Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia.
BMC Endocr Disord
; 20(1): 73, 2020 May 27.
Article
en En
| MEDLINE
| ID: mdl-32460754
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diabetes Insípida Neurogénica
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Receptor Nuclear Huérfano DAX-1
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Insuficiencia Corticosuprarrenal Familiar
/
Neurilemoma
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Humans
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Infant
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Male
Idioma:
En
Revista:
BMC Endocr Disord
Año:
2020
Tipo del documento:
Article
País de afiliación:
Corea del Sur