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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Weekly shot may help short kids grow – new study underway
Disease control OngoingThis study tests a new growth hormone medicine called somapacitan, given once a week, in 47 children who are very short due to being born small for gestational age, or having Turner syndrome, Noonan syndrome, or idiopathic short stature. The main goal is to see if it is safe and …
Phase 3 • Sponsor: Novo Nordisk A/S • Aim: Disease control
Last updated Aug 15, 2026 00:00 UTC
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Can early parent coaching help infants with rare genetic disorders thrive?
Disease control By invitation onlyThis study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…
Sponsor: RTI International • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Weekly shot could replace daily needles for kids with growth disorders
Disease control OngoingThis study tests if a new growth hormone medicine (somapacitan) given once a week works as well as the standard daily growth hormone (Norditropin) for children who are very short due to being born small, or having Turner syndrome, Noonan syndrome, or unknown causes. About 412 chi…
Phase 3 • Sponsor: Novo Nordisk A/S • Aim: Disease control
Last updated Jun 27, 2026 13:08 UTC
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Weekly shot may replace daily growth hormone for turner syndrome kids
Disease control OngoingThis study tests a new long-acting growth hormone (lonapegsomatropin) given once a week, compared to the standard daily growth hormone shot, in 48 prepubertal children with Turner syndrome who have not had growth hormone before. The goal is to see if the weekly shot is safe and h…
Phase 2 • Sponsor: Ascendis Pharma Endocrinology Division A/S • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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Can freezing ovarian tissue help girls have babies later?
Disease control OngoingThis study offers girls from birth to age 17 the chance to freeze their ovarian tissue before medical treatments that could harm their fertility, such as chemotherapy or radiation. The tissue is removed surgically and stored. Later, if they want to have children, the tissue can b…
Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 12:10 UTC
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New surgery combo may improve results for men with enlarged breasts
Symptom relief OngoingThis study looks at two surgical treatments for moderate to severe gynecomastia (enlarged male breasts). One group gets standard laparoscopic surgery to remove breast tissue, while the other gets that plus a lift of the nipple-areola complex. Researchers will compare recovery, br…
Sponsor: First Affiliated Hospital of Harbin Medical University • Aim: Symptom relief
Last updated Jun 27, 2026 08:08 UTC
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Reading the genetic code to understand differences in sex development
Knowledge-focused By invitation onlyThis study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jul 24, 2026 00:00 UTC
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Can ovarian freezing help girls with turner syndrome have children later?
Knowledge-focused OngoingThis study looks at freezing ovarian tissue in girls with Turner syndrome, a condition that often causes early ovary failure and infertility. Researchers want to find out which patients are most likely to have healthy eggs in their tissue by checking their genes, hormones, and me…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Scientists hunt for hidden genes behind aortic aneurysms
Knowledge-focused OngoingThis study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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New study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused By invitation onlyThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused By invitation onlyThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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300 men with klinefelter syndrome to be tracked for decades in landmark study
Knowledge-focused By invitation onlyThis study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…
Sponsor: Rigshospitalet, Denmark • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:49 UTC