Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

GuyMassa; PhilippeGillis; MarianneSchwartz

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Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

机译：由于2种CYP21A2基因的罕见突变而导致的非典型先天性肾上腺皮质增生的症状为过早的胡子

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A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of theCYP21A2gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. An early moustache, for which the term premature moustache can be coined, can be the presenting symptom of nonclassic CAH. In all children presenting with a sex or age inappropriate development of a moustache, an endocrine evaluation is indicated.

机译：一名土耳其男孩在3 6/12岁时被转介评估过早的胡子。没有其他病毒化迹象。内分泌评估可诊断为非经典先天性肾上腺增生。遗传分析显示，CYP21A2基因的2个罕见突变是21-羟化酶的编码基因：最近在外显子3中报道了R132C突变，在外显子8中出现了R339H突变，均在非经典CAH中报道。早期胡须可能是非典型CAH的症状，早期胡须可能会被称为胡须。在所有出现性别或年龄的小胡子不适当发展的儿童中，均需进行内分泌评估。

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《Case Reports in Genetics》 |2011年第1期|共3页
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GuyMassa; PhilippeGillis; MarianneSchwartz;
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1. Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche [J] . Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, Advanced Biomedical Research . 2016,第1期

机译：CYP21A2基因突变在非经典先天性肾上腺皮质增生患者中的作用
2. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia [J] . Barbaro Michela, Soardi Fernanda C., Ostberg Linus J., Clinical Endocrinology . 2015,第1期

机译：罕有CYP21A2突变的体外功能研究和非经典突变的活性梯度的建立改善了先天性肾上腺皮质增生的表型预测
3. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia [J] . Barbaro Michela, Soardi Fernanda C., Ostberg Linus J., Clinical Endocrinology . 2015,第1期

机译：稀有CYP21A2突变的体外功能研究以及非溴突变的活性梯度的建立，提高了先天性增生中的表型预测
4. Effects of Adrenal Steroids on the Bone Metabolism of Children with Congenital Adrenal Hyperplasia [C] . KAREN LIN-SU, MARIA I. NEW Conference on Skeletal Biology and Medicine . 2007

机译：肾上腺类固醇对先天性增生患儿骨代谢的影响
5. Parental management of adrenal crisis in children with congenital adrenal hyperplasia. [D] . Fleming, Louise Kathleen. 2016

机译：先天性肾上腺皮质增生患儿的肾上腺危机的父母管理。
6. Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene [O] . Guy Massa, Philippe Gillis, Marianne Schwartz 2011

机译：由于2种CYP21A2基因的罕见突变而导致的非典型先天性肾上腺皮质增生的症状为早产胡子
7. Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche [O] . Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, 2016

机译：早产儿非经典先天性肾上腺皮质增生患者CYp21a2基因突变检测

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

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