Laron syndrome- A rare cause of short stature
Case report•
6.4 year old girl with normal birth weight (2.4Kg) born of non consanguinous
marriage with breech presentation came to us with extremely short stature
noticed since 2 years of age. Her weight (7kg; Z score -3.4) and Height
(70.4cm; Z score -7.5) both were very much below 3 rd centile. Her
midparental height was (142.5+5).She did not have any systemic complaints.
She had small hands and feet with characteristic midfacial hypoplasia, truncal
obesity, and infantile facies. Bone age was less than 2 years, Growth
hormone stimulation test showed growth hormone resistance.(Growth
hormone Basal- 14.12 ng/ml, 1 hr- 22.17 ng/ml and 2 hr-15.82 ng/ml) her
IGF-1 was low 42(53-316) for her age. MRI brain showed small anterior
pitutary gland with volume of 0.07 cc. to confirm the diagnosis of growth
hormone insensitivity we performed IGF-1 generation test which Less than 2
fold rise in serum IGF-1 and proved the diagnosis of Laron syndrome or
growth hormone insensitivity. Child had satisfied 4 out of 6 criteria as per
Martin Savage criteria for diagnosis of Laron syndrome.( IGF BP-3 was not
done and GHBP is not done in India) child was advised to start with
recombinant IGF-1 (40-80 microgram/kg/dose twice daily subcutaneous
injection).However procurement of Injection IGF-1 was difficult due to
technical difficulties and financial constraints.
•
Key words-growth hormone, IGF-1, Laron syndrome, IGF generation test.
Fig-1 Clinical image of child showing short stature midfacial hypoplasia and infantile
facies
Fig-2 growth chart of child showing height and weight much below 3 rd centile