ESPE Abstracts

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

Introduction: McCune-Albright Syndrome (OMIM #174800) is a mosaic disorder, characterized by “café-au-lait” spots, fibrous dysplasia, and autonomous hyper function of one or more endocrine organs, within the peripheral precocious puberty remains the most common manifestation. This disease is caused by GNAS gene activating mutations.Objective: To describe clinical and endocrine characteristics in ten pa...

Background: Familial partial lipodystrophy type 2 (FPLD2) is a heterogeneous rare disease characterized by selective fat loss, mainly affecting the limbs. It is attributed to LMNA gene, which encodes lamins A and C, structural proteins components of the nuclear lamina. LMNA variants have been previously described with cardiac abnormalities with and without lipodystrophy in FPLD2.Case description: We describe a 1...

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...