Sex chromosome disorder of sex development

MONDO:0017975

Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.

Also known as: Sex chromosome DSD

37 clinical trials for this condition and its sub-types, 2 tagged with Sex chromosome disorder of sex development itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of sexual differentiation (55)

Sub-types of Sex chromosome disorder of sex development

Turner syndrome 29 trials
3 sub-types
- Turner syndrome due to structural X chromosome anomalies 0 trials
- Mixed gonadal dysgenesis 0 trials
- Monosomy X 0 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

Most studied deeper sub-types

Mosaic monosomy X (0)

Including sub-types (37) Tagged with Sex chromosome disorder of sex development (2)

Trials to join now! 17 Not yet recruiting 4 Not yet finished but already full! 11 Completed 4 Terminated 1

Ultrasound could uncover hidden vascular risks in turner syndrome

Knowledge-focused Stopped early

This study is looking at whether yearly ultrasound scans can detect blood vessel abnormalities throughout the body in women with Turner syndrome, not just in the heart area. Turner syndrome is a genetic condition that increases the risk of serious vascular problems, which can sho…

Sponsor: University Hospital, Strasbourg, France • Aim: Knowledge-focused

Last updated Aug 23, 2026 00:00 UTC

Sex chromosome disorder of sex development

Where it sits in the disease tree

Most studied deeper sub-types

Ultrasound could uncover hidden vascular risks in turner syndrome