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]

• High Pitched Voice

  a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads), oligozoospermia (low sperm [en.wikipedia.org]

  The physical characteristics include: normal facial features, childlike high pitched voice, proportioned body, and abnormal genitalia. Their mental development is normal to slightly delayed. [howlingpixel.com]

  a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty ), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads ), oligozoospermia (low [ipfs.io]

  Sparse facial hair and a high-pitched voice are also characteristics in some cases. [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]

• Large Breast

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

  Medical treatment of AES is not absolutely necessary, but it is recommended as the condition, if left untreated, can lead to excessively large breasts (which may necessitate surgical reduction), problems with fertility, and possibly an increased risk [dict.eudic.net]

• Apathy

  Major clinical signs include weight loss (often accompanied by an increased appetite), anxiety, intolerance to heat, fatigue, hair loss, weakness, hyperactivity, irritability, apathy, depression, polyuria, polydipsia, delirium, and sweating. [howlingpixel.com]

• 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]

• 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]

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

Topical dihydrotestosterone is an efficient alternative treatment in men with hyperestrogenism; in addition, second generation aromatase inhibitors are useful in both sexes. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

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

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]

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]

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]

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. [dict.eudic.net]

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]

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]

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 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]

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]