46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0009916Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
Also known as: 17 Beta HSD3 deficiency, 17 beta HSD3 deficiency, 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17 alpha KSR deficiency
5 clinical trials for this condition and its sub-types, 0 tagged with 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency itself.
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Can frozen tissue preserve fertility for children with DSD?
Disease control Recruiting nowThis study tests whether gonadal tissue removed from children with disorders of sex development (DSD) can be frozen and stored to preserve fertility. The tissue is already being removed for medical reasons, such as preventing cancer. Researchers will check the tissue for viable g…
Sponsor: Erin Rowell • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New DNA scan may unlock mysteries of sex development disorders
Diagnosis Recruiting nowThis study aims to find hidden genetic changes in people with disorders of sex development (DSD) whose standard genetic tests came back normal. Researchers will use a new technique called Optical Genome Mapping on a blood sample from 20 participants. The goal is to see if this me…
Sponsor: University Hospital, Montpellier • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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Can freezing ovarian tissue help people with turner syndrome or early menopause have kids?
Knowledge-focused Recruiting nowThis study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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Massive study aims to unlock mysteries of teen gynecologic disorders
Knowledge-focused Recruiting nowThis study is collecting medical data, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. The goal is to create a large database to better understand these conditions, including disorders of sex developm…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC