency"," 46,xy dsd due to 5-alpha-reductase 2 deficiency"," 5 alpha steroid reductase 2 deficiency"," familial incomplete male pseudohermaphroditism type 2"," familial incomplete male pseudohermaphroditism, type 2"," male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency"," male pseudohermaphroditism due to 5-alpha-reductase deficiency"," ppsh"," ppsh - pseudovaginal perineoscrotal hypospadias"," pseudovaginal perineoscrotal hypospadias"," steroid 5-alpha-reductase 2 deficiency"," steroid 5-alpha-reductase deficiency"]}