ESPE Abstracts

Background: The rapidly increasing T1D incidence in European children suggests the recent emergence or extension of predisposing E factors, or the decrease of protective E factors acting during pregnancy, infancy or early childhood. E research has preferentially focused on specific candidate factors, such as hygiene hypothesis, enteroviruses, alimentation, in cohort or case-control studies. The risk of bias is a major concern in E studies.Objectives: To ...

Background: GH treatment in severe GH deficiency during the transition period is a key matter.Objective and hypotheses: To assess the outcome of 30 severe GH deficient (GHD) patients after a structured transition program, in a French Universitary Hospital between 1988 and 2014.Method: 30 patients treated with GH until final height for congenital deficiency: 16/30 (12 ectopic posterior pituitary), brain tumors: 11/30 (5 Rathke’...

Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

Background: Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder involving many organ systems. The frequency of TS is around one per 5000 to 10 000 live births and is caused by mutation in the TSC1 or TSC2 genes. Autoimmune polyglandular syndrome type 2 (APS2) is an endocrinopathy characterized by two or more autoimmune diseases. Several susceptibility genes are known. The prevalence of APS2 is around 1:20 000.Object...

Background: Little is known about the long-term social outcome of diabetic children.Objective and hypotheses: This study aimed to describe social and professional life, quality of life (QOL) and sexuality at adult age of children and adolescents with type 1 diabetes (T1D).Method: Participants (n=388, age=28.5±3.1 years; duration of diabetes=17.0±2.7 years, recruited from a French national register) completed a qu...

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was t...

Context: Newborns with Congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-puberty during the first months of life.Objective: To retrospectively compare the clinical (penile size, volume and testicular descent) and biological efficacy (serum concentrations of test...

Background: Few studies have investigated in detail how the pubertal breast maturation in girls is related to the pubertal growth spurt in a longitudinal setting. The golden standard for assessment of secondary sex characteristics for girls includes breast development (B1-B5)1. The different maturation stages follow the increasing estradiol production from the ovaries also giving rise to the pubertal growth spurt. The QEPS-growth model makes it poss...

Background: Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS) that may be subdivided in two main entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC). The underlying genetic defect in most forms of PPNAD is inactivating germline mutations of the PRKAR1A ...

Summary: Severe obesity with various complications is a growing public health problem in childhood. Due to the lack of available hygienic and dietary therapeutic solutions, bariatric surgery has become, in recent years, one of the only effective treatments for severe obesity to induce persistant weight loss and reduce complications.Material and method: We analyzed a cohort of 162 patients followed in the specialized obes...