ECE2013 Poster Presentations Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) (17 abstracts)
Mutations of SOX2 gene: a novel heterozygous mutation and impact on congenital hypopituitarism
Renata S Auriemma 1, , Annamaria Macchiaroli 3 , Daniel Kelberman 4 , Maria F Faienza 5 , Rosalia Corona 1 , Iolanda Mariano 1 , Sara Giangiobbe 3 , Mariano Galdiero 2 , Rosario Pivonello 2 , Annamaria Colao 2 & Maurizio Gasperi 1
1Section of Endocrinology, Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy; 2Section of Endorinology, Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy; 3Paediatric Endocrinology Unit, ‘Cardarelli’ Hospital, Campobasso, Italy; 4Developmental Biology Unit, UCL Institute of Child Health, London, UK; 5Department of Medicine, University ‘Aldo Moro’, Bari, Italy.
Introduction: Anophthalmia/microphthalmia is a rare developmental craniofacial defect often associated to congenital hypopituitarism with GH deficiency and hypogonadism. SOX2 gene plays a key role in embryonic development regulation and heterozygous mutations of this gene, reported only in 14 patients to date, have been associated to anophthalmia/microphthalmia and congenital hypopituitarism in uo to 10% of cases. Therefore, the study of the SOX2 gene can be clinically useful in determining etiology and appropriate therapeutic approaches.
Patient and methods: We report the case of a novel SOX2 gene mutation in a 17 years old male patient with congenital anophthalmia and hypopituitarism. Brain magnetic resonance imaging (MRI) showed complete agenesis of corpus callosum and ocular bulbs with optic nerve hypoplasia, whereas hormonal assays revealed GH deficiency and hypogonadotropic hypogonadism requiring the appropriate replacement therapy. Familial investigation did not show the same phenotype in any of first-degree relatives. The coding region of the SOX2 gene was sequenced.
Results: The novel heterozygous SOX2 inactivating mutation c.905delC, predicting the frameshift p.Pro302Arg fs*69, was found. Genetic counseling was recommended in all first-degree relatives.
Conclusions: This case illustrates the importance of genetic testing of SOX2 gene to aid correct diagnosis and to assist in clinical management.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more