Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
MONDO:0013400A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
Also known as: XY sex reversal-adrenal failure, XY sex reversal-adrenal failure syndrome, adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete, adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, cholesterol side-chain cleavage deficiency, p450scc deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome
8 clinical trials for this condition and its sub-types, 1 tagged with Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 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
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New imaging tracer could shed light on adrenal cholesterol
Knowledge-focused Recruiting nowThis study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …
Early phase 1 • Sponsor: Benjamin Viglianti • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC