ESPE Abstracts

Background: HSD17B3 deficiency is diagnosed when a testosterone/androstenedione (T/A-dione) ratio after hCG stimulation is below 0.8, and this cut-off value is primarily based on hormonal data measured by conventional immunoassay (IA) in patients with feminized or ambiguous genitalia suggesting severely compromised T production. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been regarded as the gold standard for steroid measurement, and it is n...

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

Background: N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) is a recently established rare autosomal recessive disease caused by pathogenic variants in NANS involved in the biosynthesis of N-acetylneuraminic acid (the most common member of sialic acids). Sialic acids are ubiquitously distributed in the body including the brain and skeletal system, and are required for the development and function of multiple organs/tissues. C...