{"@context":{"skos":"http://www.w3.org/2004/02/skos/core#","dc":"http://purl.org/dc/terms/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","xsd":"http://www.w3.org/2001/XMLSchema#"},"@id":"https://homosaurus.org/v4/homoit0002848","dc:identifier":"homoit0002848","skos:prefLabel":[{"@language":"en","@value":"Isolated 17,20-lyase deficiency"},{"@language":"es","@value":"Deficiencia aislada de 17,20-liasa"},{"@language":"nl","@value":"Geïsoleerde 17,20-lyasedeficiëntie"}],"skos:altLabel":{"@language":"en","@value":"ILD"},"rdfs:comment":[{"@language":"en","@value":"People with isolated 17,20-lyase deficiency (ILD) have one of several specific variations in their genes that cause their bodies to make lower-than-typical amounts of testosterone. They may be born with genitals that do not appear quite like a typical penis, and their testes may be descended or undescended. In adolescence, they may not experience all of the changes related to a typical testosterone puberty because their variation impacts their hormone production."},{"@language":"es","@value":"Las personas con deficiencia aislada de 17,20-liasa tienen una de las diversas variaciones específicas en sus genes que hacen que sus cuerpos produzcan cantidades de testosterona inferiores a las típicas. Pueden nacer con genitales que no se parecen a un pene típico y sus testículos pueden ser descendidos o no descendidos. En la adolescencia, es posible que no experimenten todos los cambios relacionados con una pubertad típica de testosterona porque su variación afecta a su producción hormonal."},{"@language":"nl","@value":"Personen met geïsoleerde 17,20-lyasedeficiëntie (ILD) hebben één van de vele specifieke variaties in hun genen die ervoor zorgen dat hun lichaam lagere hoeveelheden testosteron aanmaakt dan normaal. Ze kunnen geboren worden met geslachtsdelen die niet helemaal op een typische penis lijken, en hun testikels kunnen ingedaald of niet-ingedaald zijn. In de adolescentie ervaren ze mogelijk niet alle veranderingen die verband houden met een typische testosteron-puberteit, omdat hun variatie hun hormoonproductie beïnvloedt."}],"skos:broader":[{"@id":"https://homosaurus.org/v4/homoit0000669","skos:prefLabel":{"@language":"en","@value":"Intersex variations"}}],"skos:hasTopConcept":{"@id":"https://homosaurus.org/v4/homoit0001269"},"dc:issued":{"@type":"xsd:date","@value":"2023-06-28"},"dc:modified":{"@type":"xsd:date","@value":"2025-02-23"},"@type":"skos:Concept","skos:inScheme":{"@id":"https://homosaurus.org/v3"},"skos:changeNote":"Version 5.0.3","skos:narrower":[],"skos:related":[],"dc:replaces":[],"dc:isReplacedBy":[]}