Symptoma

Aromatase Deficiency

Glucocorticoid resistance

We report here a young adult with a late presentation of aromatase deficiency to highlight the differences between the two conditions. A 27 year old lady presented to us with history of primary amenorrhea and masculine voice. [ncbi.nlm.nih.gov]

Males may present with cryptorchidism, but are generally asymptomatic until after puberty when patients present with bone pain and tall stature. [orpha.net]

  • Tall Stature

    The GH deficiency (GHD) coexists paradoxically with tall stature, raising the question whether or not a true GHD is part of this rare syndrome. [ncbi.nlm.nih.gov]

    The lack of estrogen results in the presentation of primary amenorrhea and tall stature. [en.wikipedia.org]

  • Cerebral Palsy

    Neuropsychological effects of hyperbaric oxygen therapy in cerebral palsy. Developmental Medicine & Child Neurology, 44(7), 436-446. [tovatest.com]

  • Genu Valgum

    The pubertal growth spurt is absent, but linear growth continues due to incomplete epiphyseal closure and progressive genu valgum, eunuchoid proportion of the skeleton and osteoporosis manifest. [orpha.net]

    The phenotype of 46,XY males with aromatase deficiency is variable, but common features include tall stature with delayed closure of the epiphyses, osteoporosis, eunuchoid body habitus, abdominal adiposity, gynecomastia, and progressive genu valgum. [genedx.com]

    valgum Source: AROMATASE DEFICIENCY I have commented before that I think retarded bone age is a useful marker of some types of autism. [epiphanyasd.blogspot.com]

  • Suggestibility

    The concentrations of estrone and 17β-estradiol precursors were comparable between groups, suggesting that placental aromatase is deficient in preeclampsia. [ncbi.nlm.nih.gov]

Following the examination by the family’s pediatrician, female pseudohermaphroditism was suspected, and a comprehensive workup was initiated. The hormonal changes in the mother before and after delivery are reported in Table 2. [academic.oup.com]

  • Delayed Bone Age

    The patient presented with low bone mass and delayed bone age after a finger fracture at age 25years. [ncbi.nlm.nih.gov]

    The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones ( osteoporosis ), which can lead to bone fractures with little trauma. [ghr.nlm.nih.gov]

  • Increased Bone Density

    In males, transdermal estradiol replacement enable epiphyseal plates closure, increases bone density, promote skeletal maturation, lower FSH and LH level to normal and decrease insulin blood concentration. [en.wikipedia.org]

  • Sperm Count Increased

    After 3 months of treatment, the sperm count increased (23.1 million/ml) and decreased rapidly (1.1 million/ml) during the following 3 months. The sperm motility was reduced at baseline and decreased further during treatment. [ncbi.nlm.nih.gov]

  • Glucose Decreased

    AUC glucose decreased continuously after oral glucose load, and HOMA IR reached its lowest value the 75 microg weekly estradiol dose. This study confirms the role of estrogens in achieving bone mineralization and maturation in human males. [ncbi.nlm.nih.gov]

An iliac crest bone biopsy was performed only before and after the raloxifene treatment, but it was not repeated after transdermal estradiol treatment. [ncbi.nlm.nih.gov]

Prognosis Lifetime hormone replacement therapy is obligatory. In male patients with late diagnosis, skeletal defects remain even after successful hormonal treatment and may require surgical correction. [orpha.net]

[…] women. [ PMID 17827443 ] Interaction of soy food and tea consumption with CYP19A1 genetic polymorphisms in the development of endometrial cancer. [ PMID 18049890 ] Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis [snpedia.com]

[…] obstructions) Osteoporosis and pathologic fractures Diagnostics : Hypergonadotropic hypogonadism estrogen, androgens, follicle stimulating hormone, luteinizing hormone Karyotyping confirms the diagnosis Therapy : estrogen and progestogen substitution Prognosis [amboss.com]

In newborns, aromatase deficiency should be considered in the etiology of 46,XX DSD, after ruling out congenital adrenal hyperplasia. [ncbi.nlm.nih.gov]

Etiology Aromatase ( CYP19A1, 15q21.1), or cytochrome P450, synthesizes estradiol from androgens. [orpha.net]

Abstract Female pseudohermaphroditism is caused by several etiologies. Here we report a case of aromatase deficiency who showed ambiguous genitalia and maternal virilization during pregnancy. [archive.org]

CONCLUSION: These results indicate that estrogen fluctuations may be an important factor in the etiology of bipolar disorder and it is obvious that more research on this topic is needed to clarify the role of estrogen in women with bipolar disorder. [epiphanyasd.blogspot.com]

Summary Epidemiology Fewer than 20 cases have been reported to date. [orpha.net]

Baumgartner RN et al. (1995) Human body composition and the epidemiology of chronic disease. Obes Res 3 : 73–95 35. Horber FF et al. (1997) Effect of sex and age on bone mass, body composition and fuel metabolism in humans. [doi.org]

This organization is derived from epidemiological research on the most prevalent combinations of psychiatric disorders. /// This book is intended as a practical compendium of clinical advice and recommendations for mental health professionals. [tovatest.com]

OBJECTIVE: Experimental data have revealed the critical role played by 2-methoxy-estradiol, a metabolite of 17β-estradiol, in the pathophysiology of preeclampsia. [ncbi.nlm.nih.gov]

The pathophysiology of the maternal syndrome has been clarified in the last 6 years. [obgynkey.com]

[…] insensitivity): high-dose androgen therapy Gonadectomy for intra-abdominal testicles typically performed after puberty ( high risk of malignancy ) Psychological support References: [1] Aromatase deficiency Karyotype : 46 XX or 46 XY (normal sex development) Pathophysiology [amboss.com]

In: Pasqualini JR, Scholler R (eds) Hormones and Fetal Pathophysiology. New York : Marcel Dekker; 251–270. 11, Kubota Y. 1991 A new cause of female Pseudohermaphroditism: placental aromatase deficiency. [academic.oup.com]

We hypothesised that cerebral ischaemia at birth could contribute to persistent deficient dopaminergic neurotransmission, which is thought to be the pathophysiological basis of the disorder. [tovatest.com]

The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty. [ncbi.nlm.nih.gov]

Yet a lack of aromatase in the breast tissue induces a positive result by preventing estrogen dependent breast cancer. [www-personal.umd.umich.edu]

Facts : Rare enzyme deficiency that prevents the conversion of androgens to estrogens History / PE : Clitoromegaly Delayed puberty Normal internal anatomy, ambiguous external anatomy Diagnosis : Undetectable circulating estrogens Polycystic ovaries High [medlibes.com]

It is noteworthy that the reduction in androgens with age is not prevented by activation of the counterregulation mechanism. [google.ch]

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