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Start free with EleplanMüllerian aplasia and hyperandrogenism
ORPHA:247768Malformation syndrome
Also called Müllerian duct failure and hyperandrogenism · WNT4 deficiency
What it is
A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
10Sometimes5–29%
11- Abnormality of the ovary
- Brachydactyly
- Cleft palate
- Cubitus valgus
- Protruding ear
- Renal agenesis
- Shield chest
- Short neck
and 3 more in this range
These 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.
Gene
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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