Placental aromatase deficiency

MedGen UID:: 743308
•Concept ID:: C1960540
•: Disease or Syndrome

Synonym:	Placental Aromatase Deficiency
SNOMED CT:	Placental aromatase deficiency (425708006)

Definition

An autosomal recessive condition that results in aromatase deficiency in the placenta, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPlacental aromatase deficiency

Clinical finding
- Finding by Cause
  - Complication
    - Pregnancy Complication
      - Disorder of placenta
        Placental Non-Neoplastic Disorder
        Placental aromatase deficiency

Recent clinical studies

Etiology

Altered umbilical sex steroids in preterm infants born small for gestational age.

Allvin K, Ankarberg-Lindgren C, Niklasson A, Jacobsson B, Dahlgren J
J Matern Fetal Neonatal Med 2020 Dec;33(24):4164-4170. Epub 2019 Apr 18 doi: 10.1080/14767058.2019.1598362. PMID: 30895831

Abnormal steroidogenesis and aromatase activity in preeclampsia.

Berkane N, Liere P, Lefevre G, Alfaidy N, Nahed RA, Vincent J, Oudinet JP, Pianos A, Cambourg A, Rozenberg P, Galichon P, Rousseau A, Simon T, Schumacher M, Chabbert-Buffet N, Hertig A
Placenta 2018 Sep;69:40-49. Epub 2018 Jul 7 doi: 10.1016/j.placenta.2018.07.004. PMID: 30213483

See all (2)

Diagnosis

Abnormal steroidogenesis and aromatase activity in preeclampsia.

Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor.

MacGillivray MH, Morishima A, Conte F, Grumbach M, Smith EP
Horm Res 1998;49 Suppl 1:2-8. doi: 10.1159/000053061. PMID: 9554463

Genetic studies to characterize the origin of the mutation in placental aromatase deficiency.

Harada N, Ogawa H, Shozu M, Yamada K
Am J Hum Genet 1992 Sep;51(3):666-72. PMID: 1496995 Free PMC Article

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Therapy

Virilization of a 46,XX Fetus Following Aromatase Inhibitor Treatment of Breast Cancer.

Moran GW, Steinman JB, Tillotson CV, Carpenter CP, Hays T, Ham JN, Li B
Pediatrics 2023 Jun 1;151(6) doi: 10.1542/peds.2022-060568. PMID: 37128841

See all (1)

Clinical prediction guides

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene.

Özen S, Atik T, Korkmaz Ö, Onay H, Gökşen D, Özkınay F, Çoğulu Ö, Darcan Ş
J Clin Res Pediatr Endocrinol 2020 Mar 19;12(1):109-112. Epub 2019 Apr 10 doi: 10.4274/jcrpe.galenos.2019.2018.0198. PMID: 30968679 Free PMC Article

Altered umbilical sex steroids in preterm infants born small for gestational age.

Allvin K, Ankarberg-Lindgren C, Niklasson A, Jacobsson B, Dahlgren J
J Matern Fetal Neonatal Med 2020 Dec;33(24):4164-4170. Epub 2019 Apr 18 doi: 10.1080/14767058.2019.1598362. PMID: 30895831

Abnormal steroidogenesis and aromatase activity in preeclampsia.

Genetic analysis of human placental aromatase deficiency.

Harada N
J Steroid Biochem Mol Biol 1993 Mar;44(4-6):331-40. doi: 10.1016/0960-0760(93)90236-p. PMID: 7682836

A new cause of female pseudohermaphroditism: placental aromatase deficiency.

Shozu M, Akasofu K, Harada T, Kubota Y
J Clin Endocrinol Metab 1991 Mar;72(3):560-6. doi: 10.1210/jcem-72-3-560. PMID: 1825497

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