Laron syndrome: typical and atypical forms

Alcaniz, 1978, GH secretion in two siblings with Laron's dwarfism: The effects of glucose, arginine, somatostatin and bromocriptine, Journal of Clinical Endocrinology and Metabolism, 47, 453, 10.1210/jcem-47-2-453 Amselem, 1989, Laron dwarfism and mutations of the growth hormone receptor gene, New England Journal of Medicine, 321, 989, 10.1056/NEJM198910123211501 Bala, 1973, Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism, Canadian Journal of Physiology and Pharmacology, 91, 845, 10.1139/y73-129 Baumann, 1986, A specific growth hormone-binding protein in human plasma: Initial characterisation, Journal of Clinical Endocrinology and Metabolism, 62, 134, 10.1210/jcem-62-1-134 Baumann, 1987, Absence of plasma growth hormone-binding protein in Laron-type dwarfism, Journal of Clinical Endocrinology and Metabolism, 65, 814, 10.1210/jcem-65-4-814 Baumbach, 1989, The growth hormone-binding protein in rat serum is an alternatively spliced form of the rat growth hormone receptor, Genes and Development, 3, 1199, 10.1101/gad.3.8.1199 Baxter, 1990, Circulating levels and molecular distribution of the acid-labile subunit of the high molecular weight insulin-like growth factor-binding protein complex, Journal of Clinical Endocrinology and Metabolism, 70, 1347, 10.1210/jcem-70-5-1347 Berg, 1992, Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome, Human Mutation, 1, 24, 10.1002/humu.1380010105 Blum, 1990, A specific radioimmunoassay for the growth hormone (GH)-dependent somatomedin binding protein: Its use for diagnosis of GH deficiency, Journal of Clinical Endocrinology and Metabolism, 70, 1292, 10.1210/jcem-70-5-1292 Blum, 1992, Insulin-like growth factors and their binding proteins in patients with growth hormone receptor deficiency; Suggestions for new diagnostic criteria, Acta Paediatrica, 383, 125 Blum, 1994, Improvement of diagnostic criteria in growth hormone insensitivity syndrome: Solutions and pitfalls, Acta Paediatrica Scandinavica, 399, 117, 10.1111/j.1651-2227.1994.tb13303.x Clemmons, 1984, Factors controlling blood concentration of somatomedin C, Journal of Clinical Endocrinology and Metabolism, 13, 113, 10.1016/S0300-595X(84)80011-0 Cohen, 1991, Clinical aspects of insulin-like growth factor binding proteins, Acta Endocrinologica, 124, 74 Cotterill, 1991, Regulation of growth hormone secretion in patients with growth hormone insensitivity, Acta Paediatrica Scandinavica, 377, 92, 10.1111/apa.1991.80.s377.92 Cotterill, 1992, The insulin-like growth factor binding proteins and insulin-like growth factor bioactivity in Laron-type dwarfism, Journal of Clinical Endocrinology and Metabolism, 74, 56, 10.1210/jc.74.1.56 Cotterill, 1993, The effect of recombinant human insulin-like growth factor-I treatment on growth hormone secretion in two subjects with growth hormone insensitivity (Laron syndrome), Clinical Endocrinology, 39, 119, 10.1111/j.1365-2265.1993.tb01761.x Daughaday, 1987, Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism), 84, 4636 Duquesnoy, 1994, A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization, EMBO Journal, 13, 1386, 10.1002/j.1460-2075.1994.tb06392.x Elders, 1973, Laron's dwarfism: studies on the nature of the defect, Journal of Pediatrics, 83, 253, 10.1016/S0022-3476(73)80485-8 Eshet, 1973, Immunoreactive properties of the plasma hGH from patients with the syndrome of familial dwarfism and high plasma IR-hGH, Journal of Clinical Endocrinology and Metabolism, 337, 819, 10.1210/jcem-37-5-819 Eshet, 1984, Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism, Israeli Journal of Medical Science, 20, 8 Frankell, 1968, Psychological aspects of pituitary insufficiency in children and adolescents with particular reference to growth hormone, Israeli Journal of Medical Science, 4, 953 Gargosky, 1994, Effects of insulin-like growth factor-1 