ESPE Abstracts

This report provides an overview of the Molecular Genetics-Function and Therapy (MGFT) department's present and past activities at the Cyprus Institute of Neurology and Genetics (CING), serving as an affiliated Reference Center (RC) for the European Reference Network on Rare Endocrine Conditions (Endo-ERN). Over a period of more than 15 years, the MGFT department has collaborated extensively with endocrine specialists from local government hospitals and the private sector. This collaboration has resulted in the performance of over 2000 genetic tests for the diagnosis of inherited rare endocrine disorders. Notable findings include the identification of pathogenic variants in genes such as CYP21A2 linked to Congenital Adrenal Hyperplasia (CAH) and RET proto-oncogene associated with Multiple Endocrine Neoplasia (MEN) type 2. Additionally, rare and novel pathogenic variants in genes like ANOS1, WDR11, FGFR1, RNF216, and CHD7 have been observed in patients with Congenital Hypogonadotropic Hypogonadism. Furthermore, patients with Disorders of Sexual Differentiation (DSD) exhibited rare pathogenic variants in SRD5A2, HSD17B3, AR and HSD3B2 genes, while those with Glucose and Insulin Homeostasis disorders harbored variants in GCK and HNF1A genes. In recent years, the MGFT department has focused on establishing a distinguished diagnostic and research program on premature puberty, particularly investigating the involvement of the MKRN3 gene in disease onset and identifying potential prognosis biomarkers. As a member of Endo-ERN, the MGFT department aligns with the network's commitment to enhancing healthcare for patients with rare endocrine conditions. Through improved and expedited diagnosis, the department shares in the overarching goal of advancing patient care and well-being within the European community.