ESPE Abstracts

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Background: The GnRH-agonists are the drugs of choice for therapy of idiopathic-CPP. To assess two different GnRH-agonist (Leuprolide acetate: LA vs Triptorelin depot: TD) treatment effects on anthropometric measurements.Patients and methods: 74 girls with ICPP (mean age 33.8±8 years) were enrolled the study. Complaints had been begun before 8 years old. 50 girls underwent GnRH stimulation test. 58 girls with ICPP were followed up 18 months. Childre...

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

Introduction: Formulations and doses of GnRH analogues used to treat idiopathic central precocious puberty (iCPP) may vary with clinician preference or local approvals. Aim of this study is to define factors that affect initial depot leuprolide acetate (LA) dose which suppress hypothalamo-pituitary-gonad (HPG) axis in girls with iCPP.Methods: A total of 220 girls receiving LA for iCPP were included. LA is started in the dose of 3.75 mg/28 days, and suppr...