Aromatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY
Congenital estrogen deficiency
Number of Symptoms 16
OrphanetNr: 91
OMIM Id: 613546
ICD-10: E25.8
UMLs: C0878680
MeSH: C537436
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 13 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XX disorder of sex development induced by fetoplacental androgens excess
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
Non-acquired premature ovarian failure
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Rare disorder related with pregnancy, childbirth and puerperium
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0010458) Female pseudohermaphroditism Very frequent [Orphanet] 17 / 7739
2
(HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
3
(HPO:0000138) Ovarian cyst 25 / 7739
4
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
5
(HPO:0000786) Primary amenorrhea 61 / 7739
6
(HPO:0000789) Infertility Occasional [Orphanet] 74 / 7739
7
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
8
(HPO:0002750) Delayed skeletal maturation 250 / 7739
9
(HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
10
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
11
(HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
12
(HPO:0001399) Hepatic failure Occasional [Orphanet] 80 / 7739
13
(HPO:0003782) Eunuchoid habitus Very frequent [Orphanet] 8 / 7739
14
(HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
15
(HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and ...
Clinical Description OMIM Mango et al. (1978) reported the case of a primigravida who showed low urinary estrogen excretion and demonstrated lack of placental aromatase activity by in vitro assays. The first report of well-substantiated placental aromatase deficiency appears to be ...
Molecular genetics OMIM Ito et al. (1993) described compound heterozygosity for 2 mutations in the CYP19A1 gene (107910.0001-107910.0002) in a case of aromatase deficiency suspected on the basis of clinical and biochemical evidence. The patient was an 18-year-old 46,XX female with ...