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

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.

Citation

Boo Kyeong Seo, Seul Ah Jeong, Jae Young Cho, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn. Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia. BMC endocrine disorders. 2020 May 27;20(1):73

Mesh Tags

Substances

PMID: 32460754

search → result