Clinical features and endocrine profile of Laron syndrome in Indian children

Autor: Supriya R Phanse-Gupte, Vaman V Khadilkar, Anuradha V Khadilkar
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Indian Journal of Endocrinology and Metabolism, Vol 18, Iss 6, Pp 863-867 (2014)
Druh dokumentu: article
ISSN: 2230-8210
2230-9500
DOI: 10.4103/2230-8210.140236
Popis: Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Results and Discussion: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (
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