Aromatase Deficiency

Common Name(s)

Aromatase Deficiency, Familial gynecomastia, due to increased aromatase activity

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 is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by {9:Jones et al., 2007}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aromatase Deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aromatase Deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

Aromatase deficiency, a rare syndrome: case report.
 

Author(s): Emine Kartal Baykan, Mehmet Erdoğan, Samim Özen, Şükran Darcan, L Füsun Saygılı

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5(2):129-32.

 

Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency ...

Last Updated: 10 Jun 2013

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Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback.
 

Author(s): Vincenzo Rochira, Lucia Zirilli, Alessandro D Genazzani, Antonio Balestrieri, Claudio Aranda, Bibiana Fabre, Paula Antunez, Chiara Diazzi, Cesare Carani, Laura Maffei

Journal: Eur. J. Endocrinol.. 2006 Oct;155(4):513-22.

 

In men, the feedback of gonadotropins is regulated by estrogens that come from the aromatization of testosterone, but the relative contribution to the inhibition of LH and FSH secretion by the amount of locally produced estrogens within the hypothalamus and/or the pituitary, and the ...

Last Updated: 22 Sep 2006

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Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency.
 

Author(s): J P Bilezikian, A Morishima, J Bell, M M Grumbach

Journal: N. Engl. J. Med.. 1998 Aug;339(9):599-603.

 

Last Updated: 27 Aug 1998

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aromatase Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
 

Author(s): A Belgorosky, G Guercio, C Pepe, N Saraco, M A Rivarola

Journal: Horm. Res.. 2009 ;72(6):321-30.

 

cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect ...

Last Updated: 9 Dec 2009

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Symptoms, Diagnosis, and Treatment

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