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Ann Pediatr Endocrinol Metab > Volume 17(1); 2012 > Article
Congenital Adrenal Agenesis Presented with Adrenal Insufficiency.
Hong Kyu Park, Eun Jung Shim, Kwan Seop Lee, Il Tae Hwang
1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
2Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
3Department of Radiology, Hallym University College of Medicine, Seoul, Korea.
We report a very rare case of congenital adrenal agenesis presented with adrenal insufficiency in a 4-day-old female newborn. She was admitted with darkish skin color and seizure. Her external genitalia was normal. Elevated serum level of adrenocorticotropic hormone and increased plasma renin activity were observed. Plasma cortisol level and aldosterone level were decreased. Pelvic ultrasonography revealed bilateral agenesis of adrenal glands. Six exons of the steroidogenic factor-1 (SF-1, NR5A1) gene and their intronic flanking sequences were normal. Now, she is continuously receiving replacement doses of glucocorticoids and mineralocorticoids under adrenal insufficiency. Her growth and development are completely normal. We propose that when a patient presents with 46, XY disorder of sex development or normal female genitalia with adrenal insufficiency, SF-1 gene mutation study should be included in the differential diagnosis.
Keywords: Adrenal insufficiency;Adrenal glands
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