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Laron syndrome (OMIM#262500): the Israeli cohort 60 years’ experience

Published on April 30, 2023   28 min

A selection of talks on Genetics & Epigenetics

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0:00
In this lecture, I will tell you about the discovery, the etiology, and the critical aspects of what is called Laron Syndrome (LS). My experience is about 60 years, as I will show you.
0:22
In 1958, at a time when no assay from human growth hormone was available, three siblings, aged three, one and a newborn baby, were referred to me. Two of those are shown on the left panel. They belong to a consanguineous Jewish family of the Yemenite origin, seen in the right panel. Five older siblings were of normal stature.
0:54
Their appearance was dwarfism, obesity, acromicria, hypogenitalism, and severe hypoglycemia, which resembled children with pituitary isolated growth hormone deficiency. When comparing the gender, one who is LS on the left side, with a same aged boy with isolated growth hormone deficiency, we see their great resemblance. However, they are smaller than the patient with growth hormone deficiency, denoting already the lack of efficiency of this hormone.
1:37
In the early 1960s, when radioimmunoassays for growth hormone became available, we found to our great surprise that the circulating hGH was very high reaching acromegalic levels, as seen in the left, up to 140 ng/ml. On the right, we see the night secretion of growth hormone with very high peaks in the LS patients as compared to a normal control of the same age, in the lower side.

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Laron syndrome (OMIM#262500): the Israeli cohort 60 years’ experience

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