ESPE Abstracts (2021) 94 P2-414

Shanghai Children's Medical Center, Shanghai, China

Objective: To enhance the understanding of the clinical phenotypes of patients with SOX2 gene mutations.

Method: A retrospectively analysis of the clinical manifestations and the laboratory results of a child diagnosed as idiopathic hypogonadotropic hypogonadism(IHH) by whole exome-gene sequencing and a review of relevant literatures.

Results: A 12-year-old boy clinically manifested short stature, mental retardation, a history of strabismus and gonadal dysgenesis,whose imaging examination showed no structure of the olfactory bulb.Whole exome-gene sequencing was performed and then identified the SOX2 gene de novo heterozygous mutation c.259A>G,p.Lys87Glu.

Conclusion: The SOX2 gene is involved in the development of the eyeball,the central nervous system,the olfactory bulb and the gonads. Mutations in this gene can lead to hypogonadotropic hypogonadism and olfactory bulb agenesis.The mutation site of this case has not yet been reported, and this is the first reported case of olfactory bulb agenesis in a SOX2 gene mutation patient, expanding the clinical phenotype of SOX2 gene mutations and the pathogenic gene pool of IHH.The whole exome-gene sequencing methods is helpful in the molecular diagnosis of such genetic heterogeneous diseases.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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