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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 & 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; Humans; Eye Abnormalities; Cryptorchidism; Abnormalities, Multiple; Genetic Diseases, X-Linked; Hypoglycemia; Hyperbilirubinemia; Syndrome; Pituitary Hormones; Codon, Nonsense; Magnetic Resonance Imaging; Hormone Replacement Therapy; Electrophoresis, Polyacrylamide Gel; Physiognomy; Siblings; Gene Expression; Genes, Recessive; Infant, Newborn; Male; Agenesis of Corpus Callosum
RMID: 0020031412
DOI: 10.1515/jpem.2003.16.9.1295
Appears in Collections:Paediatrics publications

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