Congenital Adrenal Agenesis Presented with Adrenal Insufficiency
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 activi...
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| Published in | Annals of pediatric endocrinology & metabolism Vol. 17; no. 1; pp. 53 - 56 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
대한소아내분비학회
01.03.2012
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2287-1012 2287-1292 |
| DOI | 10.6065/apem.2012.17.1.53 |
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| 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. KCI Citation Count: 0 |
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| AbstractList | 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. KCI Citation Count: 0 |
| Author | Shim, Eun Jung Hwang, Il Tae Park, Hong Kyu Lee, Kwan Seop |
| Author_xml | – sequence: 1 givenname: Hong Kyu surname: Park fullname: Park, Hong Kyu organization: Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea – sequence: 2 givenname: Eun Jung surname: Shim fullname: Shim, Eun Jung organization: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea – sequence: 3 givenname: Kwan Seop surname: Lee fullname: Lee, Kwan Seop organization: Department of Radiology, Hallym University College of Medicine, Seoul, Korea – sequence: 4 givenname: Il Tae surname: Hwang fullname: Hwang, Il Tae organization: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea |
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| Cites_doi | 10.1038/9629 10.1210/jc.2003-031240 10.1210/jc.2004-0935 10.1159/000067831 10.1210/jc.2004-0670 10.1210/jc.86.7.2909 10.1677/jme.0.0170139 10.1210/er.18.3.361 10.1016/S1071-5576(97)00096-8 10.1086/316893 10.1074/jbc.M002892200 10.1111/j.1365-2265.2004.01988.x 10.1210/jc.87.4.1829 |
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| Title | Congenital Adrenal Agenesis Presented with Adrenal Insufficiency |
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