Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency

G. Birrell, A. Lampe, S. Richmond, S. N. Bruce, J. Gécz, K. Lower, M. Wright, T. D. Cheetham

Research output: Contribution to journalArticle

15 Citations (Scopus)


We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A→T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. Biochemical investigations and radiology confirmed growth hormone (GH), thyroid stimulating hormone (TSH) and adrenocorticotrophic hormone (ACTH) as well as gonadotrophin deficiency. They were also found to have optic nerve hypoplasia. This family suggests that the BFL gene product may play an important role in midline neuro-development including the hypothalamo-pituitary axis.

Original languageEnglish
Pages (from-to)1295-1300
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number9
Publication statusPublished - 1 Dec 2003
Externally publishedYes


  • Borjeson-Forssman-Lehmann syndrome
  • Multiple pituitary hormone deficiency
  • Optic nerve hypoplasia
  • PHF6 mutation

ASJC Scopus subject areas

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

Cite this

Birrell, G., Lampe, A., Richmond, S., Bruce, S. N., Gécz, J., Lower, K., ... Cheetham, T. D. (2003). Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology and Metabolism, 16(9), 1295-1300.