August 25, 2009 Journal article Open Access

Rochira, Vincenzo; Carani, Cesare

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{
  "description": "Human aromatase deficiency is a very rare disease caused by CYP19A1 aromatase gene\nmutations resulting in congenital estrogen deprivation. The substantial clinical experience of the\npresentation, diagnosis and intervention is reviewed in order to describe in a systematic way the clinical\naspects of the disease in men and to provide useful clinical advice for its management. At presentation,\nthe clinical features common to all aromatase-deficient men are: tall stature, delayed bone maturation,\nosteopenia/osteoporosis, and eunuchoid skeleton. The diagnosis is almost always delayed and generally\nis made during adulthood. An adequate clinical path allows to confirm or reject the clinical diagnosis in\nall patients suspected with the disease. Unfused epiphyses and undetectable serum estradiol support a\nclinical diagnosis, the genetic sequencing of the CYP19A1 gene further substantiating the diagnosis.\nTransdermal estradiol treatment and a dosage of 0.22-0.35 \u03bcg/kg should be considered as adequate for\nreplacement therapy and continued lifelong. Serum estradiol, luteinizing-hormone (LH), testosterone\nand bone mineral density (BMD) should be carefully monitored and considered, in clinical practice, as\npowerful biochemical markers of adequate estrogen substitution and. The gold standard for starting\nestrogen treatment seems to be puberty and early diagnosis should be advocated to avoid disease\noverlook and undermanagement.", 
  "license": "", 
  "creator": [
    {
      "@id": "https://orcid.org/0000-0001-8169-0696", 
      "@type": "Person", 
      "name": "Rochira, Vincenzo"
    }, 
    {
      "@type": "Person", 
      "name": "Carani, Cesare"
    }
  ], 
  "headline": "Aromatase deficiency in men: a clinical perspective", 
  "image": "https://zenodo.org/static/img/logos/zenodo-gradient-round.svg", 
  "datePublished": "2009-08-25", 
  "url": "https://zenodo.org/record/890683", 
  "@context": "https://schema.org/", 
  "identifier": "https://doi.org/10.1038/nrendo.2009.176", 
  "@id": "https://doi.org/10.1038/nrendo.2009.176", 
  "@type": "ScholarlyArticle", 
  "name": "Aromatase deficiency in men: a clinical perspective"
}