ESPE Abstracts

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...

Background: WDR11 has recently been reported as one of the causative genes of hypogonadotropic hypogonadism (HH). To date, five missense mutations in WDR11 have been identified in six patients with normosmic isolated HH (nIHH) or Kallmann syndrome (KS).Methods: We performed mutation screening of WDR11 for 46 cases with various types of HH. RT-PCR was carried out for a patient with a mutation. The protein structure of the mutant...

Background: Hypospadias is a relatively common form of 46,XY disorders of sex development. Although several genes have been implicated in the development of hypospadias, molecular basis of the majority of cases remain unknown. Recently, targeted disruption of lysine-specific demethylase 3A (KDM3A) were shown to cause defective sex development in male mice.Objective and hypotheses: The aim of this study was to clarify whether KDM3A mutations underlie hypo...