Presentation
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]
PATIENTS: The propositus, currently a 17-year-old boy, presented with breast enlargement in the first year of life, which persisted thereafter. [ncbi.nlm.nih.gov]
Entire Body System
- Short Stature
Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature. [medlineplus.gov]
As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. [malacards.org]
In the affected adults, there were short stature (height sd score ranged from -3.7 to -2), gynecomastia in males, and macromastia in females. [ncbi.nlm.nih.gov]
stature Accepted September 18, 2007. [pediatrics.aappublications.org]
- Virilization
The proband developed gynecomastia at 11.5 yr, entered puberty at 12.5 yr, but was incompletely virilized at 19 yr. A similar development was observed in his affected stepbrother and one first-degree cousin. [ncbi.nlm.nih.gov]
In females the lack of estrogen leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal (Bulun 2014). [reactome.org]
Upon the initial identification of patients with AD, certain clinical findings, such as virilization of the pregnant mother and 46,XX fetus, were easily understood based on the known effects of placental aromatase on the conversion of C19 androgens and [books.google.com]
This hormonal situation sufficiently explained the gynecomastia and the incomplete virilization of the proband. [doi.org]
- Male Hypogonadism
This retrospective study echoed the benefit of AI in Indian males in varied conditions. Keywords: Aromatase inhibitors, constitutional delay of puberty, hypogonadism How to cite this article: Singh SK. Aromatase inhibitors in male sex. [ijem.in]
J Clin Endocrinol Metab 49 : 278 – 283 23 1993 Male hypogonadism with gynecomastia caused by late-onset deficiency of testicular 17-ketosteroid reductase. [doi.org]
Loves S, Ruinemans-Koerts J, de Boer H: Letrozole once a week normalizes serum testosterone in obesity-related male hypogonadism. Eur J Endocrinol. 2008, 158: 741-747. 10.1530/EJE-07-0663. CrossRef PubMed Google Scholar 45. [link.springer.com]
View Article PubMed Google Scholar Loves S, Ruinemans-Koerts J, de Boer H: Letrozole once a week normalizes serum testosterone in obesity-related male hypogonadism. Eur J Endocrinol. 2008, 158: 741-747. 10.1530/EJE-07-0663. [rbej.biomedcentral.com]
- Trisomy 21
Genomics 13 : 718 – 725 20 1988 Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. [doi.org]
- Arachnodactyly
Joint hyperlaxity, arachnodactyly, pecus excavatum or carinatum, scoliosis and contractures of the feet (talipes equinovarus) are seen in LDS patients, and are also common in Marfan syndrome. [samj.org.za]
Musculoskeletal
- 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]
The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. [medlineplus.gov]
- Osteoporosis
Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.com]
However, we now know that estradiol plays a significant role for bone health in men, and blocking the conversion could thus lead to osteopenia or even osteoporosis over time. [healio.com]
Below 18 pg/mL increases osteoporosis risk, while levels greater than 30 pg/mL increase heart attack and stroke incidence. [lifeextension.com]
Akhenaten might have suffered from chronic musculoskeletal pain owing to vitamin D deficiency and osteoporosis secondary to LDS, and sunshine exposure might have relieved his pain. [samj.org.za]
Psychiatrical
- Suggestibility
Sequences at the fusion junctions suggested nonallelic homologous recombination, nonhomologous end-joining, and replication-based errors as the underlying mechanisms. [scholars.northwestern.edu]
Their presence in both vertebrates and insects suggests that estrogenic sex hormones have an ancient evolutionary history. [loot.co.za]
The presence of new-onset breast pain,tenderness, or enlargement suggests a more recent, ongoing process and should prompt further testing to detect underlying systemic or endocrine problems. 18. [slideshare.net]
[…] levels of Oestradiol (33, 40 and 37 pmol/l; normal: 15–35) in the presence of undetectable testosterone levels of The finding of raised oestradiol in presence of low testosterone levels in this child with prepubertal gynaecomastia and advanced bone age suggested [endocrine-abstracts.org]
Breast
- Large Breast
large breasts (which may necessitate surgical reduction), problems with fertility, and an increased risk of endometriosis and estrogen-dependent cancers such as breast and endometrial cancers later in life. [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 [monsterologist.blogspot.com]
[…] to excessively large breasts (which may necessitate surgical reduction), problems with fertility, and an increased risk of endometriosis and estrogen-dependent cancers such as breast and endometrial cancers later in life. [2] [9] At least one case of [ipfs.io]
Workup
In summary, we describe two cases of prepubertal unilateral gynecomastia with a normal endocrine workup. [biocoreopen.org]
Serum
- Estrogen Increased
Several studies have reported on the effects and associations between viruses and estrogen metabolism. It has been shown that epstein barr virus is capable of increasing aromatase, favoring elevations in circulating estrogen (7, 8). [metabolichealing.com]
Treatment
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 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]
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]
Prognosis
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]
Etiology
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]
[…] in whom it fits the definition of a kind of androgyne, and in females as hyperfeminization. it's been elucidated that inheritable, chromosome dominant genetic mutations poignant CYP19A1, the sequence that encodes aromatase, area unit concerned in its etiology [humandiseaseinsight.com]
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]
Epidemiology
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]
Pathophysiology
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]
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]
[…] 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]
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]
Prevention
Conclusion: These two cases illustrate the potential of aromatase inhibitors to effectively prevent short stature in aromatase excess syndrome. [abstracts.eurospe.org]
"If we are going to prevent breast cancer, then this message needs to get out, particularly to younger women." That means avoiding becoming overweight as an adult. [feliciaenache.blogspot.com]
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]
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]