ESPE Abstracts

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a transient, recurrent or persistent course. Transient CHI (tCHI) is considered to be caused by non-genetic risk factors e.g. birth asphyxia and intrauterine growth restriction (IUGR), while persistent hyperinsulinism is known to be caused by mutations in at least nine genes: ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A and UCP2.Objective and hy...

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

Background: Lifestyle interventions show a long lasting weight reduction in only 10–20% of obese children and adolescents. Leptin as one major player within the central regulation of food intake and energy expenditure is most likely to mediate the endogenous drive for weight regain.Objective and hypotheses: To estimate weight regain after weight loss and the role of leptin in regain.Method: We included 153 obese children/adole...

Introduction: FlexPro® PenMate® (PenMate®) (Novo Nordisk A/S, Denmark) aims to reduce needle anxiety by hiding the needle during injection. This usability test validated the safe and effective use of PenMate® and the instructions for use (IFU) in patients with growth hormone (GH) deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA).Me...

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5–10% women in this age group. Its suggestive cardinal features are hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The diagnostic gold standard tool is pelvic ultrasound (PUS) which may be limited in overweight and obese adolescent girls.Objective and hypotheses: To evaluate the contribution of pel...

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...