Abstract
Here by presenting, a case of familial short stature where in 2 siblings presented with failure to gain height. Similar history was present in maternal uncle. They had no history of peri/ intra / post-natal complications. They had normal developmental milestones and had normal scholastic performance. On examination there were no other syndromic features. Height was - 6 SDS and weight was below 5 centiles. Upper to lower segment ratio was preserved. SMR was Prepubertal. Systemic examination was unremarkable. On evaluation, IGF 1 levels were low. Dynamic pituitary testing for growth hormone deficiency failed to stimulate growth hormone. Pituitary Imaging with contrast MRI showed hypoplastic pituitary. In view of both siblings having short stature and similar history in maternal uncle, a whole exome sequencing was done, which showed homozygous mutation for Growth hormone releasing hormone receptor, Exon 3, c.214G>T (p. Glu72Ter). Thus, the diagnosis was confirmed as isolated growth hormone deficiency type 4.
Published Version
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