aromatase deficiency
Findings
No curated finding names aromatase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aromatase deficiency 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.
Definition from the Mondo Disease Ontology (MONDO:0013301), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Ambiguous genitalia, femaleHPOHP:0000061
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- Very frequent (80% to 99% of cases)
- Enlarged polycystic ovariesHPOHP:0008675
- Very frequent (80% to 99% of cases)
Show the remaining 14
- HyperlipidemiaHPOHP:0003077
- Very frequent (80% to 99% of cases)
- Male infertilityHPOHP:0003251
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP19A1HGNC:2594
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: aromatase deficiency
- Also called
- congenital estrogen deficiencycongenital oestrogen deficiency