C (p.I544L) mutasyon ve iki kardeşte c.1419 C>T (p.S473S) polimorfizmi, 1 olguda c.1681 C>A (p.P561T) homozigot mutasyonu, 1 olguda c.629 T>G (p.V210G) ve c.1567 A>C (p.I526L) bileşik heterozigot mutasyonu saptandı. Sonuç olarak, Laron sendrom'lu bu olgularda rekombinant IGF-1 tedavisine yeterli klinik yanıt olmadığı gösterildi. Laron Syndrome is defined as primary growth hormone resistance or insensitivity. Our aim is to discuss the clinical,laboratory findings and growth hormone receptor gene mutation analysis of the Laron Syndrome cases.5 patients'(two girls, 3 boys) pretreatment height standard deviation score (SDS), annual growth rates, growth hormone, and IGF-1, IGFBP3 levels , age at initial treatment age, and also the height SDS, and annual growth rates, at first, second, and third years of the treatment, the doses of the targeted drugs which can be used were evaluated to find the effectiveness of the treatment.Growth hormone receptor gene mutations were evaluated. The mean age was 3.0±2.7 years, height SDS was -5.06±0.7 and target height SDS was -0.72±0.95. Pretreatment annual growth rate was 3.5±1.7 cm (1.8-6.0). Baseline growth hormone levels were over 40 pg/ml in all patients. Mean baseline IGF, mean IGF response to IGF generation test values were 9.7±9.9 ng/ml, and 10.7±9.8 ng/ml, respectively. Due to the difficulties to get the recombinant IGF treatmen, we could start the therapy at the mean age of 4.06±2.6 years. Usually the doses of the drugs used per year were under the targeted doses for the patients. The average annual growth rates were 3.73 cm/year, 4,24 cm/year, 3,55 cm/year, at 1st, second and third years, respectivelly. Growth hormone receptor gene analysis revealed homozygote missense c.1630 A>C(p.I544L) mutation in one patient and; c.1419 C>T(p.S473S) polymorphism in two siblings and c.1681 C>A(p.P561T) homozygous mutation in one patient, c.629 T>G(p.V210G) ve c.1567 A>C(p.I526L) compound heterozygous mutation in one patient. As a result, it has been demonstrated that cases with Laron syndrome patients do not give adequate clinical response to recombinant IGF treatment."> [PDF] Laron sendromlu 5 olgu: Klinik ve moleküler değerlendirme | [PDF] Five cases with Laron syndrome: Clinical and molecular evaluation C (p.I544L) mutasyon ve iki kardeşte c.1419 C>T (p.S473S) polimorfizmi, 1 olguda c.1681 C>A (p.P561T) homozigot mutasyonu, 1 olguda c.629 T>G (p.V210G) ve c.1567 A>C (p.I526L) bileşik heterozigot mutasyonu saptandı. Sonuç olarak, Laron sendrom'lu bu olgularda rekombinant IGF-1 tedavisine yeterli klinik yanıt olmadığı gösterildi."> C (p.I544L) mutasyon ve iki kardeşte c.1419 C>T (p.S473S) polimorfizmi, 1 olguda c.1681 C>A (p.P561T) homozigot mutasyonu, 1 olguda c.629 T>G (p.V210G) ve c.1567 A>C (p.I526L) bileşik heterozigot mutasyonu saptandı. Sonuç olarak, Laron sendrom'lu bu olgularda rekombinant IGF-1 tedavisine yeterli klinik yanıt olmadığı gösterildi. Laron Syndrome is defined as primary growth hormone resistance or insensitivity. Our aim is to discuss the clinical,laboratory findings and growth hormone receptor gene mutation analysis of the Laron Syndrome cases.5 patients'(two girls, 3 boys) pretreatment height standard deviation score (SDS), annual growth rates, growth hormone, and IGF-1, IGFBP3 levels , age at initial treatment age, and also the height SDS, and annual growth rates, at first, second, and third years of the treatment, the doses of the targeted drugs which can be used were evaluated to find the effectiveness of the treatment.Growth hormone receptor gene mutations were evaluated. The mean age was 3.0±2.7 years, height SDS was -5.06±0.7 and target height SDS was -0.72±0.95. Pretreatment annual growth rate was 3.5±1.7 cm (1.8-6.0). Baseline growth hormone levels were over 40 pg/ml in all patients. Mean baseline IGF, mean IGF response to IGF generation test values were 9.7±9.9 ng/ml, and 10.7±9.8 ng/ml, respectively. Due to the difficulties to get the recombinant IGF treatmen, we could start the therapy at the mean age of 4.06±2.6 years. Usually the doses of the drugs used per year were under the targeted doses for the patients. The average annual growth rates were 3.73 cm/year, 4,24 cm/year, 3,55 cm/year, at 1st, second and third years, respectivelly. Growth hormone receptor gene analysis revealed homozygote missense c.1630 A>C(p.I544L) mutation in one patient and; c.1419 C>T(p.S473S) polymorphism in two siblings and c.1681 C>A(p.P561T) homozygous mutation in one patient, c.629 T>G(p.V210G) ve c.1567 A>C(p.I526L) compound heterozygous mutation in one patient. As a result, it has been demonstrated that cases with Laron syndrome patients do not give adequate clinical response to recombinant IGF treatment.">

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