Belated diagnosis of Silver-Russell Syndrome (SRS): Presentation of three cases

Ilektra Toulia; Parthena Savvidou; Athina Ververi; Konstantina Kosta; Maria Grammatikopoulou; Anastasios Vamvakis; Aikaterini Theodosiadi; Charalampos Antachopoulos; Kyriaki Tsiroukidou

P3-160

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ESPE Abstracts (2024) 98 P3-160

ESPE2024 Poster Category 3 Growth and Syndromes (34 abstracts)

Belated diagnosis of Silver-Russell Syndrome (SRS): Presentation of three cases

Ilektra Toulia ¹ , Parthena Savvidou ¹ , Athina Ververi ² , Konstantina Kosta ¹ , Maria Grammatikopoulou ³ , Anastasios Vamvakis ¹ , Aikaterini Theodosiadi ¹ , Charalampos Antachopoulos ¹ & Kyriaki Tsiroukidou ¹

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¹Pediatric Endocrine Unit, 3rd Department of Pediatrics, Hippokration General Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece. ²Genetic Unit Papageorgiou Hospital Thessaloniki, Thessaloniki, Greece. ³Unit of Immunonutrition and Clinical Nutrition, Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece

Background: Silver-Russell Syndrome (SRS) is a clinically heterogenous syndrome, characterized by intrauterine and postnatal growth retardation, distinct facial features, relative macrocefaly at birth and body asymmetry later in life, in combination with other malformations. Feeding difficulties, hypoglycemia and speech delay may appear. SRS diagnosis is clinical, according to the Netchine–Harbison clinical scoring system. Only 60% of cases are genetically confirmed, while the majority of cases are sporadic.

Objective: To describe three cases of Russell-Silver syndrome diagnosed and treated in our Endocrine Unit within a period of one year.

Case presentation: Case 1: A 2 - year old girl born appropriate for gestational age (AGA) sought medical advice due to growth retardation and feeding difficulties. Due to her facial features, SRS was suspected and confirmed with molecular testing (maternal disomy of chromosome 7). She also presented hypoglycemia.

Case 2: A 2 – year old boy born small for gestational age (SGA) and with intrauterine growth restriction (IUGR), presented with extreme growth failure along with distinct facial features, suggestive for SRS. He also had psychomotor delay and episodes of hypoglycemia. Molecular testing confirmed the diagnosis (maternal disomy of chromosome 7).

Case 3: A 3- year old boy, born premature, SGA and IUGR, presented with short stature, large head, prominent forhead and anisomelia. Molecular testing revealed SRS (hypomethylation at H19 region DMR/ICR1, of chrosome 11). All patients initiated GH substitution within the first year of diagnosis, with excellent results.

Conclusion: Although SRS is a well described and known syndrome, belated diagnosis can have severe consequences on patient’s growth. GH substitution is often initiated shortly after the diagnosis and in our patients had an excellent result on their growth. The follow up of SRS patients requires multidisciplinary management.