IMPE Abstracts

Objective: To evaluate the long-term safety and effectiveness of daily growth hormone (Norditropin®; somatropin) in Japanese children with short stature due to Noonan syndrome (NS).Methods: This post-marketing, prospective, non-interventional, Japanese multicentre study (NCT03435627) was conducted in a real-world setting from February 2018 to April 2022. Among the 70 enrolled patients, 35 received Norditropin® on...

Background: Congenital adrenal hyperplasia (CAH) is due to defects of steroid synthetic enzymes, which includes microsomal and mitochondrial P450s. P450 enzymes need coenzymes respectively. Microsomal P450s include 21-hydroxylase need P450 oxidoreductase which coded by POR. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and ove...

Tolvaptan, a V2-receptor antagonist, is used for the treatment of chronic hyponatremia in adult patients with syndrome of inappropriate antidiuretic hormone secretion (SIADH). However, its use in children has not been established. Here we present a child case of chronic SIADH successfully treated with tolvaptan. The patient is a 5-year-old boy with congenital intracranial teratoma, complicated with hydrocephalus and severe motor and mental retardation. He has combined central ...

Congenital Lipoid Adrenal Hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is caused by mutation in the steroidogenic acute regulatory protein (StAR) gene, which can be of autosomal recessive inheritance. A 6-year-old girl, with a background of recurrent febrile seizure, presented with history of seizure, preceded by 1-day history of fever. On presentation, she had reduced consciousness, hypoglycemia with refractory hypotensive shock. She was in...

Objectives: Although there are some recommendations in the literature on the assessments that should be performed in children on rhGH therapy, the level of consensus on these measurements is unclear. The objective of the current study was to identify the minimum dataset that could be measured in a routine clinical setting across the world.Methods: This exercise was undertaken through the GH Scientific Study Group (SSG) i...