Year: 2024
Type: article
Study design: Case Report
Abstract: Congenital adrenal hyperplasia (CAH) is a relatively rare disorder. This case report aims to highlight the diagnostic challenges clinicians face when the typical characteristics of the disease are not fully present. The patient presented her first episode at two months of age, arriving at the emergency room with vomiting, diarrheal stools, dehydration, and lethargy. Physical examination revealed slight clitoral hypertrophy. Electrolyte tests showed sodium at 121 mEq/L and potassium at 5.8 mEq/L, without hyperpigmentation or genital ambiguity. Based on these findings, CAH was suspected. Due to environmental limitations, 17-hydroxyprogesterone serum levels could not be measured. Treatment was initiated with prednisone (1 mg orally) and sodium chloride supplementation in feeding bottles. The patient was readmitted the following month after another hospital advised discontinuing the medication. She still showed no hyperpigmentation, and the clitoris had not increased significantly, but she again presented with vomiting, dehydration, hyponatremia, and hyperkalemia. Treatment was reinstated, stabilizing the patient, and she was discharged. Subsequent monthly consultations revealed poor weight and height gain. At one year of age, the mother reported clitoral enlargement and morning erections. The family obtained fludrocortisone and oral hydrocortisone, leading to significant positive changes. A genetic study sent to Japan confirmed a mutation in the CYP21A2 gene.
Source: Medical Science and Discovery
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4403001707