The spectrum of hypopituitarism caused by PROP1 mutations

Sushil Mody1, Milton R Brown2, John S Parks2
1Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, USA
2Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA

Tài liệu tham khảo

Sornson, 1996, Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism, Nature, 384, 327, 10.1038/384327a0 Wu, 1998, Mutations in PROP1 cause familial pituitary combined hormone deficiency, Nature Genetics, 18, 147, 10.1038/ng0298-147 Parks, 1999, Heritable disorders of pituitary development, Journal of Clinical Endocrinology and Metabolism, 84, 4362, 10.1210/jc.84.12.4362 Deladoey, 1999, ‘Hot spot’ in the PROP1 gene responsible for combined pituitary hormone deficiency, Journal of Clinical Endocrinology and Metabolism, 84, 1645, 10.1210/jc.84.5.1645 Fofanova, 1998, Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency, Journal of Clinical Endocrinology and Metabolism, 83, 2601, 10.1210/jc.83.7.2601 Vallette-Kasic, 2001, PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency, Journal of Clinical Endocrinology and Metabolism, 86, 4529, 10.1210/jc.86.9.4529 Osorio, 2000, Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP1, Journal of Clinical Endocrinology and Metabolism, 84, 50 Fluck, 1998, Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C), Journal of Clinical Endocrinology and Metabolism, 83, 3727, 10.1210/jc.83.10.3727 Pernasetti, 2000, Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene, Journal of Clinical Endocrinology and Metabolism, 85, 390, 10.1210/jc.85.1.390 Wit, 1992, Growth of infants with neonatal growth hormone deficiency, Archives of Disease in Childhood, 67, 920, 10.1136/adc.67.7.920 Karlberg, 1987, On the modeling of human growth, Statistics in Medicine, 6, 185, 10.1002/sim.4780060210 Pfaffle, 1992, Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia, Science, 257, 1118, 10.1126/science.257.5073.1118 Laron, 1993, Growth curves for Laron syndrome, Archives of Disease in Childhood, 68, 768, 10.1136/adc.68.6.768 Rosenbloom, 1997, Growth hormone insensitivity, Pediatric Clinics of North America, 44, 423, 10.1016/S0031-3955(05)70484-3 Mendonca, 1999, Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene, Journal of Clinical Endocrinology and Metabolism, 84, 942, 10.1210/jc.84.3.942 Parks, 1978, Familial hypopituitarism with large sella turcica, New England Journal of Medicine, 298, 698, 10.1056/NEJM197803302981302 Nogueira, 1999, Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene, Molecular Genetics and Metabolism, 67, 58, 10.1006/mgme.1999.2841 Goodman, 1968, Growth and growth hormone, New England Journal of Medicine, 278, 57, 10.1056/NEJM196801112780201 Cogan, 1998, The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency, Journal of Clinical Endocrinology and Metabolism, 83, 3346, 10.1210/jc.83.9.3346 Rosenbloom, 1999, Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene, Journal of Clinical Endocrinology and Metabolism, 84, 50, 10.1210/jc.84.1.50 Krzisnik, 1999, The ‘Little People’ of the Island of Krk – revisited etiology of hypopituitarism revealed, Journal Endocrine Genetics, 1, 9 Agarwal, 2000, Adrenocorticotropn deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion, Journal of Clinical Endocrinology and Metabolism, 85, 4556, 10.1210/jc.85.12.4556 Riepe, 2001, Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation, Journal of Clinical Endocrinology and Metabolism, 4353, 10.1210/jc.86.9.4353 Fofanova, 2000, MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations, American Journal of Roentgenology, 174, 555, 10.2214/ajr.174.2.1740555 Osorio, M, GF, Mendonca, B, B, Latronico, A, C, Proceedings of the 80th Annual Meeting of the Endocrine Society, 1998 P1–29 (abstract) Maghnie, 1991, Hypothalamic-pituitary dysfunction in growth hormone-deficient patients with pituitary abnormalities, Journal of Clinical Endocrinology and Metabolism, 73, 79, 10.1210/jcem-73-1-79 Nader, 1975, Familial dwarfism: case report, Postgraduate Medical Journal, 51, 676, 10.1136/pgmj.51.599.676 White, 1986, Familial hypopituitarism associated with an enlarged pituitary fossa and an empty sella, Clinical Endocrinology (Oxford), 24, 63, 10.1111/j.1365-2265.1986.tb03255.x Roux, 1982, Immunohistological study of the anterior pituitary gland-pars distalis and pars intermedia-in dwarf mice, Cell and Tissue Research, 223, 415, 10.1007/BF01258498 Netchine, 2000, Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency, Nature Genetics, 25, 182, 10.1038/76041 Bartke, 1964, Histology of the anterior hypophysis, thyroid and gonads of two types of dwarf mice, Anatomical Record, 149, 225, 10.1002/ar.1091490206 Nakamura, 1999, Prop-1 gene expression in human pituitary tumours, Journal of Clinical Endocrinology and Metabolism, 84, 2581, 10.1210/jc.84.7.2581 Cushman, 2001, Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumour susceptibility, Human Molecular Genetics, 10, 1141, 10.1093/hmg/10.11.1141