IMPE Abstracts

In patients with 46,XY disorders of sex development (DSD), next-generation sequencing (NGS) analysis leads to an aetiological diagnosis in ~40% of the cases. One contribution of this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. The aim of this work is to report a case of a patient with 46,XY DSD in whom the identification of a novel variant in MYRF led to the detection of a clinica...

Constitutional delay of puberty (CDP) and congenital central hypogonadism (CH) show great overlap in clinical features and in gonadotrophin and testosterone serum concentrations in boys. The gold standard to distinguish both entities relies on the assessment of pubertal stage beyond 18 years of age. The long lasting insufficient FSH activity in boys with congenital CH may result in lower AMH and inhibin B serum concentrations compared with boys with CDP....

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...