Adelaide Research & Scholarship
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https://hdl.handle.net/2440/36335
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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 2191-0251 |
| Statement of Responsibility: | 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 |
| DOI: | 10.1515/jpem.2003.16.9.1295 |
| Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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