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.
Recurrent hypoglycemia in childhood may be caused by various endocrine or metabolic disorders, of which growth hormone deficiency is a rare cause. A 5-year-old girl presented to us with short stature and recurrent episodes of hypoglycemic seizures. On evaluating for the same, critical sample showed normal cortisol and low c-peptide levels. Neuroimaging ruled out pituitary anomalies. Growth hormone deficiency was diagnosed after GH stimulation test (with clonidine and insulin) revealed low basal and post-stimulation values. Following GH supplementation, no further hypoglycemia was noted. This rare case is being reported to highlight the importance of treating the underlying etiology of hypoglycemia to prevent adverse neurological outcome.
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