Polyendocrine-polyneuropathy syndrome (PEPNS) is a syndrome that involves gonadotropic axis deficiency, central hypothyroidism, peripheral demyelinating sensorimotor polyneuropathy, impaired intellectual development, and profound hypoglycemia, progressing to non-autoimmune insulin-dependent diabetes mellitus. It has been reported that haploinsufficiency of DMXL2 causes this syndrome. DMXL2 encodes the synaptic protein rabconnectin-3a, which is widely expressed in the brain and in the ends of the axons of neurons that produce gonadotropin-releasing hormone (GnRH).
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Polyneuropathy
8C01 Inflammatory polyneuropathy
H03047 Polyendocrine-polyneuropathy syndrome
