46,XY partial gonadal dysgenesis

MONDO:0016674

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Also known as: 46,XY PGD, 46,XY partial testicular dysgenesis

5 clinical trials for this condition and its sub-types, 0 tagged with 46,XY partial gonadal dysgenesis itself.

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↑ 46,XY disorder of sex development (10)

Sub-types of 46,XY partial gonadal dysgenesis

46,XY sex reversal 10 0 trials
46,XY sex reversal 2 0 trials
46,XY sex reversal 3 0 trials
46,XY sex reversal 4 0 trials
46,XY sex reversal 6 0 trials
46,XY sex reversal 9 0 trials
Testicular anomalies with or without congenital heart disease 0 trials

Including sub-types (5) Tagged with 46,XY partial gonadal dysgenesis (0)

Trials to join now! 4 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused By invitation only

This 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

46,XY partial gonadal dysgenesis

Where it sits in the disease tree

Reading the genetic code to understand differences in sex development