hrp0082p1-d3-86 | Diabetes (2) | ESPE2014

Implementation of Effective Transition from Paediatric to Adult Diabetes Care with an Outpatient Transition Nurse

Elowe-Gruau Eglantine , Aquarone Marie-Paule , Schluter Virginie , Stoppa-Vaucher Sophie , Phan-Hug Franziska , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Intensive support to facilitate coping and self-care skills is advocated. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services.Objective and hypotheses: While centres providing structured integrated paediatric and adult care seem optimal, many patients op...

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...

hrp0084fc5.5 | Endocrine Oncology/Turner | ESPE2015

Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

Stoklasova Judith , Kaprova Jana , Trkova Marie , Nedomova Vera , Zemkova Daniela , Soucek Ondrej , Matyskova Jana , Sumnik Zdenek , Lebl Jan

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...

hrp0097fc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Polygenic scores for testosterone and SHBG are associated with hormone levels in male infants

Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , B. Fischer Margit , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...

hrp0097rfc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Penile width increases more clearly than penile length during minipuberty: a longitudinal study of 136 healthy infant boys

Mola Gylli , Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , Bistrup Fischer Margit , Juul Anders , P. Hagen Casper

Background: In minipuberty, the male hypothalamic-pituitary-gonadal (HPG) axis is transiently activated triggering a surge in reproductive hormones causing growth of the genitalia. Longitudinal individual growth of the infant penis during minipuberty and associations to the HPG axis and IGF-I have not been thoroughly assessed.Aim: To describe the development of penile length and width as well as their relation to serum c...

hrp0097p1-204 | Adrenals and HPA Axis | ESPE2023

Longitudinal Changes in Serum DLK1 Concentrations During Minipuberty in Healthy Infant Girls; Association to Changes in Linear Growth and Fat Mass

Vilmann Lea , Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , Bistrup Fischer Margit , P. Hagen Casper , Juul Anders

Background: Growth in infancy is considered primarily to be regulated by nutrition and insulin, whereas less is known about the influence of IGF-I, reproductive hormones and other factors of importance. Recently, paternally inherited genetic defects of DLK1 (Delta-like 1 homolog) were found in girls with central precocious puberty (CPP) with a metabolic phenotype. In addition, low maternal serum DLK1 concentrations were significantly lower in pregnant women wh...

hrp0097p2-22 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Hyperinsulinaemic Hypoglycaemia in Term Neonates Without Known Risk Factors Leading to Neurological Damage: A Case Series of 5 Patients From Two Regional Centres in the UK

O'Reilly Freya , Monaghan Marie , Moran Matthew , Gubaeva Diliara , Senniappan Senthil , Likeman Marcus , Giri Dinesh , Amin Sam

Background: Little is known about the prevalence of neonatal hypoglycaemia in the absence of known risk factors, nor its associated neurodevelopmental outcomes. Neurological harm from hyperinsulinism induced hypoglycaemia (HH) may be due to the direct effect of hypoglycaemia as well as its sequelae, such as seizures or apnoeas, leading to secondary insults such as hypoxic brain injury. With our case series we highlight such risks and propose changes to support...

hrp0095rfc6.2 | Sex Development and Gonads | ESPE2022

Dynamic changes of reproductive hormones in male minipuberty: Temporal dissociation of Leydig- and Sertoli-cell activity

S. Busch Alexander , Lindhardt Ljubicic Marie , N Upners Emmie , Bistrup Fischer Margit , Lau Raket Lars , Frederiksen Hanne , Albrethsen Jakob , Holm Johannsen Trine , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

hrp0095rfc7.5 | Growth and Syndromes | ESPE2022

A relevant cellular model to study imprinting disorders: dental pulp stem cells

Giabicani Eloïse , Pham Aurélie , Sélénou Céline , Sobrier Marie-Laure , Linglart Agnès , Poliard Anne , Chaussain Catherine , Netchine Irène

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

hrp0095rfc10.6 | GH and IGFs | ESPE2022

Growth Hormone Deficiency in Adult Survivors of Childhood Brain Tumors Treated with Irradiation

Marie Baunsgaard Mette , Sophie Lind Helligsoe Anne , Tram Henriksen Louise , Stamm Mikkelsen Torben , Callesen Michael , Weber Britta , Hasle Henrik , Birkebæk Niels

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...