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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Age matters: study hopes to boost fertility in klinefelter syndrome
Disease control CompletedThis study looked at 141 men with Klinefelter syndrome (47,XXY) to see if younger men (ages 15–22) have a better chance of finding sperm through testicular biopsy compared to older men (ages 23–55). Participants provided two semen samples, and if no sperm were found, they underwe…
Sponsor: Hospices Civils de Lyon • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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Penile fillers tested in 20 men for size boost
Symptom relief CompletedThis completed study tested hyaluronic acid fillers injected into the penis to increase width and girth in 20 healthy men aged 21 to 65. The main goal was to see if size increased after one year using 3D imaging. The treatment is a temporary cosmetic procedure, not a cure for any…
Sponsor: Shafer Clinic Fifth Avenue • Aim: Symptom relief
Last updated Aug 20, 2026 00:00 UTC
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Ear pellets may ease breast pain after C-Section
Symptom relief CompletedThis study tested whether ear acupressure (small pellets on specific ear points) plus basic breast care can reduce pain and blocked milk ducts in women after cesarean delivery. 72 new mothers with blocked ducts received either real ear acupressure or a sham version for 3 days, al…
Sponsor: University of Medicine and Pharmacy at Ho Chi Minh City • Aim: Symptom relief
Last updated Jun 28, 2026 00:00 UTC
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Which breast reduction surgery works best for men? new study reveals answers
Symptom relief CompletedThis study compared two surgical techniques for treating gynecomastia (enlarged male breasts) in 64 men with mild to moderate severity. Participants were randomly assigned to receive either periareolar excision or pull-through surgery, and their satisfaction with chest appearance…
Sponsor: Kafrelsheikh University • Aim: Symptom relief
Last updated Jun 27, 2026 11:03 UTC
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Would families trade daily growth hormone shots for weekly ones?
Knowledge-focused CompletedChildren with growth hormone deficiency often need daily injections, which can be hard to keep up with. Researchers in Belgium and Luxembourg are asking families in the BELGROW registry to fill out a questionnaire about whether they would consider switching to long-acting growth …
Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain • Aim: Knowledge-focused
Last updated Sep 21, 2026 15:00 UTC
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Can brain tests unlock the social struggles of turner syndrome?
Knowledge-focused CompletedThis study investigates why some girls with Turner syndrome find it hard to make friends, read emotions, and control their feelings. Researchers will compare 35 girls with Turner syndrome to 35 girls with isolated growth hormone deficiency, all aged 7 to 16. Through puzzles, memo…
Sponsor: University Hospital, Angers • Aim: Knowledge-focused
Last updated Aug 20, 2026 00:00 UTC
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Scientists dig into the mysteries of x and y chromosomes
Knowledge-focused CompletedThis study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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Hidden danger: low blood sugar in kids with adrenal gland disorder
Knowledge-focused CompletedThis study looked at how often children with a rare adrenal gland problem (congenital adrenal insufficiency) experience dangerously low blood sugar. Even with standard treatment, these children may have low blood sugar without obvious symptoms. Researchers monitored 9 children ag…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC