Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency

J Pediatr Endocrinol Metab. 2003 Dec;16(9):1295-300. doi: 10.1515/jpem.2003.16.9.1295.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Codon, Nonsense / genetics
  • Corpus Callosum / pathology
  • Cryptorchidism / complications
  • Cryptorchidism / diagnosis
  • Electrophoresis, Polyacrylamide Gel / instrumentation
  • Electrophoresis, Polyacrylamide Gel / methods
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnosis
  • Gene Expression / genetics
  • Genes, Recessive / genetics
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Hormone Replacement Therapy / methods
  • Humans
  • Hyperbilirubinemia / complications
  • Hyperbilirubinemia / diagnosis
  • Hypoglycemia / complications
  • Hypoglycemia / diagnosis
  • Infant, Newborn
  • Magnetic Resonance Imaging / methods
  • Male
  • Optic Nerve / abnormalities
  • Physiognomy
  • Pituitary Gland / abnormalities
  • Pituitary Gland / pathology
  • Pituitary Hormones / deficiency*
  • Pituitary Hormones / genetics
  • Siblings
  • Syndrome

Substances

  • Codon, Nonsense
  • Pituitary Hormones