Primary growth hormone insensitivity and psychomotor delay

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 hormone insensitivity.

Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF-I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of ...

2 Growth Hormone Insensitivity Syndrome

Growth hormone insensitivity: Mexican case report

Herein, we present a 14-year-old patient with short stature (134 cm) referred from Paediatrics to our department for complementary evaluation since growth hormone (GH) treatment failed to show any improvement. He was born premature and small for gestational age. Genital examination classified the patient as Tanner I-II with small penis and testicular size for his age. Biochemical analyses revea...

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 ...