treatment on the molecular distribution of insulin-like growth factors among binding proteins, Acta Paediatrica, 399, 159, 10.1111/j.1651-2227.1994.tb13316.x Godowski, 1989, Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism, 86, 8083 Golde, 1980, Peripheral unresponsiveness to human growth hormone in Laron dwarfism, New England Journal of Medicine, 303, 1156, 10.1056/NEJM198011133032006 Gourmelen, 1991, Effects of exogenous insulin-like growth factor I on insulin-like growth factor binding proteins in a case of growth hormone insensitivity (Larontype), Acta Paediatrica Scandinavica, 377, 115, 10.1111/apa.1991.80.s377.115 Guevara-Aguirre, 1993, Psychosocial adaptation of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome, 61 Guevara-Aguirre, 1991, Osteopenia in menstruating women with low IGF-I levels due to growth hormone receptor deficiency, 385 Guevara-Aguirre, 1993, Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations, Journal of Clinical Endocrinology and Metabolism, 76, 417, 10.1210/jc.76.2.417 Guevara-Aguirre, 1995, A randomized, double blind, placebo controlled trial on safety and efficacy of recombinant human insulin-like growth factor-1 in children with growth hormone receptor deficiency, Journal of Clinical Endocrinology and Metabolism, 80, 1393, 10.1210/jc.80.4.1393 Hall, 1989 Hardouin, 1989, Molecular forms of serum insulin-like growth factor (IGF)-binding proteins in man: Relationships with growth hormone and IGFs and physiological significance, Journal of Clinical Endocrinology and Metabolism, 69, 1291, 10.1210/jcem-69-6-1291 Herington, 1986, Identification and characterization of specific binding proteins for growth hormone in normal human sera, Journal of Clinical Investigation, 77, 1817, 10.1172/JCI112507 Herington, 1986, Affinity purification and structural characterisation of a specific binding protein for human growth hormone in human serum, Biochemical and Biophysical Research Communications, 139, 150, 10.1016/S0006-291X(86)80092-4 Jacobs, 1976, Receptoractive growth hormone in Laron dwarfism, Journal of Clinical Endocrinology and Metabolism, 42, 403, 10.1210/jcem-42-2-403 Jansen, 1983, Sequence of cDNA encoding human insulin-like growth factor I precursor, Nature, 306, 609, 10.1038/306609a0 Keret, 1988, Growth hormone (hGH) secretion and turnover in three patients with Laron-type dwarfism, Israeli Journal of Medical Science, 24, 75 Laron, 1984, Laron-type dwarfism (hereditary somatomedin deficiency): A review, 117 Laron, 1966, Genetic pituitary dwarfism with high serum concentration of growth hormone—a new inborn error of metabolism?, Israeli Journal of Medical Science, 2, 152 Laron, 1971, Administration of growth hormone to patients with familial dwarfism with high plasma immunoreactive growth hormone: Measurement of sulfation factor, metabolic and linear growth responses, Journal of Clinical Endocrinology and Metabolism, 33, 332, 10.1210/jcem-33-2-332 Laron, 1980, Puberty in Laron type dwarfism, European Journal of Pediatrics, 134, 79, 10.1007/BF00442408 Laron, 1992, Effects of insulin-like growth factor-1 on linear growth, head circumference, and body fat in patients with Laron-type dwarfism, Lancet, 339, 1258, 10.1016/0140-6736(92)91594-X Laron, 1992, IGF binding protein 3 in patients with Laron type dwarfism: Effect of exogenous r1GF-I, Clinical Endocrinology, 36, 301, 10.1111/j.1365-2265.1992.tb01449.x Laron, 1993, Growth curves for Laron syndrome, Archives of Disease in Childhood, 68, 768, 10.1136/adc.68.6.768 Leonard, 1994, Effects of recombinant insulin-like growth factor I on craniofacial morphology in growth hormone insensitivity, Acta Paediatrica, 399, 140, 10.1111/j.1651-2227.1994.tb13308.x Leonard, 1995, Cranio-facial proportions in Laron syndrome: Relationship with stature and severity of growth hormone resistance, Hormone Research, 44, 26 Leung, 1987, Growth hormone