Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Date
2003
Authors
Birrell, G.
Lampe, A.
Richmond, S.
Bruce, S.
Gecz, J.
Lower, K.
Wright, M.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Journal of Pediatric Endocrinology and Metabolism, 2003; 16(9):1295-1300
Statement of Responsibility
Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, Wright M, Cheetham TD.
Conference Name
Abstract
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.