Androgen insensitivity syndrome
MONDO:0019154Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
Also known as: AIS, Goldberg-Maxwell syndrome, Morris syndrome, androgen insensitivity syndrome, androgen insensitivity, X-linked recessive, androgen resistance syndrome, testicular feminization syndrome, AR deficiency
5 clinical trials for this condition and its sub-types.
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Broader categories
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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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Major study launches to uncover hidden health risks in androgen insensitivity
Knowledge-focused Recruiting nowThis study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 15, 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