Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence

M. S. Cauble, L. Mack-Shipman, G. B. Schaefer, S. Balakrishnan, J. L. Larsen

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Background: Idiopathic hypothalamic dysfunction is a rare syndrome that has been described in young children. This syndrome is characterized by a disturbance of thirst regulation with hypernatremia, hyperosmolarity, and altered hypothalamic function. Patient report: At age 6 years the reported patients presented with precocious puberty, by age 12 years she had hypernatremia presumed secondary to central diabetes insipidus and was treated with DDAVP, and at age 14 was identified to have hyperprolactinemia. At age 19 she presented with serum sodium of 185 mg/dl during an episode of illness associated with dehydration. After hydration, her sodium remained elevated. Arginine vasopressin was measurable but inappropriate to serum sodium, while urinary cyclic AMP response to vasopressin was appropriate. Conclusions: This is the first case of precocious puberty identified in association with the more classic features of idiopathic hypothalamic dysfunction, including later-onset hypernatremia, poor thermoregulatory function, obesity, and hyperprolactinemia.

Original languageEnglish (US)
Pages (from-to)1163-1167
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Volume14
Issue number8
DOIs
StatePublished - 2001

Keywords

  • Diabetes insipidus
  • Hypernatremia
  • Hyperprolactinemia
  • Puberty

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Fingerprint Dive into the research topics of 'Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence'. Together they form a unique fingerprint.

  • Cite this