A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease

G Bocca, E G A H van Mil, P G Voorhoeve, L C D Wijnaendts, H A Delemarre-van de Waal

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.

Translated title of the contributionA girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease
Original languageDutch
Pages (from-to)2390-3
Number of pages4
JournalNederlands Tijdschrift voor Geneeskunde
Volume150
Issue number43
Publication statusPublished - 28 Oct 2006

Keywords

  • Adrenal Cortex Diseases/diagnosis
  • Adrenalectomy
  • Adrenocorticotropic Hormone/metabolism
  • Child
  • Cushing Syndrome/diagnosis
  • Cyclic AMP-Dependent Protein Kinases/genetics
  • Dexamethasone
  • Diabetes Mellitus, Type 1/blood
  • Female
  • Humans
  • Hydrocortisone/urine
  • Mutation

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