ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 3 Issue : 4 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia? [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(4): 219-221 | DOI: 10.4274/jcrpe.369

Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?

Sebahat Yılmaz Ağladıoğlu1, Zehra Aycan1, Havva Nur Peltek Kendirci1, Nilgün Erkek2, Veysel Nijat Baş1
1Dr. Sami Ulus Obstetrics And Gynecology, Pediatric Health And Disease Training And Research Hospital, Clinics Of Pediatric Endocrinology, Ankara, Turkey
2Dr. Sami Ulus Obstetrics And Gynecology, Pediatric Health And Disease Training And Research Hospital, Clinics Of Pediatrics, Ankara, Turkey

Hyponatremia and hyperpotassemia occurring in the first few weeks of life primarily indicate aldosterone deficiency due to salt-losing congenital adrenal hyperplasia (SL-CAH), while mineralocorticoid deficiency and insensitivity are the main causes of hyponatremia and hyperpotassemia in older infants. Some patients who present with vomiting and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as CAH, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA). This situation has been reported several times before. The cases described here represent the opposite situation: they presented with hyponatremia and hyperpotassemia, thus PHA was considered as aldosterone levels were very high, but subsequent investigation and genetic analysis led to the diagnosis of SL-CAH.

Keywords: Pseudohypoaldosteronism,congenital adrenal hyperplasia

Sebahat Yılmaz Ağladıoğlu, Zehra Aycan, Havva Nur Peltek Kendirci, Nilgün Erkek, Veysel Nijat Baş. Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?. J Clin Res Pediatr Endocrinol. 2011; 3(4): 219-221
Manuscript Language: English
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