Endocrine Abstracts

The sonic hedgehog (shh) pathway is known to be essential for pituitary development but little is known of its role in adult pituitary. Patched1, encoded by the Patched1 (Ptch1) gene, is a receptor for shh expressed in all cell types of the anterior pituitary. Adult onset hypogonadotropic hypogonadism has been reported in a genetically engineered mouse line with deletion of Ptch1 using S100a4 promoter driven CRE recombinase expression which is restri...

BackgroundAcute intermittent porphyria (AIP), a rare autosomal-dominant inherited disorder, caused by pathogenic mutations in the gene encoding porphobilinogen deaminase (PBGD). To explore its clinical characteristics, we investigated three patients with AIP admitted to our hospital.MethodsIn this study, patients successfully diagnosed with AIP and treated at the First Hospital of Shanxi Medical University si...

BackgroundThe reported HMBS mutations of acute intermittent porphyria(AIP) have been increasing gradually in China. We aim to explore its mutation characteristic in China and improve the understanding of its molecular heterogeneity.Material/methodsWe searched the literature about Chinese AIP patients with HMBS mutation in the PubMed, CNKI, Wanfang and CQVIP database, and 3 AIP patients with HMBS mutation in o...