ESPE Yearbook of Paediatric Endocrinology

Cochrane Database Syst Rev, 2021. 10: p. CD004447 PMID: 34618915Brief Summary: This systematic review examined the effects of rhGH treatment in children with X-linked hypophosphatemia. Despite a significant improvement in height SDS from baseline, evidence from the 2 identified studies was limited to support its clinical use in these patients.X-linked hypophosphatemia (XLH) is an inherited disorder of phosphate homeostasis...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...