ESPE Abstracts

Introduction: Growth hormone deficiency diagnosed in paediatrics is most often idiopathic. However, it is essential to look for pathology of the hypothalamic-pituitary region in order to individualise the management and follow-up of children according to the pituitary lineages affected. Our aimis to report the diagnosis particularities of malformative pathologies of the pituitary gland in children referred to the paediatric endocrinology consultation at Batna University Hospital.

Materials and Methods: This was a retrospective study of the records of children followed up in the endocrinopaediatrics consultation at Batna University Hospital for pituitary malformative pathology.

Results: we report 20 cases followed for malformative pathology of the pituitary gland represented by 10 cases of pituitary hypoplasia and 10 cases of pituitary stem interruption syndrome (PSIS) with an average age of diagnosis of 4.4 years (12 months - 12 years), A clear male predominance (80% of cases of SITP and 6/10 cases of pituitary hypoplasia), the reason for consultation was growth retardation in all cases of pituitary hypoplasia, and 85% of cases of PSIS, with 3 cases consulting for hypoglycaemia. Growth retardation was severe in all children (height between -3 and -4 DS according to WHO curves) with a collapsed IGF1 level, severe deficit (peak GH<10 mIU/ml) was noted in all cases of PSIS, less severe in children with pituitary hypoplasia. 38.9% had multiple pituitary deficits. Associated extrapituitary malformations included strabismus in 5 children and holoprosencephaly in one case. Progression on opioid replacement therapy was favourable in all cases (statural gain of 7-12 cm in the first year), except for one boy who presented a slowdown in growth on GH treatment associated with underlying coeliac disease.

Discussion: Pituitary malformations should be systematically investigated in the presence of a particularly male child presenting with severe growth retardation and low IGF1, to avoid the need for multiple dynamic tests. Pituitary deficiencies are progressive, with a risk of new hormonal deficiencies developing; this suggests the value of long-term hormonal monitoring.

Conclusion: Somatotropic deficiency is the most common type of pituitary malformation, which makes pituitary MRI a high priority in the presence of severe growth retardation with low IGF1, pending improvement in genetic diagnosis which could predict the evolutionary profile.