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Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency

Lookup NU author(s): Dr Anne Lampe, Professor Timothy Cheetham


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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.

Publication metadata

Author(s): Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M, Cheetham TD

Publication type: Article

Publication status: Published

Journal: Journal of Pediatric Endocrinology and Metabolism

Year: 2003

Volume: 16

Issue: 9

Pages: 1295-1300

Print publication date: 01/01/2003

ISSN (print): 0334-018X

ISSN (electronic): 2191-0251

Publisher: Walter de Gruyter

PubMed id: 14714754