Disorder of sexual differentiation
MONDO:0002145A congenital disorder characterized by abnormalities in the development of the sexual characteristics.
Also known as: CARD, DSD, conditions affecting reproductive development, differences of sex development, disorder of sex development, disorder of sex differentiation, disorder of sexual differentiation, disorders of sex development
53 clinical trials for this condition and its sub-types, 9 tagged with Disorder of sexual differentiation itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Disorder of sexual differentiation
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Sex chromosome disorder of sex development 2 trials · 33 incl. sub-types
7 sub-types
- Turner syndrome 28 trials Sub-types →
- Klinefelter syndrome 9 trials
- 45,X/46,XY mixed gonadal dysgenesis 0 trials
- 48,XXXY syndrome 0 trials
- 48,XXYY syndrome 0 trials
- 49,XXXXY syndrome 0 trials
- Tetragametic chimerism 0 trials
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46,XY disorder of sex development 3 trials · 9 incl. sub-types
24 sub-types
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
- Penile agenesis 2 trials
- Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 trial
- Denys-Drash syndrome 1 trial
- WAGR syndrome 1 trial Sub-types →
- Androgen insensitivity syndrome 1 trial Sub-types →
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 0 trials
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 0 trials
- 46,XY ovotesticular disorder of sex development 0 trials
- 46,XY partial gonadal dysgenesis 0 trials Sub-types →
- Frasier syndrome 0 trials
- Meacham syndrome 0 trials
- PAGOD syndrome 0 trials
- X-linked myotubular myopathy-abnormal genitalia syndrome 0 trials
- XY type gonadal dysgenesis-associated anomalies syndrome 0 trials
- Alpha thalassemia-X-linked intellectual disability syndrome 0 trials
- Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
- Disorder of sex development-intellectual disability syndrome 0 trials
- Distal monosomy 9p 0 trials
- Dysmorphism-short stature-deafness-disorder of sex development syndrome 0 trials
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 0 trials
- Male pseudohermaphroditism due to defective lh molecule 0 trials
- Sudden infant death-dysgenesis of the testes syndrome 0 trials
- Testicular agenesis 0 trials
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Gynecomastia disorder 6 trials · 8 incl. sub-types
1 sub-type
- Infant gynecomastia 2 trials
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1 sub-type
- Pseudohermaphroditism 0 trials Sub-types →
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46,XX disorder of sex development 0 trials
6 sub-types
- 46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
- 46,XX disorder of sex development-skeletal anomalies syndrome 0 trials
- 46,XX testicular disorder of sex development 0 trials Sub-types →
- 46,XX true hermaphroditism, SRY-positive 0 trials
- Michels Caskey syndrome 0 trials
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 0 trials
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True hermaphroditism 0 trials
Most studied deeper sub-types
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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 hope for rare childhood cancer: drug cocktail aims to shrink tumors and prevent return
Disease control Recruiting nowThis study is for children and young adults (up to age 30) with a rare type of soft tissue cancer called non-rhabdomyosarcoma. It tests whether adding the drugs pazopanib and selinexor to standard chemotherapy can improve outcomes. Participants receive treatment tailored to their…
Phase 1/2 • Sponsor: St. Jude Children's Research Hospital • Aim: Disease control
Last updated Aug 05, 2026 00:00 UTC
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Penis transplants could restore form and function for wounded warriors
Disease control Recruiting nowThis study investigates penile transplantation as a way to replace a severely damaged or missing penis with a donor organ, aiming to restore appearance, sensation, and sexual function. It includes men aged 18-69 who have lost their penis due to trauma, surgery, or birth defects. …
Phase 2/3 • Sponsor: Johns Hopkins University • Aim: Disease control
Last updated Jul 16, 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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Writing away worry: study tests journaling for parents of kids with DSD
Symptom relief Recruiting nowThis study tests whether a guided journaling program can reduce anxiety in parents of children with urogenital conditions like differences of sex development (DSD) or hypospadias. Twenty parents will complete five writing prompts over several weeks and then share their experience…
Sponsor: Sarah Schlegel • Aim: Symptom relief
Last updated Jun 27, 2026 12:34 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