An unusual cause of short stature-Laron syndrome

Abstract

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 3 rd 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 posttest 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.

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.…”

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family

“…Laron syndrome (LS, MIM 262500), a very rare type of short stature, is caused by mutation in growth hormone receptor ( GHR) and has a prevalence of 1-9/1000000 [ 9 ]. An estimated 350 patients with Laron syndrome (LS) have been reported in the medical literature, with geographic aggregation of this anomaly in few regions.…”