BSPED2017 Poster Presentations Miscellaneous/other (16 abstracts)
Is there an association between endocrine conditions, including growth hormone deficiency, and Chiari-1 Malformation? A retrospective single centre study
Sabba Elhag , Jamie Shah , Ruth Krone , Melanie Kershaw , Nick Shaw , Timothy Barrett , Jeremy Kirk , Vrinda Saraff , Wolfgang Hogler , Guirish Solanki & Renuka Dias
Birmingham Children’s Hospital, Birmingham, UK.
Introduction: Chiari-1 malformation (C-1M) is defined as the crowding of the craniocervical junction as a result of congenital cerebellar tonsil descent past the foramen magnum. Reported association between endocrine disorders and C-1M is mostly anecdotal.
Aims: To evaluate the prevalence of endocrine disorders in C-1M against the prevalence of C-1M in those with isolated Growth Hormone Deficiency (GHD) with the aim of determining if there is a significant association.
Methods: We undertook a retrospective study of all patient cases under paediatric endocrinology at our hospital with confirmed C-1M since June 2002 (N=20). This was compared to the number of patients under treatment for isolated GHD and found to have C-1M. Bar demographics and co-morbidities including endocrine abnormalities, the following data points were reviewed: age at/method of diagnosis, height/weight centiles, velocity, mid parental/final height, and endocrine function (baseline and on dynamic function testing).
Results: 21 cases were identified as suspected C-1M. N=20 had MRI confirmation and N=1 was excluded. 40% (N=8) had GHD with treatment, 15% (N=3) had GHD and short stature and a separate 20% (N=4) had idiopathic short stature (ISS). This totalled 60% (N=12) with either GHD or ISS. Other endocrine conditions found included pan-hypopituitarism, hypophosphatasia, precocious puberty, undescended testes, polycystic ovarian syndrome, osteoporosis, vitamin D deficiency and fasting hyperinsulinemia (N=1 per condition). 20% (N=5) were obese, which was not unexpected given 25-33% of UK children are obese. N=848 patients were identified as requiring growth hormone injections since 2007. Of these, an additional N=2 patients had C-1M that were not in our original cohort.
Discussion: Less than 1.2% of patients with GHD were diagnosed with C-1M. Therefore, there would not appear to be a significant association between endocrine dysfunction and C1-M although further studies into the entire C1-M cohort need to be done.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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