A Case with Laron Syndrome

Key Findings & Data:In this article, a patient with LS is reported.A 2-year-old female patient was admitted to the hospital with the complaint of short stature.

💡

Conclusion & Impact:Her height and weight was 71.7 cm [

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH and low insulin-like growth factor-I (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported.A 2-year-old female patient was admitted to the hospital with the complaint of short stature. Her height and weight was 71.7 cm [

Özet

Laron sendromu (LS), büyüme hormonu duyarsızlığının bir sonucu olarak kısa boya yol açan nadir bir hastalıktır. Büyüme hormonu reseptör genindeki mutasyonlardan kaynaklanır ve doğum sonrası gelişme geriliği, kraniofasial anormallikler, yüksek serum büyüme hormonu (GH) ve düşük insülin benzeri büyüme faktörü-I (IGF-1) seviyeleri ile karakterize edilir. Bugüne kadar birçok farklı genetik mutasyonu belgelenmiştir. Bu yazıda Laron sendromlu bir hasta bildirilmiştir. İki yaşında kız hasta boy kısalığı şikayetiyle tarafımıza başvurdu. Boyu ve ağırlığı sırasıyla 71.7 cm (

🔖

Cite This Article

KUTLU, E., YEŞİL, G., CESUR, Y., ÖZGEN, İ. T. (2022). A Case with Laron Syndrome. Bezmiâlem Science, Cilt: 7 - Sayı: 3, 251–254. https://ajindex.com/articles/464100

📄 Full Text PDF Viewer

Open in New Tab ↗

↗New Tab

📄

PDF görüntüleyici hazırlanıyor...

References (10)

Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentration of growth hormone-a new inborn error of metabolism? Isr J Med Sci 1966;2:152-5.
Laron Z, Lilos P, Klinger B: Growth curves for Laron syndrome. Arch Dis Child 1993;68:768-70.
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hubner C, Clark AJ et al. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev 2011;32:472-97.
Laron Z, Lilos P, Klinger B. Growth curves for Laron syndrome. Arch Dis Child 1993;68:768-70.
Laron Z, Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab 2004;89:1031-44.
Rosenbloom AL, Guevara Aguirre J, Rosenfeld RG, Fiedler PJ. The little women of Loja-- growth hormone-receptor deficiency in an inbred population of southern Ecuador. N Engl J Med 1990;323:1367-74.
Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16:13-4.
Chernausek SD, Backeljauw PF, Frane J, Kuntze J, Underwood LE, GH Insensitivity Syndrome Collaborative Group: Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensitivity. J Clin Endocrinol Metab 2007;3:902-10.
Guevara-Aguirre J, Rosenbloom AL, Vasconez O, Martinez V, Gargosky SE, Allen L et al. Two-year treatment of growth hormone (GH) receptor deficiency with recombinant insulin-like growth factor I in 22 children: comparison of two dosage levels and to GH-treated GH deficiency. J Clin Endocrinol Metab 1997;82:629-33.
Ranke MB, Savage MO, Chatelain PG, Preece MA, Rosenfeld RG, Wilton P. Long-term treatment of growth hormone insensitivity syndrome with IGF-I. Results of the European Multicentre Study. The Working Group on Growth Hormone Insensitivity Syndromes. Horm Res 1999;51:128-34. Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC. Growth hormone insensivity syndrome caused by a heterozygous GHR mutation: Phenotypic variability owing to moderation by nonsense-mediated decay. Clin Endocrinol (Oxf) 2012 May;76:706-12.