Neonatal-onset panhypopituitarism in a girl wih Brachmann-De Lange syndrome

G. Tonini, S. Marinoni

Research output: Contribution to journalArticle

Abstract

We report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann-De Lange syndrome (BLDS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch-up. Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.

Original languageEnglish
Pages (from-to)102-103
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume36
Issue number1
Publication statusPublished - 1990

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Keywords

  • GH deficiency
  • hypopituitarism

ASJC Scopus subject areas

  • Genetics(clinical)

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