ECE2014 Poster Presentations Paediatric endocrinology (33 abstracts)
Differences in skeletal development and growth in children with Noonan syndrome
Alina Daniela Fadur 1 , Cristina Rusu 1 , Mihaela Anton 2 , Ioana Bodescu 1 , Adina Manolachie 1 , Jeanina Idriceanu 1 , Ioana Vasiliu 1 , Maria-Christina Ungureanu 1 , Voichita Mogos 1 & Carmen Vulpoi 1
1University of Medicine and Pharmacy ‘Gr. T. Popa’ Iasi, Iasi, Romania; 2Emergency Hospital Bacau, Bacau, Romania.
Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).
Methods: We reviewed the cases of five children with NS (three boys, two girls, aged between 5 and 13 years), evaluated at the endocrinology department between January 2010 and January 2014. Clinical and hormonal data, calcium metabolism, as well as osteodensitometric and radiographic bone assessment were documented.
Results: All children had specific phenotype for NS, three of them having molecular confirmation (KRAS, PTPN11, and SOS1 mutation). All had short stature, with a mean height of −3.27 s.d\. Hand–wrist radiography showed moderately delayed bone age. BMD/DXA was performed in four children and revealed osteopenic Z-score in all cases. None of the patients had congenital bone deformities described at birth, but one with SOS1 mutation had a major scoliosis with a double curve diagnosed at age 2 and did not received treatment with rhGH. All patients treated with rhGH had a good growth respose with mean height velocity between 0.55 and 0.70 cm/month in 24 months interval. The most frequent skeletal anomaly was chest deformity: inferior pectus excavatum and/or superior pectus carinatum, present in all patients. Other bone anomalies included: cubitus valgus, varus equin foot, and slightly shortness of fingers and toes and these features do not contraindicate the treatment with hGH.
Discussions: Disorders of RAS/MAPK pathway have an overlapping skeletal phenotype suggesting its importance in bone homeostasis. All patients with NS had short stature with late bone development and different skeletal deformities. rhgh treatment is very important in these children and the earlier initiation of therapy, the greater growth optimization is possible.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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