ESPE Abstracts

Background: Children with rare genetic disorders may have different endocrine problems

Objective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.

Method: Retrospective study.

Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth hormone (GH) deficiency confirmed by stimulation tests. Mean age of GH treatment start was 6.5±2.2 y.o. and treatment duration varied between 1.0 to 9.9 years (4.6±4.3 years). In all cases, good effect of GH was observed, even if child with Holt-Oram and Marshall’s syndromes had multiple pituitary hormone deficiency. Apart of GH deficiency, the patient with Holt-Oram syndrome developed consecutively with age central hypothyroidism, hypocorticism and hypogonadism and was treated with multiple hormone replacements. The patient with Marshall’s syndrome also had central hypothyroidism and severe hypoglycemia before GH treatment. However, under GH hypoglycemia disappeared; hypocorticism has not been detected. The child with Pallister-Hall syndrome which includes hypothalamic hamartoma had normal puberty. In him, weight excess and impaired insulin sensitivity developed during the monitoring required metformin administration. All patients described had hypothalamo-pituitary anomalies on MRI. Several non endocrine manifestations have been diagnosed.

Conclusion: Children with rare genetic syndromes may have severe endocrine problems and need careful monitoring by a multispecialist team.