ESPE2023 Poster Category 2 GH and IGFs (15 abstracts)
rhGH treatment in SGA patient with spondylo-epi-metaphyseal chondrodysplasia
Giulia Aquisti 1 , Montafia Ilaria 2 , Bianco Carlo 2 , Pagliero Federica 2 , Rabbone Ivana 2 , Bellone Simonetta 2 , Prodam Flavia 3 , Petri Antonella 2 & Partenope Cristina 2
1SCDU Pediatria, Università del Piemonte Orientale-AOU Maggiore della carità, Novara, Italy, Novara, Italy. 2SCDU Pediatria, Università del Piemonte Orientale-AOU Maggiore della carità, Novara, Italy. 3Dipartimento di Scienze della Salute, Divisione Endocrinologia, Università del Piemonte Orientale - AOU Maggiore della Carità, Novara, Italy
We report rhGH-treatment results in a 14-yrs-old SGA patient with spondylo-epi-metaphyseal chondrodysplasia. The patient carries a rare de novo eterozygous variant of COLA1 (c.1510G>A, P.Gly 504Ser) associated with a rare AD spondylo-epiphyseal dysplasia. Born at term after olygohidramnios-complicated pregnancy, SGA for weight and lenght, the patient has showed a post-natal reducing growth with regular cognitive development. At the age of two height was -4 SDS, with parental-target of 160,6 cm (+/- 8cm). At his arrival in our department at the age of 6,2, height was 91 cm (SDS -5,27) and weight 17,3 kg (SDS -3,52). He showed short upper and lower limbs, short trunk/limbs ratio and hyperlordosis attitude. Two provocative tests confirmed GH deficiency and bone age showed 4 years delay. Short stature NGS genetic test was performed, exiting in a rare de novo eterozygous variant of COLA1 associated with multiple spondylo-epiphyseal dysplasia. Considering the severe short stature condition, in a SGA patient, recombinant grouth hormone (rhGH) treatment was started. During follow-up, he received rhGH treatment with a mean dosage of 0,038 mg/kg/day with mean IGF1 SDS of +0,63. Auxological parameters at 14,5 years are height 133 cm (SDS -4,13) and IGF1 SDS +0,66, with a height gain of SDS +1,14 since the beginning of rhGH treatment. Growth hormone deficiency in SGA patient has given the chance to pursue the rGH therapy, albeith with unsatisfactory results in consideration of the condrodyslasia diagnosis in our patient. Limb lengthening surgery has been proposed as a valid option to guarantee to these patients a better quality of life.
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