hrp0092fc8.1 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Hypothalamic AgRP Neurons Drive Endurance in Food-restricted Mice

Miletta Maria Consolata , Horvath Tamas L.

Diseases of food restriction, such as anorexia and bulimia nervosa, are psychiatric conditions with the highest mortality. It is not known how these disorders emerge and what determine mortality. Individuals with these disorders frequently engage in compulsive exercise. States of food restriction are associated with elevated activity of hypothalamic neurons that produce AgRP, which cells are crucial for feeding and can promote stereotypic behaviors.Here,...

hrp0092p2-49 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Treatment with Enzyme Replacement Therapy in a Girl with Severe Infantile Hypophosphatasia

Heldt Katrin , L`Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

hrp0089fc13.2 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Ablation of AgRP Neurons Decreases Survival in Activity-Based Anorexia Model

Miletta Maria Consolata , Horvath Tamas L

Anorexia Nervosa (AN) is an eating disorder characterized by severe hypophagia, high levels of physical activity, harsh weight loss and an intense fear of weight gain. It has the highest mortality rate among psychiatric illnesses and, due to the unknown underlying neurobiology, it is challenging to treat. Agouti-related protein (AgRP) neurons, which are localized in the arcuate nucleus in the hypothalamus, are both necessary and sufficient or feeding in adult animals. To uncov...

hrp0086p2-p147 | Bone & Mineral Metabolism P2 | ESPE2016

The Beneficial Effect of Cinacalcet on the Treatment of vitD Resistant Rickets

Akinci Aysehan , Dundar Ismaıl

Background: Patients with vitD resistant rickets (VDRR) due to vitD receptor (VDR) mutations have extreme rickets along with alopesia, severe hypocalcemia, hypophosfatemia secondary to hyperparathroidism and elevated 1,25(OH)2vitD. Although there is no standard therapy for this patients, long-term or intermittanat i.v. or high dose oral calcium suplementations are recommended to correct the hypocalcemia and secondary hyperparathyroidism. ...

hrp0082p3-d1-823 | Growth | ESPE2014

Three-Years Height Outcome During rhGH Therapy in Severe Short Subjects Affected by Skeletal Dysplasias

Massart F , Gnesi L , Baggiani A , Miccoli M

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...

hrp0097p2-14 | Growth and Syndromes | ESPE2023

Unmet needs and challenges experienced by patients with growth disorders and their caregivers: A patient expert view.

Thomas Marc , Harvey Jamie , Kocabicak Sergül

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

hrp0095p1-279 | Fat, Metabolism and Obesity | ESPE2022

Sex-specific POMC DNA methylation variability is associated with increased body weight

Lechner Lara , Wiegand Susanna , Leitão Elsa , Schröder Christopher , Jöckel Karl-Heinz , Nöthen Markus , Schmidt Börge , Horsthemke Bernhardt , Kühnen Peter

The increasing prevalence of obesity and associated comorbidities worldwide is a major problem for national health care systems. For this reason, it is of importance to gain knew knowledge about the central regulation of body weight and to identify factors which are leading to an increased individual risk to gain weight. Despite large genome weight associations studies and related genetic risk scores, the regulation of inter-individual body weight variability remains elusive. ...

hrp0095p2-158 | Growth and Syndromes | ESPE2022

Global recall of a growth hormone jet delivered device: experiences with children forced to switch from a needle free system to a growth hormone device with needle.

P. van Eck Judith , S. Renes Judith , J.C. Sas Theo , L.T. van den Akker Erica , C.M. van der Kaay Daniëlle

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

hrp0092fc13.2 | Adrenals and HP Axis | ESPE2019

Sexual Dimorphism in Cortisol Production and Metabolism Throughout Pubertal Development: A Longitudinal Study

van Keulen Britt , Dolan Conor , van der Voorn Bibian , Andrew Ruth , Walker Brian , Boomsma Dorret , Hulshoff-Pol Hilleke , Rotteveel Joost , Finken Martijn

Background: Sex differences in disease susceptibility might be explained by a sexual dimorphism in hypothalamic-pituitary-adrenal axis activity, which has been postulated to emerge during puberty. The aim of this study is to assess the contribution of pubertal development to sexual dimorphism in cortisol production and metabolism.Methods: Participants, born between 1995 and 1996, were enrolled from the population-based N...

hrp0092fc13.4 | Adrenals and HP Axis | ESPE2019

Biphasic Glucocorticoid Rhythm in One Month Old Infants: Reflection of a Developing HPA-Axis?

Hollanders Jonneke J. , de Goede Paul , van der Voorn Bibian , Honig Adriaan , Rotteveel Joost , Dolman Koert , Kalsbeek Andries , Finken Martijn J.J.

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...