Hathi Deep, Goswami Soumik, Sengupta Nilanjan, Baidya Arjun
Department of Endocrinology, Nil Ratan Sircar Medical College, Kolkata, IND.
Cureus. 2022 Feb 9;14(2):e22059. doi: 10.7759/cureus.22059. eCollection 2022 Feb.
Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal virilization during pregnancy due to raised androgen levels in the mother. A 10-month-old child was referred to our outpatient department for the evaluation of ambiguous genitalia. There was a history of maternal virilization during pregnancy. Karyotype of the child was 46XX. Congenital adrenal hyperplasia was ruled out as serum cortisol, plasma adrenocorticotropic hormone, and 17-hydroxyprogesterone were within normal limits. Hormonal assays showed elevated follicle-stimulating hormone and luteinizing hormone, with raised testosterone and low estradiol levels. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation c.1376delA located on exon 10 was identified on the gene. We identified a novel mutation in the gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy.
芳香化酶缺乏症是一种罕见的常染色体隐性疾病，其确切患病率尚不清楚。芳香化酶在性腺组织和性腺外组织中催化雄激素转化为雌激素。芳香化酶缺乏可导致女童生殖器模糊不清，以及由于母亲体内雄激素水平升高而导致孕期母亲男性化。一名10个月大的儿童因生殖器模糊不清被转诊至我们的门诊。有孕期母亲男性化的病史。该儿童的核型为46XX。由于血清皮质醇、血浆促肾上腺皮质激素和17-羟孕酮在正常范围内，排除了先天性肾上腺皮质增生症。激素检测显示促卵泡激素和促黄体生成素升高，睾酮水平升高，雌二醇水平降低。基于这些发现，怀疑为芳香化酶缺乏症。在该基因上鉴定出一个位于第10外显子的新型纯合突变c.1376delA。我们在一名出现生殖器模糊不清和孕期母亲男性化的患者中鉴定出该基因的一个新型突变。
