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
55 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 · 34 incl. sub-types
7 sub-types
- Turner syndrome 29 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 · 10 incl. sub-types
24 sub-types
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
- Androgen insensitivity syndrome 1 trial · 2 incl. sub-types Sub-types →
- 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 →
- 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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Stem cells through the nose: a shot at stopping cerebral palsy
Cure Not yet recruitingNewborns who suffer a stroke or oxygen loss around birth can develop cerebral palsy and other lifelong disabilities, and no treatment can repair the damage. Researchers at UMC Utrecht are testing whether a single dose of bone marrow-derived mesenchymal stromal cells, sprayed into…
Phase 2/3 • Sponsor: UMC Utrecht • Aim: Cure
Last updated Sep 21, 2026 17:00 UTC
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Can a tiny estradiol patch boost brain speed in turner syndrome?
Disease control Not yet recruitingThis study tests whether ultra-low dose estradiol patches, started between ages 8 and 11.5, are safe and may improve thinking speed and short-term memory in girls with Turner syndrome who have ovarian failure. Participants wear a small fraction of a standard patch, changed weekly…
Phase 2 • Sponsor: Children's National Research Institute • Aim: Disease control
Last updated Aug 27, 2026 00:00 UTC
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Estrogen showdown: gel or pill for turner syndrome puberty?
Disease control Not yet recruitingThis trial tests two ways of giving estrogen to girls and young women with Turner syndrome to help them start puberty. Participants will be randomly assigned to use either an estrogen gel applied to the skin or an estrogen tablet taken by mouth for 19 months. The study will compa…
Phase 2 • Sponsor: Universiti Kebangsaan Malaysia Medical Centre • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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Hands-On breastfeeding class before delivery may stop painful nipples
Prevention Not yet recruitingThis study tests whether a 40-minute hands-on breastfeeding class during the third trimester can prevent sore nipples and breast engorgement in first-time mothers. 100 pregnant women will be split into two groups: one gets the class plus an e-booklet, the other gets only the e-bo…
Sponsor: Gadjah Mada University • Aim: Prevention
Last updated Jun 27, 2026 08:05 UTC
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Robot scalpel takes on man boobs: new study tests precision surgery
Symptom relief Not yet recruitingThis study tests a new robotic surgery to remove excess breast gland tissue in men with gynecomastia (enlarged breasts). Twenty men aged 18-75 who have had breast enlargement for over a year and haven't responded to medication will undergo single-port robotic-assisted surgery. Th…
Sponsor: The First Affiliated Hospital with Nanjing Medical University • Aim: Symptom relief
Last updated Jun 27, 2026 08:12 UTC
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New study aims to find best surgery for men with severe breast enlargement
Symptom relief Not yet recruitingThis study will compare different surgical techniques for treating severe gynecomastia (enlarged male breasts) in 45 men aged 18-60. The goal is to see which method gives the best cosmetic results and highest patient satisfaction. Participants will be randomly assigned to one of …
Sponsor: Assiut University • Aim: Symptom relief
Last updated Jun 27, 2026 08:01 UTC
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Could hidden blood problems be common in children with certain genetic syndromes?
Knowledge-focused Not yet recruitingThis study looks at blood health in children with numerical chromosomal disorders, such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome. Researchers will measure blood counts and check for issues like anemia, low platelets, or abnorma…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Do rare conditions affect sexual Well-Being? a study investigates
Knowledge-focused Not yet recruitingThis study asks whether women with lipodystrophy syndromes or Turner syndrome experience lower sexual quality of life than women in the general population. Researchers will compare survey responses from affected women with those from a large French cohort. The goal is to understa…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Sep 04, 2026 00:00 UTC
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Rare syndrome linked to higher post-transplant cancer risk – study aims to find out why
Knowledge-focused Not yet recruitingDenys-Drash syndrome is a rare genetic condition that causes kidney failure in early childhood, often requiring a transplant. Past research suggests these children have a much higher chance of developing a type of lymphoma after transplant compared to other kids. This study will …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC