hrp0095rfc10.3 | GH and IGFs | ESPE2022

A rare HESX1 variant in a patient with congenital hypopituitarism

Anastasia Ibba , Paraluppi Valentina , Lussu Anna , Guzzetti Chiara , Casula Letizia , Loche Sandro

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

hrp0097p1-303 | GH and IGFs | ESPE2023

Further analyses on the role of IGF-I in the diagnosis of GH deficiency (GHD) in children

Lussu Anna , Incandela Valeria , Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Loche Sandro

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...

hrp0097p2-162 | GH and IGFs | ESPE2023

Correlation between IGF-1 at diagnosis and adult height in children with short stature

Incandela Valeria , Lussu Anna , Guzzetti Chiara , Ibba Anastasia , Loche Sandro , Casula Letizia

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...