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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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 8 free, full-text research articles on human participants. First 3 results:

Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.
 

Author(s): Zhike Chen, Ou Wang, Min Nie, Kathleen Elison, Dujin Zhou, Mei Li, Yan Jiang, Weibo Xia, Xunwu Meng, Shiuan Chen, Xiaoping Xing

Journal: Mol. Cell. Endocrinol.. 2015 Jan;399():32-42.

 

Aromatase deficiency is a rare disorder resulting in estrogen insufficiency in humans. It has been reported in remarkably few men with loss-of-function mutations in the CYP19A1 gene encoding the aromatase, a cytochrome P450 enzyme that plays a crucial role in the biosynthesis of estrogens ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Bone has a sexually dimorphic response to aromatase deficiency.
 

Author(s): O K Oz, J E Zerwekh, C Fisher, K Graves, L Nanu, R Millsaps, E R Simpson

Journal: J. Bone Miner. Res.. 2000 Mar;15(3):507-14.

 

Aromatase synthesizes estrogen from androgen precursors. To better understand the role of estrogen in skeletal metabolism and growth, we have assessed long bone growth and histomorphometry in aromatase-deficient (ArKO) mice. The age range for the animals was 5-7 months. At this age ...

Last Updated: 31 Dec 1969

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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 2 free, full-text review articles on human participants. First 3 results:

Aromatase and estrogen receptor α deficiency.
 

Author(s): Serdar E Bulun

Journal: Fertil. Steril.. 2014 Feb;101(2):323-9.

 

Studies on the phenotypes of women and men with mutations disrupting estrogen biosynthesis and action have significantly advanced our knowledge of the physiologic roles of estrogen in humans. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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