Severe Salt Wasting in a 16-day-old Male
| dc.creator | Hamilton, Luke | |
| dc.creator | Sun Bae, Mi | |
| dc.creator | Cielonko, Luke A. | |
| dc.creator | Hamby, Tyler | |
| dc.creator | Wilson, Don | |
| dc.date.accessioned | 2021-04-30T18:43:37Z | |
| dc.date.available | 2021-04-30T18:43:37Z | |
| dc.date.issued | 2021 | |
| dc.description.abstract | Severe salt-wasting X-linked Adrenal Hypoplasia Congenita (X-AHC) is a rare cause of severe salt-wasting in affected males. We present a 16-day-old non-Hispanic male who experience marked hyponatremia and hyperkalemia, initially thought to have 11-hydroxylase congenital adrenal hyperplasia (CAH). A 16-day-old male was born at term following an uncomplicated pregnancy, labor and delivery. Because of poor feeding, electrolytes were ordered which revealed severe electrolyte imbalance. The child was assumed to have CAH due to elevation of cortisol precursors. He was treated with IV glucocorticoid and remained on IV fluids until his electrolyte balance and acidosis were corrected. These were replaced by oral glucocorticoid and mineralocorticoid, and salt supplementation was given orally. Once able to tolerate oral intake, IV fluids were tapered and discontinued. Based upon the family history, genetic testing was ordered, revealing a mutation in NROB1, consistent with a diagnosis of X-AHC. X-AHC may be misdiagnosed as CAH: a rare disorder caused by a genetic mutation on the NR0B1 gene, is estimated to occur in 1:140,000 to 1:1,200,000 live births. Initial treatment of CAH and X-AHC are similar. Both require mineralocorticoid and glucocorticoid replacement. However, misdiagnosis may lead to life threatening electrolyte abnormalities following withdrawal of mineralocorticoid therapy in infants thought to have 11-OH-lase deficiency. Although much less common than CAH, corrected identification of X-AHC allows proper management, appropriate genetic counseling, and anticipation of concomitant and future co-morbidities associated with X-AHC. | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12503/30627 | |
| dc.language.iso | en | |
| dc.title | Severe Salt Wasting in a 16-day-old Male | |
| dc.type | poster | |
| dc.type.material | text |