Craniofacial and brain abnormalities in Laron syndrome (primary growth hormone insensitivity)

Craniofacial and brain abnormalities in Laron syndrome (primary growth hormone insensitivity).

OBJECTIVE To investigate abnormalities in the craniofacial structures and in the brain in patients with Laron syndrome. DESIGN Eleven patients with classical Laron syndrome, nine untreated adults aged 36-68 years and two children aged 4 and 9 years (the latter treated by IGF-I), were studied. METHODS Magnetic resonance images of the brain were obtained in all the patients. One patient also ...

Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report

INTRODUCTION Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormon...

2 Growth Hormone Insensitivity Syndrome

Primary growth hormone insensitivity and psychomotor delay

We report a case of short stature irresponsive to growth hormone (GH) replacement therapy. Low GH response to provocative tests and undetectable IGF-1 levels had suggested GH deficiency, while response to therapy indicated GH insensitivity. Molecular evaluation of the GH/IGF-1 axis should be performed in these cases to improve diagnosis and therapy.

Growth curves for Laron syndrome.

Growth curves for children with Laron syndrome were constructed on the basis of repeated measurements made throughout infancy, childhood, and puberty in 24 (10 boys, 14 girls) of the 41 patients with this syndrome investigated in our clinic. Growth retardation was already noted at birth, the birth length ranging from 42 to 46 cm in the 12/20 available measurements. The postnatal growth curves d...