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Aromatase deficiency

Known as: PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY 
National Institutes of Health

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6 relations

Broader (5)

46, XX Disorders of Sex DevelopmentAromataseGynecomastiaInborn Errors of Metabolism
AROMATASE EXCESS SYNDROME

Papers overview

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2019
2019
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen… 
2010
2010
Tall stature without growth hormone: four male patients with aromatase deficiency.
CONTEXT From preliminary observations, GH-IGF-I seems to be compromised in men with aromatase deficiency. The GH deficiency (GHD… 
2007
2007
The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues
Objective   The previously described c655G>A mutation of the human cytochrome P450 aromatase gene (P450aro, CYP19) results in… 
2006
2006
Oestrogen modulation of the effect of 8-OH-DPAT on prepulse inhibition: effects of aromatase deficiency and castration in mice
ObjectiveThe aim of this study was to investigate the interaction of sex steroid hormones, particularly oestrogen, in the… 
Review
2004
Review
2004
The Japanese quail: a model for studying reproductive aging of hypothalamic systems
2003
2003
RETRACTED: Neurological effects of aromatase deficiency in the mouse
2003
2003
Index of Signs and Symptoms
Abdominal pain 106 Acanthosis nigricans 32, 98, 100 Acne 11, 32, 53 Adipomastia 21 Adrenal hyperandrogenism, primary functional… 
Review
2002
Review
2002
Elucidation of estrogen receptor function in bone with the use of mouse models
Highly Cited
1997
Highly Cited
1997
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…
We report on a female who is compound heterozygote for two new point mutations in the CYP19 gene. The allele inherited from her… 
Highly Cited
1994
Highly Cited
1994
Neuronal aromatase expression in preoptic, strial, and amygdaloid regions during late prenatal and early postnatal development in the rat
Brain aromatase has been considered to be an important clue in elucidating the actions of androgen on brain sexual… 
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