ESPE Abstracts

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...

Background: Nutrient deprivation during early development has been associated with the predisposition to metabolic disorders in numerous epidemiological studies. Experiments with rodents also indicate a developmental plasticity of neuropsychological characteristics following alterations of early postnatal nutrition.Objective: Considering its interaction with metabolism and regulation of appetite and behavior, the endocannabinoid system (ECS) may represen...

Introduction: In various forms of XY disorders/differences of sex development (DSD) the risk of germ cell cancer is increased. In the 2006 DSD consensus statement this risk was estimated to be intermediate in 17beta-HSDtype3 deficiency (HSD17B3D) and low in 5alpha-reductasetype2 deficiency (SRD5A2D) but based on very few cases. Few studies have been performed since; therefore we aimed to review gonadal pathology in an international cohort with these conditions...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...