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ORPHA:91Disease
Also called Congenital estrogen deficiency
What it is
A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
20- Ambiguous genitalia, female
- Bone pain
- Cryptorchidism
- Delayed epiphyseal ossification
- Delayed skeletal maturation
- Enlarged polycystic ovaries
- Eunuchoid habitus
- Female infertility
- Female pseudohermaphroditism
- Genu valgum
- Growth delay
- Hypergonadotropic hypogonadism
- Hyperlipidemia
- Male infertility
- Maternal virilization in pregnancy
- Obesity
- Osteopenia
- Osteoporosis
- Primary amenorrhea
- Tall stature
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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