Libro blanco de las ACES Pediátricas 2024

Libro Blanco de las ACES Pediátricas 2024 166 ❚ 30 8b.2 Content for tertiary care paediatric endocrinology and diabetes The content in this section is categorised by logical domains. Where appropriate, some content is included in more than one domain. Consensus guidelines and statements produced and those endorsed by ESPE, and seminal references relevant for practicing clinicians are included in the Appendix. These are up to date at the time of publication of this ETR. A. BIOMEDICAL KNOWLEDGE 1 Embryology of the endocrine system B 2 Molecular and genetic basis of endocrine disorders B 3 Hormones • Normal and abnormal regulation, secretion, endocrine and paracrine signalling • Transport in blood • Target cells and receptors • Physiological functions and actions in target tissue B 4 Biochemistry of endocrine tests • Basal hormone levels, serial measurement profiles, stimulation tests, suppression tests • Types of specimens • Assay methods, reference ranges and interpretation B 5 Tests used in endocrinology • Genetic tests, utility, value and limitations • Copy number variant analysis (including chromosome analysis and array comparative genomic hybridisation) • Single-gene, next-generation/multi-gene (targeted gene panels), whole- exome sequencing • Imaging techniques B 6 Stages and regulation of normal growth antenatally and from birth to adulthood B 7 Physiology and physical changes of normal puberty B 8 Embryology and molecular genetic basis for determination, differentiation and development of gonads, internal structures and external genitalia B 9 Steroid biosynthetic pathway B 10 Aetiology, epidemiology and prevention of paediatric endocrine and diabetes problems B 11 Endocrine disrupting chemicals and their adverse effects B 12 Basic immunology and application to autoimmune endocrine disorders B