Conditions / Syndrome
proprotein convertase 1/3 deficiency
info · Syndrome
A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chro
A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.
Signs and symptoms
- Hypogonadotropic hypogonadism
- Decreased circulating cortisol level
- Hypoinsulinemia
- Elevated circulating proinsulin concentration
- Obesity
- Diarrhea
- Malabsorption
- Reactive hypoglycemia
- Villous atrophy
- Primary amenorrhea
Also known as: PCI deficiency; obesity and endocrinopathy due to impaired processing of prohormones; obesity due to prohormone convertase I deficiency; obesity with impaired prohormone processing