Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.
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.
Birrell
G
G
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Lampe
A
A
Richmond
S
S
Bruce
S N
SN
Gécz
J
J
Lower
K
K
Wright
M
M
Cheetham
T D
TD
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D018389:Codon, Nonsense / Q000235:genetics; D003337:Corpus Callosum / Q000473:pathology; D003456:Cryptorchidism / Q000150:complications / Q000175:diagnosis; D004591:Electrophoresis, Polyacrylamide Gel / Q000295:instrumentation / Q000379:methods; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis; D015870:Gene Expression / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020249:Hormone Replacement Therapy / Q000379:methods; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications / Q000175:diagnosis; D007003:Hypoglycemia / Q000150:complications / Q000175:diagnosis; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities; D010826:Physiognomy; D010902:Pituitary Gland / Q000002:abnormalities / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency* / Q000235:genetics; D035781:Siblings; D013577:Syndrome
D018389:Codon, Nonsense; D010907:Pituitary Hormones