Laron Syndrome
A Tale of Two Siblings
DOI:
https://doi.org/10.15605/jafes.038.02.22Keywords:
Growth hormone insensitivity, Laron syndrome, short stature, growth hormone deficiencyAbstract
Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.
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Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): The personal
experience 1958-2003. J Clin Endocrinol Metab. 2004; 89(3):1031-44. https://pubmed.ncbi.nlm.nih.gov/15001582. https://doi.org/10.1210/jc.2003-031033.
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Copyright (c) 2023 Niladri Das, Silima Subhasnigdha Tarenia, Souvik Saha, Prashant Manohar Gaikwad, Deep Kamlesh Hathi, Soumik Goswami, Arjun Baidya, Nilanjan Sengupta
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