- Docente: Laura Mazzanti
- Credits: 4
- SSD: MED/38
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Second cycle degree programme (LM) in Medical Biotechnology (cod. 8859)
Learning outcomes
Physiopathology of growth and puberty.
Auxo-anthropometric and puberty evaluation methods, phenotype evaluation principles in evolutionary age.
Analysis of the main physiological and pathological evolutionary processes related to growth and body proportions.
Sexual Difference and DSD (Sexual Development Disorders). Genotype-phenotype correlations in major monogenic pathologies and aneuploidy.
Indications on the request for genetic analysis based on phenotype anomalies
Course contents
Growth, Growth Factors,
Principles of auxology and anthropometry,
Evaluation of body proportions,
Growth charts, comparison with normality standards
Principles of dysmorphology,
Dismorphisms to suspect a genetic disease
Delineation of the major genetic and congenital malformative diseases at neonatal or pediatric outbreaks: chromosomal, monogenic, multifactorial etiology
Clinical and etiopathogenesis of growth pathology
Short stature and non-endocrine ethiology, Short stature and genetic conditions
Gigantism and genetic conditions
Puberty: aspects of physiology and pathology.
Genetic obesity
Skull shape and size, related genetic pathologies
DSD, disorders of sexual differentiation, and molecular aspects
Gonadoblastoma, Turner's Syndrome and Y Chromosome
Gene SHOX: Clinical and Molecular Aspects
Readings/Bibliography
Smith's Recognizable Patterns of Human Malformation, 7th Edition
Jones, Jones & del Campo, Elsevier
Teaching methods
Frontal lessons
Molecular lab tutorials
Assessment methods
Multiple answer questions
1 open question
Teaching tools
Slides
Patients' pictures
Pediatric Molecular Genetic Lab tutorials
Office hours
See the website of Laura Mazzanti