DAX1 mutations are related to the X-linked form of adrenal hypoplasia congenita (AHC) in infancy and to hypogonadotropic hypogonadism (HH) in puberty. We report a male patient affected by X-linked AHC who presented with central diabetes insipidus and schwannoma in adulthood, which has not been described in association with AHC. A 36-day-old male infant who presented with severe dehydration was admitted to the intensive care unit. His laboratory findings showed hyponatremia, hyperkalemia, hypoglycemia, and metabolic acidosis. After hormonal evaluation, he was diagnosed with adrenal insufficiency, and he recovered after treatment with hydrocortisone and a mineralocorticoid. He continued to take hydrocortisone and the mineralocorticoid after discharge. At the age of 17, he did not show any signs of puberty. On the basis of a GnRH test, a diagnosis of HH was made. At the age of 24, he was hospitalized with thirst, polydipsia and polyuria. He underwent a water deprivation test for polydipsia and was diagnosed with central diabetes insipidus. By quantitative polymerase chain reaction analysis, we identified a hemizygous frameshift mutation in DAX1 (c.543delA). We suggest that DAX1 mutations affect a wider variety of endocrine organs than previously known, including the posterior pituitary gland.

中文翻译：

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报告：男性X线性先天性肾上腺发育不全的中枢性尿崩症和神经鞘瘤。

DAX1突变与婴儿期先天性肾上腺发育不全（AHC）的X连锁形式以及青春期性腺功能减退性腺功能减退（HH）有关。我们报道了一名患有X连锁AHC的男性患者，在成年期出现中枢性尿崩症和神经鞘瘤，但尚未与AHC进行描述。患有严重脱水的36日龄男婴被送入重症监护室。他的实验室检查结果显示低钠血症，高钾血症，低血糖症和代谢性酸中毒。经激素评估后，他被诊断出肾上腺功能不全，并在接受氢化可的松和盐皮质激素治疗后康复。出院后他继续服用氢化可的松和盐皮质激素。他17岁那年没有任何青春期迹象。根据GnRH测试，诊断为HH。他在24岁时因口渴，多饮和多尿而住院。他接受了多饮水的缺水测试，并被诊断出患有中枢性尿崩症。通过定量聚合酶链反应分析，我们确定了DAX1（c.543delA）中的半合子移码突变。我们建议DAX1突变影响比以前已知的更广泛的内分泌器官，包括垂体后叶。