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 dischar

SUBMITTER: Seo BK 

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

REPOSITORIES: biostudies-literature