ESPE Abstracts (2014) 82 P-D-2-1-566

The Research About sf1 Gene Abnormality in 45 Children with Micropenis

Pin Lia,b, Yan Gonga,b & Ying Zhuzhia,b

aShanghai Children’s Hospital, Shanghai, China; bShanghai Jiaotong University, Shanghai, China

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.

Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.

Method: 45 micropenis boys were collected from Endocrinology Department in October 2011 to February 2013 and 50 healthy children as control, and blood DNA was extracted, then PCR amplification products and SF1 gene sequencing were analysed. Sequencing results using sequencher software for sequence alignment.

Results: That in 45 cases detected 14 cases of mutation, a total of four kinds, including ten cases of mutation for c.437 G>C (p.G146A), the rs code rs1110061.And the H–W population genetic balance test, for P values>0.05, which each genotype between the groups (GG, GC, and CC) and the frequency of allele (G/C) in the distribution between the two groups had no significant statistical difference. The rest mutations were two missense mutation and one synonymous mutation, respectively two cases of c.565C>T (p.P189S) mutation, one case of c.1056G>T (p.Q352H) mutation; one case of is 1062 (G>A). That applied Polyhen and Mutaion-Tastor Software to predict c.565C>T (p.P189S) had no obvious effect on protein function, and c.1056G>T (p.Q352H) caused disease and amino acid change.

Conclusion: SF1 genetic abnormality is an infrequent cause in children with micropenis, only one sample of c.1056G>T (p.Q352H) may be one of the pathogenic mutations in children with micropenis.

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