ECE2013 Poster Presentations Growth hormome IGF axis – basic (16 abstracts)
Silver–Russell syndrome about 15 cases and review of literature
Nora Soumeya Fedala 1 , Ali El Mehdi Haddam 2 , Farida Chentli 1 , Djamila Meskine 2 , Nadia Kalafat 1 , Meriem Haddad 1 & Fatima Saraoui 1
1Endocrinology, Bab el oued Hospital, Algiers, Algeria; 2Endocrinology, Bologhine Hospital, Algiers, Algeria.
The Silver–Russell syndrome (SRS) is a sporadic heterogeneous disorder, clinically and genetically. The intrauterine growth retardation (IUGR), short stature because of lack of catch-up growth, relative macrocrania and limb asymmetry are the major diagnostic criterias, associated with a large clinical criterias (minor criteria).
We report a case series of 15 cases with SRS, our goal is to relate the frequency of each symptom of the diagnostic criterias and evaluate the response to a long-term treatment by the GH. The diagnosis of SRS was established by the presence of three major criterias and (at least) two minor criterias.
Indeed, all the patients showed short stature and relative macrocrania, and eight of them showed IUGR and body asymmetry. The paraclinical diagnosis (The GH deficiency) was confirmed in four of the cases. The treatment with GH whose efficacy was observed even in the absence of the deficit was reported in six cases.
Although, SRS is a rare entity, it remains under-diagnosed. In spite of the clinical score for the diagnosis – recently established – its accuracy is largely influenced by the experience of the physician. Early diagnosis with initiation of treatment with GH is primordial to improve final height in adulthood.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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