ESPE Abstracts

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare endocrine disease associated with early and aggressive medullary thyroid carcinoma (MTC), pheochromocytoma and several non-endocrine manifestations. MEN 2B is often diagnosed late, when symptomatic thyroid disease is present. Recognition of early, often non-endocrine, manifestations is elemental and may lead to early intervention through early diagnosis. However, early recognition is complicated by both the br...

Background: Testotoxicosis or familial male-limited precocious puberty (FMPP) is a rare disease caused by an autosomal dominant activating mutation of the luteinizing hormone receptor gene, leading to early gonadotrophin-independent precocious puberty. Phenotypic expression is limited to males. Treatment evolved over the last decades and nowadays consists of a combination of a potent anti-androgen agent and a third-generation aromatase inhibitor. Since the identification of et...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

Introduction: Androgen insensitivity syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the X-chromosomal androgen receptor (AR) gene. Nevertheless, in over 50% of individuals with clinical AIS no AR coding gene mutation can be found. We previously established an assay (apolipoprotein D (APOD) assay) that measures androgen dependent AR-activity in genital skin fibroblasts (GFs). Using this assay we identified a gro...