ESPE Abstracts

Introduction: It is challenging to differentiate central diabetes insipidus (CDI) from Nephrogenic Diabetes Insipidus (NDI) or Primary Polydipsia (PP) in patients with polyuria-polydipsia syndrome, especially in the pediatric population. Despite its limited accuracy and low tolerance in children, the water deprivation test (WDT) is still used as a reference.Objectives: To review indications and outcomes of pediatric pati...

Introduction: The management and follow-up of paediatric patients with arginine vasopressin deficiency (AVP-D) is challenging, particularly in infants (0-2 years). Few studies have examined the particularities of AVP-D in this age group.Objectives: To describe clinical, laboratory, and demographic characteristics of AVP-D in infants at diagnosis and to describe the follow-up during the first years of life. To ascertain c...

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

Background: Hypercortisolism due to PPNAD may be cyclical, atypical and may develop suddenly or progressively.Objective and Hypotheses: The performance of salivary cortisol (SF) in this rare cause of Cushing’s syndrome (CS) is lacking.Method: Ten patients (nine F/one M) with PPNAD (two sporadic; eight Carney complex) were evaluated. Among these, six had CS family history, while in two the diagnosis was confirmed by germline PR...

Background: Subclinical hypothyroidism (SH) is defined as normal tyrosine levels in the presence of TSH concentrations between 5 and 10 mU/ml. The impact of SH on IGF system and growth of infants remains unknown.Objective and hypotheses: To evaluate IGF1, IGFBP3 levels and growth velocity (GV) of infants with SH.Method: 98 children up to 36 months of age, recalled due to a TSH >5 mU/ml in the neonatal screening test, were divid...

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

Background: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...