hrp0086p1-p222 | Diabetes P1 | ESPE2016

Transient, Neonatal Hyperinsulinemic Hypoglycemia May be Monogenetic, Not Only Secondary to Fetal Life Events

Olesen Louise , Jacobsen Anne , Brusgaard Klaus , Christesen Henrik

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...

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

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...

hrp0082p2-d1-368 | Fat Metabolism & Obesity | ESPE2014

MAINTAIN: an Intervention Study of Weight Regain After Weight Loss in Adolescents and Children Reveals an Only Minor Role of Leptin in Weight Regain

Wiegand Susanna , Bau Anne-Madeleine , Ernert Andrea , Krude Heiko

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...

hrp0082p3-d2-826 | Growth (1) | ESPE2014

Usability and Safety of FlexPro® PenMate® in Patients, Caregivers and Healthcare Professionals (HCPs)

Wen Yanhong , Korsholm Conny Nohr , Klinck Rasmus , Kappelgaard Anne-Marie

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...

hrp0084p1-109 | Perinatal | ESPE2015

Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

Lambert Anne Sophie , Lucchini Philippe , Bouvattier Claire , Bougneres Pierre

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...

hrp0084p3-991 | Gonads | ESPE2015

Pelvic MRI as Alternative to Pelvic us for the Diagnosis of PCOS in Overweight and Obese Adolescent Girls

Kayemba-Kay Simon , Heron Anne , Benosman Sidi Mohamed

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...

hrp0084p3-1193 | Thyroid | ESPE2015

NKX2-1 p.Asp266Argfs142X De Novo Mutation in a Girl with Congenital Hypothyroidism (CH): Phenotypic Description

Stoeva Iva , Thorwarth Anne , Stoilov Boris , Krude Heiko

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

hrp0094p2-157 | Diabetes and insulin | ESPE2021

A case of severe hypertriglyceridaemia complicating new-onset type 1 diabetes mellitus

Belkhatir Khadidja , Lokulo-Sodipe Oluwakemi , Frohock Anne-Marie , Basu Supriyo ,

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...

hrp0095p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary tuberculosis and hypothalamic obesity can be reversed by prolonged anti-tuberculosis treatment

Rochtus Anne , Lagae Lieven , Vermeulen Francois , de Zegher Francis

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

hrp0082p2-d2-468 | Growth (1) | ESPE2014

Successful GH Treatment for Severe Growth Failure in Paediatric Patients with Anorexia Nervosa

Fjellestad-Paulsen Anne , Bargiacchi Anne , Doyen Catherine , Raverdy Cecile , Carel Jean-Claude , Leheuzey Marie-France , Leger Juliane

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...