背景:芳香化酶缺乏症是一种罕见的疾病,印度只报道了几例。我们描述了印度西部的单中心体验,通过对经过遗传证明的46,XX芳香化酶缺乏症患者进行系统评价,以评估激素参数。
方法:回顾性回顾病例记录,整理表型和基因型数据和分子建模。46,XX芳香化酶缺乏症的系统评价,分析促性腺激素的数据,雌激素和雄激素.
结果:在我们中心的7名患者中,在童年或青春期表现频繁(4/7:青春期延迟或雄激素过多症),母亲男性化(4/7),PraderIII/IV(5/7)的优势,和最初的雌性饲养(6/7)。三名患者卵巢发育不良。一名患者有自发的规律月经。我们报道了三本小说(p。Arg115Pro,p.Arg192Pro,和c.145+1_145+4delins)和两个轮回变体(p。Val370Met,和大约145+1_145+4delins)在印度西部和北部,分别。关于系统评价(n=43),促性腺激素随着年龄(早产儿除外)升高(FSH>LH),大约三分之一的病例在童年和青春期期间雄激素升高,在小青春期和青春期,雌二醇低于对照组。在非截断和截断变异的患者中,囊性卵巢和条纹卵巢明显更常见,分别。
结论:我们报告了不常见的演示文稿,可能有创始人变体,并突出显示不同年龄的荷尔蒙参数。除早产外,血清FSH水平升高,并可用作诊断标记。
BACKGROUND: Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic
review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters.
METHODS: Retrospective
review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic
review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens.
RESULTS: In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic
review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively.
CONCLUSIONS: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.