ESPE Yearbook of Paediatric Endocrinology

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...

Brief summary: Genome-wide small hairpin RNA screening revealed a specialized role for the protein phospholipase D6 (PLD6) located at and highly expressed in the outer mitochondrial membrane of cells in steroidogenic organs. Here PLD6 promotes the entrance of LDL/LDLR complex into the mitochondria where LDL-carried cholesterol is released for steroid hormone biosynthesis.Thereby the mitochondrial redox-sensitive CISD2 protein was found to support the trafficking of the LDL/LDL...

Brief summary: This basic science study in mice shows how melanocortin neurons integrate reproductive signaling with energy homeostasis. In melanocortin neurons, estradiol (E2) enhances the anorectic action of leptin. Cited1 is enriched in these neurons and its loss exacerbates diet-induced obesity in female mice. Using several specific mouse models it is demonstrated how hypothalamic Cited1, via ERα and Stat3 interactions, link the effects of E2 and leptin on food intake...