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عنوان فارسی مقاله:
کمبود آروماتاز در یک بیمار مرد - گزارش مورد و مرور ادبیات
عنوان انگلیسی مقاله:
Aromatase deficiency in a male patient - Case report and review of the literature
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
Aromatase, or CYP19A1, is a type II cytochrome P450 enzyme located in the endoplasmic reticulum [1]. It catalyzes the conversion of C19 steroids testosterone, 16alpha-hydroxytestosterone, and androstenedione to C18 steroids 17beta-estradiol, estriol, and estrone respectively [1]. The CYP19A1 gene is located on chromosome 15q21.2 and encodes a roughly 500 amino acid long protein that is expressed throughout the body, including the placenta, gonads, adipose tissue, bone, cartilage, skin, brain and vascular smooth muscle [1,2]. The distinct phenotypes of patients with aromatase deficiency as well as aromatase knockout mice have confirmed a crucial role of aromatase in both female but also male physiology. While the first publications of aromatase expression and its regulation date back to the 1970s, the first case of a patient with aromatase deficiency was only reported in 1991 in a female infant who exhibited signs of a 46, XX disorder of sexual development. In addition, the patient's mother showed increased signs of virilization, elevated androgen levels, and low serum and urinary estrogen levels during the third trimester of her pregnancy [3]. By now, we know that female patients with aromatase deficiency have a dramatic phenotype that includes ambiguous genitalia at birth, failure to enter puberty, a propensity to develop ovarian cysts, and pronounced virilization [4]. Likewise, female aromatase knockout mice develop a male body habitus, have small or polycystic ovaries with no corpora lutei, small uteri, and are infertile [5]. In male mice and humans however, the phenotypic features of aromatase deficiency are more subtle and are mostly related to estrogen actions in bone [4–6]. Male patients with aromatase deficiency are normal at birth. Furthermore, they normally undergo puberty, and only become symptomatic during early adulthood when they begin exhibiting problems with tall stature and bone pain, accompanied by low bone density, unfused growth plates, genu valgum, and increased fractures [6]. The diagnosis is rarely made early. One exception was an asymptomatic boy whose mother had significant virilization during pregnancy [7]. In two other male cases, the suspicion of aromatase deficiency was raised by an earlier diagnosis in their older female siblings [8,9]. The data on male fertility in the presence of aromatase deficiency are nconsistent in humans with both normal [10] and abnormal findings reported [11–13]. Similar to humans, male aromatase knockout mice have low bone density. They are fertile at first, but show decreased fertility at advanced age associated with impaired spermatogenesis [14,15]. Interestingly, sexual behavior, measured as mounting frequency, was signifi- cantly compromised in male aromatase knockout mice prior to apparent infertility [16]. In humans, the data on sexual behavior is limited, though overall normal libido and erections have been reported [6].
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کلمات کلیدی:
Aromatase deficiency in men: a clinical perspective : Article : Nature ... www.nature.com › Journal home › Archive › Review by V Rochira - 2009 - Cited by 63 - Related articles Aug 25, 2009 - At presentation, all men with aromatase deficiency have tall stature, delayed ... The major symptoms that usually induce adult patients to seek ... Aromatase deficiency in a male patient - Case report and ... - Bone www.thebonejournal.com/article/S8756-3282(16)30278-2/abstract by SU Miedlich - 2016 - Cited by 4 - Related articles •We report a new case of a male patient with aromatase deficiency, a very rare disorder in males. •The patient has a known aromatase mutation but less severe ... Publication insights: Aromatase deficiency in a male patient - Case ... https://www.researchgate.net/.../308907676_Aromatase_deficiency_in_a_male_patient_-... Dec 1, 2016 - References, authors & citations for 'Aromatase deficiency in a male patient - Case report and review of the literature' on ResearchGate. Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency www.nejm.org/doi/full/10.1056/NEJM199707103370204 by C Carani - 1997 - Cited by 1073 - Related articles Jul 10, 1997 - In females the lack of estrogen due to aromatase deficiency leads to ... The patient had normal concentrations of serum testosterone, ... Aromatase deficiency - Wikipedia https://en.wikipedia.org/wiki/Aromatase_deficiency Aromatase deficiency is a condition resulting from insufficient production of the enzyme ... The gonadotropins LH and FSH will both be elevated and patients present with ... "Aromatase deficiency in male and female siblings caused by a novel ... Orphanet: Aromatase deficiency www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=91 Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during ... Fertility is partially or completely disrupted in male patients. A case of Aromatase deficiency due to a novel CYP19A1 mutation ... bmcendocrdisord.biomedcentral.com/articles/10.1186/1472-6823-14-16 Feb 19, 2014 - Males are usually diagnosed later in life, are tall due to delayed epiphyseal .... Recently, a patient with aromatase deficiency was found to be ... Handbook of Neuroendocrinology - Page 729 - Google Books Result https://books.google.com/books?isbn=0123750970 George Fink, Donald W. Pfaff, Jon E. Levine - 2012 - Medical infertility, persistent bone growth, and abnormalities in lipid metabolism.48,49 The first male patient with aromatase deficiency was described in 1995.57 ...
