46,XX disorder of sex development-anorectal anomalies syndrome
MONDO:001757346,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
Also known as: female pseudohermaphroditism-anorectal anomalies syndrome
4 clinical trials for this condition and its sub-types.
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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…
Phase: NA • 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