ESPE Abstracts

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...