ESPE Abstracts

Background: Among 46,XY individuals, androgen insensitivity syndrome (AIS) due to deleterious variants of the androgen receptor (AR) gene is one cause for a difference of sexual development (DSD). Typically, individuals with complete androgen insensitivity syndrome (CAIS) present with female external genitalia and palpable labial masses. Whereas most patients carry germline variants inherited in an X-linked manner, approximately 30% of patients manifest de novo variants. We de...

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

Rare endocrine conditions present specific diagnostic and management challenges to healthcare providers, especially regarding transition. Despite the need for practical guidance on this subject, consensus on structured approaches to transition are lacking. The aim was to map the current clinical practice, and identify the unmet needs regarding transition of care for patients with pituitary disease in the reference centers (RCs) of the European Reference Network on Rare Endocri...

Background: Poor linear growth is still one of the main concerns in children with congenital adrenal hyperplasia (CAH). An impairment of linear growth, adversely affecting final height, has been related both to overtreatment with glucocorticoid replacement therapy and to poor control of adrenal androgen levels.Objective and hypotheses: To define factors that influence linear growth and final height in patients with classical CAH.Me...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic rats may present increments of blood serum...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Low BW and hypoxia may be associated with circulating Insulin-like Growth Factor-I(IG1...