{"Name":"Testosterone 17-beta-dehydrogenase deficiency","DiseaseID__c":"GARD:0005659","id":5659,"encodedName":"testosterone-17-beta-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Testosterone 17-beta-dehydrogenase deficiency","Xref_IDs__c":"50658006; C0268296; C120203; C537805; C564868; DOID:0112248; MEDGEN:120626; MONDO:0009916; OMIM:264300; ORPHA:752","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009916","Disease_Description__c":"Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.","GARD_Name__c":"Testosterone 17-beta-dehydrogenase deficiency","GARD_Synonym__c":"17 alpha ketosteroid reductase deficiency of testis; 17 alpha ksr deficiency; 17 beta hsd3 deficiency; 17-beta hydroxysteroid dehydrogenase 3 deficiency; 17-beta hydroxysteroid dehydrogenase iii deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroid reductase deficiency; 17-ketosteroidreductase deficiency; 17-ksr deficiency; 17b-hsd deficiency; 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; male pseudoherma-phroditism with gynecomastia; male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; neutral 17 beta hydroxysteroid oxidoreductase deficiency; neutral 17-beta-hydroxysteroid oxidoreductase deficiency; pseudohermaphroditism male with gynecomastia","Curated_Disease_Description_Source__c":"GARD:0005659","Curated_Disease_Description__c":"17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. 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 male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female. Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias). During puberty, people with this condition develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair. In addition to these changes typical of adolescent boys, some affected individuals may also experience breast enlargement (gynecomastia). Despite having testes, people with this disorder are generally unable to father children (infertile).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Teenager","SourceID__c":"ORPHA:752","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009916","ORPHANET_ID__c":"ORPHA:752","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente 46,xy por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"desarrollo sexual diferente 46,xy por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa","Spanish_GARD_Synonym__c":"dsd 46,xy por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa; trastorno del desarrollo sexual 46,xy por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa","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":"17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. 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 male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female. Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias). During puberty, people with this condition develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair. In addition to these changes typical of adolescent boys, some affected individuals may also experience breast enlargement (gynecomastia). Despite having testes, people with this disorder are generally unable to father children (infertile).","Curated_Disease_Description_Source__c":"GARD:0005659","GARD_Synonym__c":"17 alpha ketosteroid reductase deficiency of testis; 17 alpha ksr deficiency; 17 beta hsd3 deficiency; 17-beta hydroxysteroid dehydrogenase 3 deficiency; 17-beta hydroxysteroid dehydrogenase iii deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroid reductase deficiency; 17-ketosteroidreductase deficiency; 17-ksr deficiency; 17b-hsd deficiency; 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; male pseudoherma-phroditism with gynecomastia; male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; neutral 17 beta hydroxysteroid oxidoreductase deficiency; neutral 17-beta-hydroxysteroid oxidoreductase deficiency; pseudohermaphroditism male with gynecomastia","Name":"Testosterone 17-beta-dehydrogenase deficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"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":"Adolescent","Provided_By__c":"ORPHA:752"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:752"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268296"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005659","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/264300","Source__c":"C0268296; MONDO:0009916; ORPHA:752","Xref__c":"OMIM:264300"},{"URL__c":"https://www.orpha.net/en/disease/detail/752","Source__c":"C0268296; MONDO:0009916; ORPHA:752","Xref__c":"ORPHA:752"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112248","Source__c":"MONDO:0009916","Xref__c":"DOID:0112248"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564868","Source__c":"MONDO:0009916","Xref__c":"C564868"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268296","Source__c":"C0268296","Xref__c":"C0268296"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120203","Source__c":"C0268296; MONDO:0009916","Xref__c":"C120203"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120626","Source__c":"C0268296","Xref__c":"MEDGEN:120626"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50658006","Source__c":"C0268296; MONDO:0009916","Xref__c":"50658006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537805","Source__c":"MONDO:0009916","Xref__c":"C537805"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009916","Source__c":"GARD:0005659","Xref__c":"MONDO:0009916"},{"URL__c":"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency","Source__c":"GARD:0005659","Xref__c":"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSD17B3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hsd17b3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","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:752","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"}},{"Provided_By__c":"ORPHA:752","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:752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of androstenedione in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025380","HPO_Synonym__c":"Increased serum androstenedione","HPO_Name__c":"Increased circulating androstenedione concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Occasional (5-29%)","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:752","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Occasional (5-29%)","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:752","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:752","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["17 alpha ketosteroid reductase deficiency of testis"," 17 alpha ksr deficiency"," 17 beta hsd3 deficiency"," 17-beta hydroxysteroid dehydrogenase 3 deficiency"," 17-beta hydroxysteroid dehydrogenase iii deficiency"," 17-beta-hydroxysteroid dehydrogenase 3 deficiency"," 17-ketoreductase deficiency"," 17-ketosteroid reductase deficiency"," 17-ketosteroidreductase deficiency"," 17-ksr deficiency"," 17b-hsd deficiency"," 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"," male pseudoherma-phroditism with gynecomastia"," male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"," neutral 17 beta hydroxysteroid oxidoreductase deficiency"," neutral 17-beta-hydroxysteroid oxidoreductase deficiency"," pseudohermaphroditism male with gynecomastia"]}