Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl
| Autor: | Sophie Vallette-Kasic, Susan C. Conrad, Stephen M. Rosenthal, Andrew A. Bremer, Sayali A. Ranadive |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Pediatrics
medicine.medical_specialty Hydrocortisone Endocrinology Diabetes and Metabolism media_common.quotation_subject Anti-Inflammatory Agents Hypopituitarism Adrenocorticotropic hormone Diagnosis Differential Diagnostic Techniques Endocrine Epilepsy Endocrinology Adrenocorticotropic Hormone medicine Adrenal insufficiency Humans Girl Child media_common business.industry medicine.disease Pediatrics Perinatology and Child Health Immunology Acute Disease Female Differential diagnosis business Adrenocorticotropic hormone deficiency medicine.drug |
| Zdroj: | Journal of pediatric endocrinologymetabolism : JPEM. 21(8) |
| ISSN: | 0334-018X |
| Popis: | Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is extraordinarily rare, and the clinical manifestations of its accompanying adrenal insufficiency are diverse. Early-onset forms of IAD have been linked to mutations in the Tpit transcription factor gene TPIT; however, the genetic basis of juvenile- or late-onset IAD is unknown. Herein, we describe a case of a peripubertal girl with IAD and a normal TPIT gene who presented with an acute neurologic emergency, demonstrating both the variable clinical presentation of IAD and the need for continued investigation into the molecular mechanisms underlying juvenile- and late-onset IAD. |
| Databáze: | OpenAIRE |
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