Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism [orpha.net]

Familial hyperestrogenism is a rare clinical condition of unknown etiology in which patients present excessive androgen to estrogen conversion. Excessive aromatization is primarily ascribed to abnormalities in the CYP19. [ncbi.nlm.nih.gov]

We present a prepubertal boy with gynaecomastia who was not found to have any mutation in the coding part of the aromatase gene. An 8 year-old boy presented with slowly progressive bilateral gynaecomastia. [endocrine-abstracts.org]

• Accelerated Growth

  The patient was 178 cm tall without accelerated growth velocity, weighing 68 kg. Palpation of the right breast revealed a firm mass meas¬uring approximately 5 cm in diameter, with tenderness on deep palpation, Tanner stage V. [biocoreopen.org]

  (D) Acceleration of bone growth. Differences between bone age and chronological age (years) are plotted against chronological age. Acceleration of bone growth becomes evident before 10 years of age. [doi.org]

  The clinical picture consists of gynecomastia, accelerated growth and premature bone maturation due to excessive peripheral estrogen synthesis. [link.springer.com]

• Proportionate Short Stature

  His mother (II,6), who presumably transmitted the disturbance to both of her sons, had severe proportionate short stature (145.7 cm) but reportedly normal age at thelarche and menarche and no macromastia. [doi.org]

• Advanced Bone Age

  Minor symptoms (variably advanced bone age and short adult height), if present, are exclusively because of estrogen excess. Serum estradiol levels are elevated in 48% of affected males, but are not necessarily useful for diagnosis. [archive.org]

  bone age suggested a diagnosis of aromatase excess syndrome, which prompted further investigations into mutations of the CYP19 gene. [endocrine-abstracts.org]

  Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. [genome.jp]

• Onset in Adolescence

  ORPHA:178345 Synonym(s): AEXS Familial hyperestrogenism Hereditary prepubertal gynecomastia Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent ICD-10: E30.1 OMIM: 139300 UMLS: C1970109 MeSH: - GARD: 12494 MedDRA: - The documents [orpha.net]

• Enlarged Uterus

  We conclude that the phenotype of familial hyperestrogenism includes prepubertal gynecomastia, hypogonadism, and short stature in men, and precocious thelarche, macromastia, enlarged uterus, and menstrual irregularities in women. [ncbi.nlm.nih.gov]

  uterus, menstrual irregularities, and, similarly to males, accelerated bone maturation and short final height. [en.wikipedia.org]

  In Females isosexual precocity (precocious puberty with phenotypically-appropriate secondary sexual characteristics) macromastia (excessively large breasts) an enlarged uterus menstrual irregularities, and, similarly to males, accelerated bone maturation [dict.eudic.net]

In summary, we describe two cases of prepubertal unilateral gynecomastia with a normal endocrine workup. [biocoreopen.org]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment Several treatments have been found to be effective in managing AES, including aromatase inhibitors and gonadotropin-releasing hormone analogues in both sexes, androgen replacement therapy with non-aromatizable androgens such as DHT in males, [monsterologist.blogspot.com]

Treatment of the propositus and his sister was initiated with an aromatase inhibitor (testolactone) and a GnRH analog, which successfully delayed skeletal and pubertal development in both children. [ncbi.nlm.nih.gov]

Tamoxifen has been shown to be more effective both for prophylaxis and treatment, however. [ 12 ] Prognosis Gynaecomastia is mostly a benign condition. [patient.info]

Estrone sulfate (E1S), a prognosis marker for tumor aggressiveness in prostate cancer (PCa). J Steroid Biochem Mol Biol. 2008 Mar;109(1-2):158-67. 30. Prins GS, Korach KS. [lifeextension.com]

Because of the limited final height prognosis ( The stepsister (III;9) of the proband was accidentally diagnosed with late-onset adrenal hyperplasia during this study. [doi.org]

Familial hyperestrogenism is a rare clinical condition of unknown etiology in which patients present excessive androgen to estrogen conversion. Excessive aromatization is primarily ascribed to abnormalities in the CYP19. [ncbi.nlm.nih.gov]

Our patient had no signs of being overweight; therefore, obesity was excluded as the etiology for the gynecomastia. [biocoreopen.org]

The root cause of AEXS is not entirely clear, but it has been elucidated that inheritable, autosomal dominant genetic mutations affecting CYP19A1, the gene which encodes aromatase, are involved in its etiology. [en.wikipedia.org]

Cause The root cause of AES is not entirely clear, but it has been elucidated that inheritable, autosomal dominant genetic mutations affecting CYP19A1, the gene which encodes aromatase, are involved in its etiology. [monsterologist.blogspot.com]

We can't do much more," Carlo La Vecchia, head of epidemiology at the University of Milan, said in an interview. "It's time to move on to other things." La Vecchia spoke Thursday at a European breast cancer conference in Barcelona. [feliciaenache.blogspot.com]

Epidemiology Gynaecomastia is common and is thought to be present in at least a third of men in the course of their lifetime. [ 2 ] Prevalence of asymptomatic gynaecomastia is reported as 60-90% of neonates, 50-60% of adolescents, and 70% in men aged [patient.info]

Brassica vegetables and prostate cancer risk: a review of the epidemiological evidence. Nutr Cancer. 2002;42(1):1-9. 60. Grainger EM, Schwartz SJ, Wang S, et al. [lifeextension.com]

In this chapter we summarize the clinical characteristics, pathophysiology, differential diagnosis, and treatment of human AD. The implications of AD for the clinical use of aromatase inhibitors are reviewed. [books.google.com]

[…] receptor blockers (bicalutamide, flutamide), [14] zanoterone, spironolactone, 5-alpha reductase inhibitors, [15] H2 receptor blockers (cimetidine more than ranitidine), [16] proton pump inhibitors (impair testosterone action less than H2 blockers). [17] Pathophysiology [online.epocrates.com]

Treatment for Increased Estrogen and Decreased Testosterone Inappropriate diet is considered the main cause of insulin resistance, which is the primary pathophysiologic feature of metabolic syndrome. [ndnr.com]

In addition, extragonadal estrogen biosynthesis plays an important but often underestimated physiological and pathophysiological role, for example in breast cancer and endometriosis. [doi.org]

Pathophysiology [ 5 ] Oestrogen stimulates breast tissue growth whilst androgens inhibit it. The important factor is the ratio of active androgens to oestrogens. [patient.info]

Conclusion: These two cases illustrate the potential of aromatase inhibitors to effectively prevent short stature in aromatase excess syndrome. [abstracts.eurospe.org]

A 10-year-old girl with gigantomastia has subsequently also been described.[1] Fertility, though usually affected to one degree or another—especially in males—is not always impaired significantly enough to prevent sexual reproduction, as evidenced by [en.wikipedia.org]

Fertility, though usually affected to one degree or anotherâ€"especially in malesâ€"is not always impaired significantly enough to prevent sexual reproduction, as evidenced by vertical transmission of the condition by both sexes. [monsterologist.blogspot.com]

In Both Fertility, though usually affected to one degree or another—especially in males—is not always impaired significantly enough to prevent sexual reproduction, as evidenced by vertical transmission of the condition by both sexes. [dict.eudic.net]

Fertility, though usually affected to one degree or another--especially in males--is not always impaired significantly enough to prevent sexual reproduction, as evidenced by vertical transmission of the condition by both sexes. [weiodat.blogspot.com]