ESPE Abstracts

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...