PDF(Pubmed)
Abstract：
Adrenal hypoplasia congenita (AHC) is a rare X-linked recessive disease caused by mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, which is also referred to as dosage-sensitive sex-reversal, adrenal hypoplasia congenita, in the critical region of the X chromosome, gene 1 (DAX1). This gene is expressed in the hypothalamus, anterior pituitary and steroidogenic tissues, including the gonads and adrenal cortex. Adult-onset forms of X-linked AHC are a significant cause of concern. In the present study, the case of a 21-year-old male who exhibited adrenal insufficiency and hypogonadotropic hypogonadism was described. The patient initially presented with nausea, vomiting, fatigue and dizziness. The laboratory results demonstrated that the patient had hyponatremia, a low basal cortisol concentration and increased adrenocorticotropic hormone levels. Molecular genetic examination revealed a novel frameshift mutation (c.1005delC, p.V336Cfs*36). Following steroid supplementation, the patient\'s vomiting, fatigue and dizziness rapidly improved. To the best of our knowledge, the present study was the first case report of adult-onset X-linked AHC with this novel frameshift mutation. Furthermore, the present study highlighted differences in the clinical presentation of adult-onset forms of X-linked AHC. This may therefore alert medical professionals to the need to perform genetic analysis for DAX1 mutations in adolescents and adults with primary adrenal insufficiency and hypogonadotropic hypogonadism.
摘要：
先天性肾上腺皮质发育不全（AHC）是一种罕见的X连锁隐性疾病，由核受体亚家族0，B组突变引起，成员1（NR0B1）基因，这也被称为剂量敏感性逆转，先天性肾上腺发育不全,在X染色体的关键区域，基因1(DAX1)。这个基因在下丘脑中表达，垂体前叶和类固醇生成组织，包括性腺和肾上腺皮质.X连锁AHC的成人发作形式是令人关注的重要原因。在本研究中,描述了一名21岁男性表现出肾上腺功能不全和低促性腺激素性性腺功能减退的病例。患者最初表现为恶心，呕吐,疲劳和头晕。实验室结果显示病人有低钠血症,基础皮质醇浓度低，促肾上腺皮质激素水平升高。分子遗传学检查揭示了一种新的移码突变(c.1005delC，第V336Cfs*36页)。补充类固醇后，病人呕吐，疲劳和头晕迅速改善。据我们所知,本研究是首例具有这种新型移码突变的成人发病X连锁AHC病例报告.此外，本研究强调了X连锁AHC成人发病形式的临床表现的差异.因此，这可能会提醒医学专业人员需要对患有原发性肾上腺功能不全和低促性腺激素性腺功能减退症的青少年和成人进行DAX1突变的遗传分析。
