Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is inherited as an autosomal recessive trait.

Mendenhall syndrome None Rabson-Mendenhall syndrome is an extremely rare genetic disorder characterized by severe insulin resistance.

Rabson-Mendenhall syndrome is a rare insulin receptor disorder characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans.

As in leprechaunism, of which Rabson-Mendenhall syndrome represents less severe form, the condition is caused by molecular modification of both alleles of the insulin-receptor gene.

These include maturity onset diabetes of the young (MODY), Donohue syndrome, and Rabson-Mendenhall syndrome, among others.

Treatment of Rabson-Mendenhall syndrome with pharmacologic doses of human leptin may result in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.

Other mutations of the same gene cause the less severe Rabson-Mendenhall syndrome, in which patients have characteristically abnormal teeth, hypertrophic gingiva (gums), and enlargement of the pineal gland.

The condition most commonly associated with insulin resistance is type 2 diabetes mellitus, but is also a prominent feature of obesity, polycystic ovary syndrome, Donohue syndrome, and Rabson-Mendenhall syndrome.