receptor and serum binding protein: Purification, cloning and expression, Nature, 330, 537, 10.1038/330537a0 Meacham, 1993, Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome, Journal of Clinical Endocrinology and Metabolism, 77, 1379, 10.1210/jc.77.5.1379 Menashe, 1991, Spontaneous pregnancies in two women with Laron-type dwarfism: Are growth hormone and circulating insulin-like growth factor mandatory for induction of ovulation?, Human Reproduction, 6, 670, 10.1093/oxfordjournals.humrep.a137403 Mercado, 1993, Growth hormone-binding protein determination in plasma: A comparison of immunofunctional and growth hormone-binding assays, Journal of Clinical Endocrinology and Metabolism, 76, 1291, 10.1210/jc.76.5.1291 Najjar, 1971, Dwarfism with elevated levels of plasma growth hormone, New England Journal of Medicine, 284, 809, 10.1056/NEJM197104152841502 New, 1972, Pseudohypopituitary dwarfism with normal plasma growth hormone and low serum sulfation factor, Journal of Pediatrics, 80, 620, 10.1016/S0022-3476(72)80059-3 Ranke, 1991, Clinical relevance of serum measurements of insulin-like growth factors and somatomedin binding proteins, Acta Paediatrica Scandinavica, 347, 114 Ranke, 1995, Insulin-like growth factor (IGF)-I improves height in growth hormone insensitivity, Hormone Research, 10.1159/000184637 Rosenbloom, 1990, The little women of Loja-growth hormone receptor deficiency in an inbred population of Southern Ecuador, New England Journal of Medicine, 323, 1367, 10.1056/NEJM199011153232002 Rosenbloom, 1992, Clinical phenotype and biochemical characteristics of growth hormone receptor deficiency (Laron syndrome), Acta Paediatrica Scandinavica, 383, 117 Rosenfeld, 1981, Constancy of somatomedin response to growth hormone treatment of hypopituitary dwarfism, and lack of correlation with growth rate, Journal of Clinical Endocrinology and Metabolism, 53, 611, 10.1210/jcem-53-3-611 Rosenfeld, 1994, Growth hormone (GH) insensitivity due to primary GH receptor deficiency, Endocrine Reviews, 15, 369, 10.1210/edrv-15-3-369 Sarnat, 1988, Comparison of dental findings in patients with isolated growth hormone deficiency treated with human growth hormone (hGH) and in untreated patients with Laron-type dwarfism, Oral Surgery, Oral Medicine and Oral Pathology, 66, 581, 10.1016/0030-4220(88)90379-9 Savage, 1993, Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome), Journal of Clinical Endocrinology and Metabolism, 77, 1465, 10.1210/jc.77.6.1465 Savage, 1995, Growth hormone insensitivity syndromes, Acta Paediatrica, 411, 87, 10.1111/j.1651-2227.1995.tb13871.x Smith, 1989, Mouse serum growth hormone (GH) binding protein has growth hormone receptor extracellular and substituted transmembrane domains, Molecular Endocrinology, 3, 984, 10.1210/mend-3-6-984 Trivedi, 1988, Release of growth hormone binding protein from IM-9 lymphocytes by endopeptidase is dependant on sulfhydryl group inactivation, Endocrinology, 123, 2201, 10.1210/endo-123-5-2201 Van den Brande, 1974, Primary somatomedin deficiency: Case report, Archives of Disease in Childhood, 49, 297, 10.1136/adc.49.4.297 Walker, 1992, Stimulation of statural growth by recombinant insulin-like growth factor-I in a child with growth hormone insensitivity syndrome (Laron-type), Journal of Pediatrics, 121, 641, 10.1016/S0022-3476(05)81163-1 Wilson, 1993, Long term effects of IGF-I therapy on the IGFIGFBP axis in growth hormone receptor deficiency (GHRD), 1599A Wilton, 1992, Treatment with recombinant insulin-like growth factor-I of children with growth hormone receptor deficiency (Laron syndrome), Acta Paediatrica Scandinavica, 282, 137 Woods, 1995, Molecular studies in Laron syndrome patients with normal growth hormone binding protein Zapf, 1989, Recombinant human insulin-like growth factor induces its own specific carrier protein in hypophysectomized and diabetic rats, 86, 3813