Warning: mkdir(): Permission denied in /home/virtual/lib/view_data.php on line 81 Warning: fopen(/home/virtual/e-apem/journal/upload/ip_log/ip_log_2022-06.txt): failed to open stream: No such file or directory in /home/virtual/lib/view_data.php on line 83 Warning: fwrite() expects parameter 1 to be resource, boolean given in /home/virtual/lib/view_data.php on line 84 Congenital Adrenal Agenesis Presented with Adrenal Insufficiency.
Ann Pediatr Endocrinol Metab Search

CLOSE


Ann Pediatr Endocrinol Metab > Volume 17(1); 2012 > Article
DOI: https://doi.org/10.6065/apem.2012.17.1.53   
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. ithwang83@hallym.or.kr
3Department of Radiology, Hallym University College of Medicine, Seoul, Korea.
Abstract
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
TOOLS
Share :
Facebook Twitter Linked In Google+
METRICS Graph View
  • 2 Crossref
  •    
  • 3,268 View
  • 18 Download
Related articles in APEM

Congenital Adrenal Hyperplasia in Korea.2005 December;10(2)



ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
#510, DoosanBearstel 381, Gangnam-daero, Seocho-gu, Seoul 06620, Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: kspe.editor@gmail.com                

Copyright © 2022 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next