Severe Inherited Insulin Resistance

Insulin-resistance syndrome type A

Severe insulin resistance with acanthosis nigricans and high androgens, usually recognised in adolescent girls and sometimes resembling polycystic ovary syndrome.

Donohue syndrome

Autoszomális recesszív

The most severe form of insulin receptor deficiency, with growth restriction and extreme insulin resistance from birth.

Rabson-Mendenhall syndrome

Autoszomális recesszív

Severe insulin resistance from childhood with growth, dental and skin features, caused by variants in both copies of INSR.

Hypoinsulinaemic hypoglycaemia with body hemihypertrophy

Autoszomális domináns

Low blood sugar with low insulin and uneven body growth, caused by activating AKT2 variants.