An unusual cause of short stature-Laron syndrome
DOI:
https://doi.org/10.18203/2349-3933.ijam20161106Keywords:
Growth hormone, Growth hormone receptor, Growth hormone receptor insensitivity, Laron syndromeAbstract
Laron syndrome is an autosomal recessive disorder characterized by an insensitivity to growth hormone (GH), caused by a variant of the growth hormone receptor. 15 month old, male child, born of third degree consanguineous marriage presented with short stature (57 cm, below the 3rd centile) with normal head size, mild developmental delay, undescended testis and micropenis. Normal thyroid profile, serum cortisol was normal and bone age of 1 year. MRI brain showed small sized pituitary. Random growth hormone was 21.4 ng/ml (normal more than 10 ng/ml), IGF-1 level less than 25 ( normal: upto70 micro/L), IGF-1 generation test with pre-test IGF-1 levels less than 25 and post-test less than 25 which was suggestive of resistance to growth hormone or growth hormone insensitivity that is Laron dwarfism. Parents were counselled about the possible outcome and prognosis. In conclusion for the diagnosis of growth hormone insensitivity a high index of suspicion and the important functional test is insulin-like growth factor 1 generation test. Currently only treatment is daily administration of insulin-like growth factor-1from early childhood.
References
Guleria S, Sharma J, Kaushik SL. Laron syndrome. J Postgrad Med. 2014;60(3):322-3.
Kornreich L, Konen O, Lilos P, Laron Z. The Globe and Orbit in Laron Syndrome. AJNR Am J Neuroradiol. 2011;32(8):1560-2.
Ranke MB, Savage MO, Chatelain PG, Preece MA, Rosenfelde RG, Wilton P. Long-Term Treatment of Growth Hormone Insensitivity Syndrome with IGF-I. Horm Res. 1999;51(3):128-34.
Phanse-Gupte SR, Khadilkar VV, Khadilkar AV. Clinical features and endocrine profile of Laron syndrome in Indian children. Indian J Endocrinol Metab. 2014;18(6):863-8.
Latrech H, Simon A, Beltrand J, Souberbielle JC, Belmejdoub G, Polak M. Postprandialhyperglycemia corrected by IGF-I (Increlex®) in Laron syndrome. Horm Res Paediatr. 2012;78(3):193-200.
Kliegman R, Stanton B, Schor NW. St Geme J, Behrman E eds. Nelson Textbook of Pediatrics, 20th Edition, Elsevier. 2015;2635-44.
Coutant R, Dörr HG, Gleeson H, Argente J. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012;166(3):351-7.
Puche JE, Castilla-cortázar I. Human conditions of insulin-like growth factor-I (IGF-I ) deficiency. J Transl Med. 2012;10:224.
Desai MP, Colaco P. Growth hormone deficiency and insensitivity. In: Desai MP, Menon PSN, Bhatia V, editors. Pediatric Endocrine Disorders. Chennai: university press (India) private Ltd. 2014: 81-97 .
Wu Y, Sun H, Basta-pljakic J, Cardoso L, Kennedy OD, Jasper H et al. Serum IGF-1 is insufficient to restore skeletal size in the total absence of the growth hormone receptor. J Bone Miner Res. 2013;28(7):1575-86.
Laron Z. The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. Hormones (Athens). 2008;7(1):24-7.
Laron Z. Growth Hormone Insensitivity (Laron Syndrome). Rev Endocr Metab Disord. 2002;3(4):347-55.
Steuerman R, Shevah O, Laron Z. Congenital IGF1 deficiency tends to confer protection against post-natal development of malignancies. Eur J Endocrinol. 2011;164(4):485-9.
Ungvari Z, Csiszar A. The Emerging Role of IGF-1 deficiency in cardiovascular aging : recent advances. J Gerontol A Biol Sci Med Sci. 2012;67(6):599-610.
