ESPE Abstracts

Background: Advances in genetic analysis techniques has greatly contributed to recent discovery of causative genes associated with overgrowth with intellectual disability (OGID). Tatton-Brown-Rahman syndrome (TBRS) (OMIM #615879) was one of them, characterized by tall stature, a distinctive facial appearance, and intellectual disability. This syndrome was first reported in 2014. Thus, long-term clinical courses are unknown. We present our Japanese case with OGID who was diagno...

Background: Gonadal dysfunction is one of the major endocrinological late effects among cancer survivors. Chemotherapeutic agents and radiation are so gonadotoxic that ovarian reserve diminishes. Measurement of anti-müllerian hormone (AMH) concentration is useful as a marker of ovarian reserve or gonadal deficiency in female childhood cancer survivors (CCSs), particularly among patients without high gonadotropin levels.Objective and hypotheses: The ...

Type II collagenopathy is a generic name of the skeletal dysplasia caused by COL2A1 gene, such as achondrogenesis type II, spondyloepiphyseal dysplasia (SEDC), spondyloepimetaphyseal dysplasia (SEMD). Since this is a rare disease, genotype-phenotype characteristics is still unclear. Here, we describe the genotype-phenotype characteristics of four families of type II collagenopathy in our hospital. Family 1: the proband was 2-year-old girl. She showed severe short stat...

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), transitional care among pediatric and adult endocrinologists has not been established in Japan.Objective and Hypotheses: To know the present situation and to cultivate a better understanding, we had conducted a nation-wide survey targeting Japanese pediatric endocrinologists.Method</stro...

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), their fertility has not been clarified in Japan.Objective and hypotheses: To address this issue, we organized a working panel to compile evidence from CCSs. The team consisted of various medical specialists in foundation hospitals.Method: We had conducted the questionnaire surveys targeting pediatric endocrinologists regarding r...