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Published on: December 17, 2010
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
G Birrell1, A Lampe, S Richmond
1Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
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.
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