ESPE Abstracts

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

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...

Background: Adult height prediction models (AHP) were designed several decades ago based on the Caucasian population, hence they are not adapted to our population’s characteristics and secular changes. Technological advances have improved the accuracy of bone age (BA) reading through automated analysis, which has been incorporated into new AHP models, but have not been evaluated in the Mexican population.Objective:...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

Polycystic ovary syndrome is the most common cause of hirsutism and menstrual irregularity in adolescent girls and young women. It is often accompanied by obesity and insulin resistance and is associated to lifelong co-morbidities, including subfertility, type 2 diabetes, non-alcoholic fatty liver disease, pre-menopausal cancer, depression, low health-related Qol, and pregnancy and offspring complications. PCOS in adolescent girls is commonly driven by fat excess in subcutaneo...

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...