ESPE Abstracts

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecut...

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

Recently, knowledge about the molecular genetic of male infertility has increased. However, in many cases, the etiology of infertility remains unknown. The Cancer/testis antigen: Fetal and Adult Testis Expressed (FATE-1), mainly expressed in human testis has been described two decades ago for his potential role in male infertility. FATE-1 is located on the X chromosome, contains a putative SF1 binding site and is co-expressed with SRY in human fetal testis. To date, only few d...

Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a...

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...

Background: Tubular immaturity, responsible for sodium wasting, is critical during the neonatal period, particularly in preterm neonates. This relates to partial renal aldosterone resistance (Martinerie, Ped Res 2009), coincident with low tubular expression of the mineralocorticoid receptor in newborns (Martinerie, Endocrinology 2009).Objective and methods: Our clinical trial (NCT01176162) aimed to assess aldosterone resistance in neona...

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...

Background: The response to ACTH test (synacthen®) is a very useful for the screening of steroidogenesis enzymatic deficiency. With the development of steroid quantification by LC-MSMS more specific than most of immunoassays, the determination of reference value is required at basal and under stimulation time.Objective and hypotheses:: The aim of this study is the determination in the same extraction and chromatography after Synacthen references val...