Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation

Klinische Pädiatrie
A HolzingerH-P Schwarz

Abstract

Extreme hyponatremia (<105 mmol/l) has rarely been reported in infants. It is potentially life-threatening and requires intensive care treatment. We report on a male infant with absence of weight gain from birth to day 33 of life despite adequate nutrition. On admission serum sodium and potassium were 104 and 5.9 mmol/L respectively. The infant's physical status revealed dehydration, but normal activity with no apparent neurological, circulatory or respiratory impairment. Global adrenocortical insufficiency was diagnosed and treated with hormonal substitution in addition to intravenous application of fluid, glucose and electrolytes. The rise of serum sodium was carefully monitored and adjusted to a target rate of 0.5 mmol/L/h. X-linked adrenal hypoplasia congenita (X-AHC) was confirmed by the identification of a novel nonsense NR0B1 (DAX-1) mutation (W236X). X-AHC in infants may present as failure to thrive despite adequate nutrition. Extreme hyponatremia may be associated with little symptoms if developing slowly. Rehydration and slow correction of serum sodium with solutions containing less sodium than normal saline is essential.

Citations

Apr 25, 2009·Current Opinion in Endocrinology, Diabetes, and Obesity

❮ Previous
Next ❯

Related Concepts

Related Feeds

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Hormones : International Journal of Endocrinology and Metabolism
Aleksandra RojekMarek Niedziela
The Journal of the Indiana State Medical Association
M A Rahmany
© 2022 Meta ULC. All rights reserved