"Aromatase excess syndrome"

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

-strand conformational polymorphism analyses did not reveal any mutation of the p450 aromatase gene, but an intragenic polymorphic marker cosegregated with the disease phenotype. Excess of serum estrone in the presence of normal 17beta-estradiol levels may be the only indicative serum parameter of this mild manifestation of aromatase excess syndrome, which includes prepubertal gynecomastia and moderate

A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. Aromatase excess syndrome (AES) is a rare hereditary autosomal dominant disorder characterized by increased extraglandular aromatization of steroids and presented with heterosexual precocity in males and isosexual precocity in females. The objective was to study the molecular

Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndrome. We report a case of a 17-year-old boy who had a giant congenital blue naevus with multiple satellite pigmented lesions. Later the patient developed melanoma arising in the pre-existing lesion. He also had gynaecomastia and was diagnosed as having aromatase excess syndrome. To our knowledge

present evidence that the bizarre physical features portrayed in these images are not only realistic but were shared by many members of Egypt's 18th Dynasty. The features are best explained by either 2 different familial disorders-the aromatase excess syndrome and the sagittal craniosynostosis syndrome-or a variant of the Antley-Bixler syndrome caused by a novel mutation in one of the genes controlling

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

Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants. Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been

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