ESPE Abstracts

Background: Prader–Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in early childhood. An elevated, more unfavorable ratio between acylated:unacylated ghrelin (AG:UAG) may be involved in the underlying mechanisms of this switch.Objective and hypotheses: To assess the evolution of the appetite regulating hormones AG, UAG, and the AG:UAG ratio in infants with PWS a...

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...

Diabetes mellitus is a bihormonal disorder involving both insufficient insulin secretion (from the beta-cells(and dysregulation of glucagon secretion (from the alpha-cells). In healthy people, a fall in plasma glucose increases glucagon and stimulates counterregulatory hepatic glucose production. This response is impaired in many patients with type-1 diabetes (T1D). Why this defect develops is unknown but it may lead to fatal hypoglycaemia, which accounts for up to 10% of the ...

In the early 2000’s, our lab began its efforts to characterize the large-scale functional organization of endocrine cell types within the mammalian pituitary gland. These studies were driven by a long-standing paradox of pituitary function: endocrine cell populations are capable of mounting massive hormone pulses in vivo (e.g. a 1,000-fold increase in GH levels in young mature males), while the same cells isolated from their tissue context respond weakly...

Background: The recent discovery that genetically-modified pancreatic alpha-cells can regenerate and convert into beta-like cells in vivo holds great promise for diabetes research. However, to eventually translate these findings to human, it is crucial to discover compounds with similar activities.Results: We recently identified GABA as an inducer of alpha-to-beta-like cell conversion in vivo. This conversion induces alpha-cell replacement mechanisms thr...

The presence of endometriosis, from minimal/mild disease up to the rASRM classification for endometriosis stages III and IV, has been described repeatedly in adolescent women. The complaints are common and elicit compassion, but rarely stimulate a thorough research of the cause. The clinical reality is that common complaints of dysmenorrhea or acyclic pelvic pain – even before the onset of menstruation – may hide a disease the severity of which is not reflected by th...

Recently our 24-hour culture has been identified as another lifestyle factor that can cause type 2 diabetes. Technological and societal advances such as electric lighting and digital screens – leading to light exposure that is too dim during the day and too bright during the evening –, shift work, time zone transfers, and round-the-clock food availability disrupt our intrinsic and evolutionarily preserved 24-hour rhythms resulting in a desynchronization between lig...

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

Background: The role of calcium in cardiovascular and metabolic risk is controversial.Objective and hypotheses: To examine the effect of highly mineralized natural water in lowering body weight, blood pressure, cholesterol and blood sugar and to assess health behaviour of the staff of a pediatric hospital.Method: Out of 650 pediatric hospital staff members, we examined 161 healthy subjects, aged 28–64 years, 77.5% women, two d...