ESPE Abstracts

Introduction: The gold standard for the diagnosis of adrenal insufficiency (AI) is the ACTH stimulation test. According to the guidelines approved by the European Endocrine Society, the ACTH stimulation test should be performed with the administration of the standard dose of i.v. Synachten® 250 µg for adults and children aged ≥ 2 years (infants should receive 15 µg/kg, children ≤ 2 years 125 µg). In many clinical settings a Syna...

Introduction: Continuous-glucose monitoring (CGM) is becoming a useful tool to evaluate glucose profiles in real-life conditions and to detect glucose abnormalities undetected by OGTT in CF patients.Objectives: • Evaluation of OGTT and CGM results longitudinally • Evaluation of BMI z-score and %FEV1 changes in relation to OGTT and CGM results. • Analysis of 6 proposed criteria to classify glucose abnormali...

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at the development of secondary sexual characteristics, cognitive functions, uterine growth and maturation, bone mass accrual and linear growth. To date, the best induction regimen, capable of assuring both physiological gradual progression through Tanner stages and effective uterine development, is still to be established.Patients a...

Introduction: Triple CFTR modulator therapy has been shown to improve lung function and quality of life in patients with at least one F508del mutation in the CFTR gen. However, effects on glucose metabolism are not yet well defined. This paper aims to describe the effects of this treatment on glucose metabolism in CF patients.Methodology: Ambispective study.Inclusion criteria: pati...

Introduction: Central precocious puberty (PPC) is defined by the appearance of sexual characters at a chronological age lower than -2.5DS of the average for the reference population. Diagnostic is clinical but the hormonal assessment is essential. Basal gonadotropin values are not enough for the diagnosis. Gonadotropin-releasing hormone (GnRH) stimulation tests evidence the activation of the hypothalamic-pituitary-gonadal axis, however there is controversy abo...

Background/Objectives: Hypergonadotropic hypogonadism (HH) is characterised by primary gonadal failure with excess of pituitary gonadotropin secretion. The causes can be congenital or acquired. Herein, we report a case of a 10-years-old-boy with obesity, development of HH during follow-up and a novel genetic variant in NR5A1 (SF1) gene with de novo origin.Methods: The child presented with obesity (started at the age of 5...

Purpose: To assess the prevalence in 2017 and elucidate the well-being of youngsters with gender dysphoria.Background: Gender dysphoria is described as a strong and persistent feeling of being born in the wrong sex. Often the feeling is associated with impaired ability to function in everyday life, found in children, adolescents and adults. For adolescents with gender dysphoria, puberty is an additional mental strain that can lead to depression, anxiety ...