ESPE Abstracts

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There i...

In 2004, in France a national plan for rare diseases was structured. The improvement in healthcare provision for rare diseases constitutes a major challenge for public health owing to the epidemiological data, the consequences of these pathologies for the quality of life of the patients and their families and the challenges for research in the domains of diagnosis and treatment. In 2007, with a significant experience about gynaecological care of children and adolescents with r...

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

Introduction: In girls, precocious puberty is defined as the sign of secondary sexual characteristics occurring before the age of 8 years in Caucasian girls. Type 1 diabetes (T1D) is a rare association with precocious puberty. We discuss through this case, the involvement of type 1 diabetes mellitus in the onset of early puberty from a review of the literature.Observation: We report the case of precocious puberty in a 6-year-old girl followed for T1D sin...

Background: Precocious puberty is defined as pubertal development that begins at an earlier age than expected; most paediatric endocrinology subspecialists use cutoff ages of 8 years for girls and 9 years for boys.Objective and hypotheses: We reported in this case, rare association between type 1 diabetes mellitus and precocious puberty.Method: We present a girl with type 1 diabetes developed at the age of 3 years, with good glycae...

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...