Laron syndrome: a case report

Abstract

Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. A 13-month-old, male child, born of second-degree consanguineous marriage presented with short stature (57 cm, below- 3 SD) with normal head size, mild motor developmental delay, micropenis and bone age of 9 months. Basal GH was 28.7 ng/ml (normal 1-13.6 ng/ml). IGF-1 was less than 20 ng/ml (normal up to 170 ng/ml). GH stimulation test done using clonidine revealed increased levels. Post stimulation levels at 30 min, 60 min, 90 min (ng/ml) were 29.3, 37.9, 29.3 respectively, which was suggestive of resistance to GH that is laron dwarfism. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1). This case is being reported for its rarity and early detection.

Laron syndrome – A perspective on diagnosis and management in India

“…Indian literature on LS is largely limited to clinical profiles and diagnosis. [4][5][6][7][8] The series of six cases presented by Rajalakshmi et al in this issue adds to the data on diagnosis from South India. [9] In a study by Desai et al in 1991, of the 430 children referred for short stature, 100 (23%) had GHD/GHI of which 89 were confirmed to have GHD on two stimulation tests.…”

Rare Case of Growth Hormone Insensitivity Syndrome Correlated With Hypothyroidism: A Case Report

“…According to these criteria, only four features point toward a diagnosis of GHIS. Diagnosis of GHIS is considered if a significant deficiency or impairment is detected in multiple parameters [ 10 ].…”