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Start free with Eleplan46,XY partial gonadal dysgenesis
ORPHA:251510Malformation syndrome
Also called 46,XY PGD · 46,XY partial testicular dysgenesis
What it is
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
31- Abnormal internal genitalia
- Abnormality of the labia
- Abnormality of the scrotum
- Abnormality of the vagina
- Abnormal sex determination
- Ambiguous genitalia
- Azoospermia
- Clitoral hypertrophy
- Decreased fertility in females
- Decreased serum estradiol
- Decreased serum testosterone concentration
- Decreased testicular size
- Elevated circulating follicle stimulating hormone level
- Elevated circulating luteinizing hormone level
- Female external genitalia in individual with 46,XY karyotype
- Gonadal dysgenesis
- Gynecomastia
- Hypergonadotropic hypogonadism
- Hypoplasia of penis
- Hypoplasia of the vagina
- Hypospadias
- Increased circulating gonadotropin level
- Male infertility
- Micropenis
- Osteoporosis
- Primary amenorrhea
- Sparse axillary hair
- Sparse pubic hair
- Streak ovary
- Urogenital sinus anomaly
- Vanishing testis
Sometimes5–29%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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