ESPE2023 Poster Category 1 GH and IGFs (48 abstracts)
A rare case of microduplication 5q35.2-q35.3, also known as anti-Sotos syndrome, in a female patient.
Carlo Bianco 1 , Ilaria Montafia 1 , Federica Pagliero 1 , Giulia Aquisti 1 , Antonella Petri 1 , Simonetta Bellone 1 , Ivana Rabbone 1 , Flavia Prodam 2 & Cristina Partenope 1
1SCDU Pediatria, Università del Piemonte Orientale - AOU Maggiore della Carità, Novara, Italy. 2Dipartimento di Scienze della Salute, Divisione di Endocrinologia, Università del Piemonte Orientale - AOU Maggiore della Carità, Novara, Italy
V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumference 38,5 cm (SDS +3,75). Her past medical history was unremarkable. During the first visit in our Pediatric Endocrinology Centre, the patient’s auxological parameters were: age 0,7 years, length 60 cm (SDS -3,56); weight 5250 g (SDS -3,4), CC 39,5 cm (SDS -2,81). Blood count showed a thalassemia trait; liver, renal and thyroid function were normal, screening for coeliac disease was negative. V.C presented a mild psychomotor delay (especially in language abilities) confirmed by child neuropsychiatry evaluation (total IQ 84, verbal-linguistic IQ 70). Echocardiography and abdominal ultrasound resulted normal. Growth hormone stimulation test with GHRH + arginine showed a normal response with normal IGF-1 levels. Bone-age assessment was equal to the chronological age. CGH-array showed a microduplication of 5q35.2-q35.3, where the NSD1 gene is located. A loss-of-function of this gene is associated with Sotos syndrome, characterized by overgrowth, distinctive facial features, macrocephaly, and cognitive impairment. In contrast, the duplication of the NSD1 gene appears to be associated with short stature (probably related to downregulation of IGF-1 receptor signaling and altered mTOR signaling), microcephaly, dysmorphic features, and intellectual disabilities with wide phenotypic variability. The same microduplication was found in the mother. Due to the persistence of short stature of the patient at an age of 9 years, after the approval of the regional committee, she has been recently started an off-label treatment with recombinant growth hormone.
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