hrp0086s8.2 | Stem cells in endocrine organs | ESPE2016

Pluripotent Stem Cells in Endocrinology

Leibel Rudolph L.

The ability to differentiate human embryonal stem cells (hESC) and induced pluripotent stem cells (hiPSC) into virtually any cell type has enabled the creation of cellular models of diseases for which human cells are not readily accessible. Using these strategies, we have examined the molecular pathogenesis of monogenic forms of diabetes such as Wolfram’s syndrome and various MODYs using stem cell-derived insulin producing cells created from fibroblasts of patients with t...

hrp0082s7.1 | Controversies in the Surgical Management of DSD | ESPE2014

Evolution of Feminising Genitoplasty

Pippi-Salle J L

Great controversy exists in regard to the timing and technical alternatives to perform feminizing genitoplasty in children. Opponents to an early approach argue that the reconstruction can be risky in terms of clitoral/vaginal function therefore surgery should be postponed until the patient herself can sign an informed consent and be aware of potential risks as well as confirms the desire to undergo the procedures. Such negative feelings in regard to early reconstruction are b...

hrp0094s3.2 | Management of Rare Obesity | ESPE2021

Hypothalamic Obesity in Craniopharyngioma

Muller Hermann L. ,

Although craniopharyngiomas are of low-grade histological dignity and have good prognosis in terms of overall survival, survivors may suffer from devastating consequences caused by hypothalamic damage. Disease and/or treatment-related hypothalamic damage leads to disturbed hunger-satiety and thirst feelings, decreased energy expenditure, behavioral problems, disturbances of circadian rhythm, temperature dysregulation, and pituitary dysfunction. These patients are at great risk...

hrp0092ern1.1 | (1) | ESPE2019

Life Long Management of Childhood Craniopharyngioma

Müller Hermann L.

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

hrp0095p1-227 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary Hyperparathyroidism caused by a Mutation of the Vitamin D Receptor Gene

de Beldjenna Liliana Mejia de Beldjenna L

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

hrp0092s9.1 | Heterogeneity of Paediatric Diabetes | ESPE2019

Diversity in Monogenic Diabetes Management and Prognosis

Njølstad Pål Rasmus

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

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. ...