Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl.
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.
Bremer
Andrew A
AA
Department of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817-2208, USA. andrew.bremer@ucdmc.ucdavis.edu
Ranadive
Sayali
S
Conrad
Susan C
SC
Vallette-Kasic
Sophie
S
Rosenthal
Stephen M
SM
D000208:Acute Disease; D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002648:Child; D003937:Diagnosis, Differential; D003940:Diagnostic Techniques, Endocrine; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007018:Hypopituitarism / Q000175:diagnosis* / Q000188:drug therapy
D000893:Anti-Inflammatory Agents; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone