ESPE Abstracts

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).

Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologies (HP).

Method: We studied 87 patients with HP (Russell Silver syndrome – 9 patients, Noonan syndrome – 13, Sekkel syndrome – 14, Prader-Willi syndrome – 11, Cornelius de Lange syndrome – 8, Turner syndrome (TS) – 32 patients aged 8 to 17 years old. A level of somatostatin and GH in blood serum and anthopometrical data (SDS) were studied

Results: Stunting of various degree of expression was noted in all patients with HP but the most pronounced stunting was observed in patients with Russell-Silver syndrome (−5.16±1.18 SDS), with Sekkel syndrome (−4.18±1.12 SDS) and Cornelius de Lange syndrome (−6.10±1.14 SDS). A reliably high level of somatostatin was in patients with Cornelius de Lange (98.30±4.38 pg/ml, P<0.05), Russell-Silver syndrome (85.36±3.44 pg/ml, P<0.05), Sekkel syndrome (69.27±3.27 pg/ml, P<0.05) on the background of a low level of GH in these patients. Patients with Noonan syndrome, TS and Prader-Willi syndrome the level of somatostatin and GH was within the lower border of normal ranges.

Conclusion: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin – GH).