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Sinéad Moloney and Maura Dowling outline how to treat this hormonal disorder and suggest ways to improve parental and carer education The endocrine disorder adrenal insufficiency includes inadequate production of the steroid hormone cortisol. This results in poor physiological responses to illness, trauma or other stressors and risk of adrenal crisis. Management is based on administration of hydrocortisone. It is important to avoid underor over-treatment and increase the dosage during times of physiological stress. To reduce morbidity, hospital admissions and mortality, the education and empowerment of parents and carers, and prompt intervention when necessary are essential. A steroid therapy card for adrenal insufficiency containing personal information on a patient’s condition was developed for use by families and their specialist centres. peer-reviewed

Contains fulltext : 89008.pdf (Publisher’s version ) (Closed access) Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems. 01 februari 2010