Belgini Daiane Rodrigues Barbosa, Mello Maricilda Palandi de, Baptista Maria Tereza Matias, Oliveira Daniel Minutti de, Denardi Fernanda Canova, Garmes Heraldo Mendes, Grassiotto Oswaldo da Rocha, Benetti Pinto Cristina Laguna, Marques-de-Faria Antonia Paula, Maciel-Guerra Andréa Trevas, Guerra-Júnior Gil
Center for Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, SP, Brazil.
Arq Bras Endocrinol Metabol. 2010 Nov;54(8):711-6. doi: 10.1590/s0004-27302010000800008.
In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients.
2004年，科斯塔 - 桑托斯及其同事报告了来自19个巴西家庭的24例17α - 羟化酶缺乏症患者，并表明p.W406R和p.R362C分别对应50%和32%的CYP17A1突变等位基因。本报告描述了来自三个巴西近亲家庭的6例17α - 羟化酶缺乏症患者的临床和分子数据。所有患者在诊断时均患有性腺功能减退、闭经和高血压。发现两名姐妹为46,XY，双侧性腺可在腹股沟区触及。所有患者均表现为高促性腺激素性性腺功能减退，促肾上腺皮质激素水平升高（> 104 ng/mL），血浆肾素活性受抑制，血钾水平低（< 2.8 mEq/L），孕酮水平升高（> 4.4 ng/mL）。其中三人，包括两名姐妹，为p.W406R突变纯合子，另外三人（两名姐妹和一名表亲）为p.R362C纯合子。本文在其他家庭中报告的CYP17A1基因中p.W406R和p.R362C的发现，证实它们是导致巴西患者完全性联合17α - 羟化酶/17,20 - 裂解酶缺乏症的最常见突变。
