Costenaro Fabíola, Rodrigues Ticiana C, Kater Claudio E, Auchus Richard J, Papari-Zareei Mahboubeh, Czepielewski Mauro A
Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, RS, Brazil.
Arq Bras Endocrinol Metabol. 2010 Nov;54(8):744-8. doi: 10.1590/s0004-27302010000800014.
Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients with this form of CAH. The patient, raised as a normal female, sought medical care for lack of pubertal signs and primary amenorrhea at the age of 16 years. At evaluation, the presence of a 46,XY karyotype, hypertension and hypokalemia were observed. We emphasize the recognition of CYP17 deficiency in the differential diagnosis of cases of hypergonadotrophic hypogonadism and hypertension in young patients who need specific treatment for both situations.
由17α-羟化酶/17,20-裂解酶缺乏引起的先天性肾上腺增生（CAH）是一种罕见的常染色体隐性疾病，是巴西第二常见的CAH形式。我们描述了一名巴西患者的病例，该患者因CYP17基因第1外显子上的纯合p.R96W突变导致CYP17缺乏（17α-羟化酶/17,20-裂解酶缺乏），这种基因型在患有这种形式CAH的巴西患者中并不常见。该患者自幼被当作正常女性抚养，16岁时因缺乏青春期体征和原发性闭经寻求医疗护理。评估时，发现其核型为46,XY，存在高血压和低钾血症。我们强调，对于需要针对这两种情况进行特殊治疗的年轻患者，在高促性腺激素性性腺功能减退和高血压病例的鉴别诊断中要认识到CYP17缺乏。
