KEGG   DISEASE: Aromatase deficiencyHelp
Entry
H02020                      Disease                                

Name
Aromatase deficiency
Description
Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency, disorders of sex development and progressive virilization at puberty develop in females. In the males, prepubertal development is normal. Delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis develop in both genders.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Gonadal diseases
   H02020  Aromatase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Certain disorders of puberty
    5A9Y  Other disorders of puberty
     H02020  Aromatase deficiency
BRITE hierarchy
Pathway
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
Gene
CYP19A1 [HSA:1588] [KO:K07434]
Other DBs
ICD-11: 5A9Y
ICD-10: E25.8
MeSH: C537436
OMIM: 613546
Reference
  Authors
Baykan EK, Erdogan M, Ozen S, Darcan S, Saygili LF
  Title
Aromatase deficiency, a rare syndrome: case report.
  Journal
J Clin Res Pediatr Endocrinol 5:129-32 (2013)
DOI:10.4274/Jcrpe.970
Reference
PMID:8265607
  Authors
Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER
  Title
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
  Journal
Proc Natl Acad Sci U S A 90:11673-7 (1993)
DOI:10.1073/pnas.90.24.11673
Reference
PMID:9177373
  Authors
Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H
  Title
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
  Journal
J Clin Endocrinol Metab 82:1739-45 (1997)
DOI:10.1210/jcem.82.6.3994
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