"Aromatase excess syndrome" from_date:2012

Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression. Genomic rearrangements at 15q21 have been shown to cause overexpression of CYP19A1 and resultant aromatase excess syndrome (AEXS). However, mutation spectrum, clinical consequences, and underlying mechanisms of these rearrangements remain to be elucidated. The aim

, Polat SB, Evranos B, et al; Gynecomastia: Clinical evaluation and management. Indian J Endocrinol Metab. 2014 Mar18(2):150-8. doi: 10.4103/2230-8210.129104.Shozu M, Fukami M, Ogata T; Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. Expert Rev Endocrinol Metab. 2014 Jul9(4):397-409.Breast cancer statistics; Cancer Research UKSwerdloff RS et al

of the hypothalamic-pituitary portion of the pubertal axis. In aromatase excess syndromes, an apparent increase in the extraglandular aromatization of androgens leads to an increase in the circulating estrogen levels. This is associated with isosexual precocious puberty in girls and prepubertal gynecomastia in boys. Sex steroids may also be ingested or absorbed from exogenous sources. Thus, the exact

is probably due to reduced gonadotropin and testosterone levels relative to estrogen and may worsen with refeeding, owing to a rise in estradiol production that outpaces the increases in gonadotropin and testosterone. * * Environmental pollutants: The most likely mechanism is through estrogen receptor binding and activation. * * Androgen insensitivity syndrome * * Aromatase excess syndrome: Familial prepubertal gynecomastia is a rare autosomal dominant inherited disorder that results in an excess estrogen state due to increased aromatase activity. This disorder appears to be due to heterozygous inversion or polymorphisms of the P450 aromatase gene. The phenotypic picture was described in an 8-year-old boy with accelerated growth and bone maturation with severe feminization

of the hypothalamic-pituitary portion of the pubertal axis. In aromatase excess syndromes, an apparent increase in the extraglandular aromatization of androgens leads to an increase in the circulating estrogen levels. This is associated with isosexual precocious puberty in girls and prepubertal gynecomastia in boys. Sex steroids may also be ingested or absorbed from exogenous sources. Thus, the exact

of the hypothalamic-pituitary portion of the pubertal axis. In aromatase excess syndromes, an apparent increase in the extraglandular aromatization of androgens leads to an increase in the circulating estrogen levels. This is associated with isosexual precocious puberty in girls and prepubertal gynecomastia in boys. Sex steroids may also be ingested or absorbed from exogenous sources. Thus, the exact

is probably due to reduced gonadotropin and testosterone levels relative to estrogen and may worsen with refeeding, owing to a rise in estradiol production that outpaces the increases in gonadotropin and testosterone. * * Environmental pollutants: The most likely mechanism is through estrogen receptor binding and activation. * * Androgen insensitivity syndrome * * Aromatase excess syndrome: Familial prepubertal gynecomastia is a rare autosomal dominant inherited disorder that results in an excess estrogen state due to increased aromatase activity. This disorder appears to be due to heterozygous inversion or polymorphisms of the P450 aromatase gene. The phenotypic picture was described in an 8-year-old boy with accelerated growth and bone maturation with severe feminization

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

To estrogens * Aromatase deficiency * Aromatase excess syndrome Other * X-linked ichthyosis

Mixed gonadal dysgenesis None No estimate Aromatase excess syndrome None No estimate

., estrogen, progesterone, and prolactin)[22] and/or growth factors (e.g., hepatocyte growth factor, insulin-like growth factor 1, and epidermal growth factor) in the breasts.[23][24] Macromastic breasts are reported to be composed mainly of adipose and fibrous tissue, while glandular tissue remains essentially stable.[25]Macromastia occurs in approximately half of women with aromatase excess syndrome -thirds of women with macromastia are obese.[25] Aside from aromatase (as in aromatase excess syndrome), at least two other genetic mutations (one in PTEN) have been implicated in causing macromastia.[31][32]A handful of drugs have been associated with gigantomastia, including penicillamine, bucillamine, neothetazone, ciclosporin, indinavir, and prednisolone.[25][33][34]Treatment[edit]Medical treatment