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Type: Journal article
Title: Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Author: Birrell, G.
Lampe, A.
Richmond, S.
Bruce, S.
Gecz, J.
Lower, K.
Wright, M.
Citation: Journal of Pediatric Endocrinology and Metabolism, 2003; 16(9):1295-1300
Publisher: Freund Publishing House Ltd
Issue Date: 2003
ISSN: 0334-018X
Statement of
Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, Wright M, Cheetham TD.
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.
Keywords: Pituitary Gland
Corpus Callosum
Optic Nerve
Eye Abnormalities
Abnormalities, Multiple
Genetic Diseases, X-Linked
Pituitary Hormones
Codon, Nonsense
Magnetic Resonance Imaging
Hormone Replacement Therapy
Electrophoresis, Polyacrylamide Gel
Gene Expression
Genes, Recessive
Infant, Newborn
Agenesis of Corpus Callosum
DOI: 10.1515/jpem.2003.16.9.1295
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Appears in Collections:Aurora harvest 6
Paediatrics publications

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