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Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia.


ABSTRACT: BACKGROUND: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. CASE PRESENTATION: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). CONCLUSIONS:We suggest that DAX1 mutations affect a wider variety of endocrine organs than previously known, including the posterior pituitary gland.

SUBMITTER: Seo BK 

PROVIDER: S-EPMC7254651 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia.

Seo Boo Kyeong BK   Jeong Seul Ah SA   Cho Jae Young JY   Park Ji Sook JS   Seo Ji-Hyun JH   Park Eun Sil ES   Lim Jae-Young JY   Woo Hyang-Ok HO   Youn Hee-Shang HS  

BMC endocrine disorders 20200527 1


<h4>Background</h4>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.<h4>Case presentation</h4>A 36-day-old male infant who presented with severe dehydration was admitted to the intensive care unit. His laboratory finding  ...[more]

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