hrp0086p1-p895 | Thyroid P1 | ESPE2016

Thyroid Cancer is the Most Frequent Secondary Solid Tumour Following Allogeneic Stem Cell Transplantation in Childhood – A Single Centre Experience

Snajderova Marta , Keslova Petra , Sedlacek Petr , Formankova Renata , Riha Petr , Stary Jan

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

hrp0082p1-d2-32 | Autoimmune Endocrine Disease | ESPE2014

Papillary Thyroid Cancer After Hematopoietic Stem Cell Transplantation in Young Age

Snajderova Marta , Keslova Petra , Sykorova Pavla , Sedlacek Petr , Formankova Renata , Stary Jan

Background: Increasing number of survivors following hematopoietic stem cell transplantation (HSCT) leads to necessity to focus also on careful monitoring for late effects. High dose chemotherapy and total body irradiation (TBI) is used for conditioning regimen in many patients. Thyreopathies belong to the most frequent among late endocrinopathies.Objective: Aim of the study was to evaluate incidence of secondary thyroid malignancies after HSCT in young ...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0084p2-350 | Fat | ESPE2015

The Switch in Eating Behaviour in Infants with Prader–Willi Syndrome is Associated with an Increase in the Acylated:Unacylated Ghrelin Ratio: Results of a Longitudinal Study

Kuppens Renske , van der Lely Aart Jan , Delhanty Patric , Huisman Martin , Hokken-Koelega Anita

Background: Prader–Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in early childhood. An elevated, more unfavorable ratio between acylated:unacylated ghrelin (AG:UAG) may be involved in the underlying mechanisms of this switch.Objective and hypotheses: To assess the evolution of the appetite regulating hormones AG, UAG, and the AG:UAG ratio in infants with PWS a...

hrp0084p2-387 | Fat | ESPE2015

Biovascular Markers in Children with Kabuki Syndrome

Schott Dina , Kooger Berbel , Bierau Jorgen , Gerver Willem-Jan , Zimmermann Luc , Stumpel Constance

Background: Asymmetric dimethylarginine (ADMA) is an endogenous competitive inhibitor of endothelial nitric oxide synthase (NOS), which prevents synthesis of nitric oxide (NO). Low levels of NO are associated with endothelial dysfunction and an increased risk of cardiovascular disease. Diseases associated with high levels of ADMA include metabolic syndrome, chronic kidney disease, diabetes mellitus, insulin resistance, hyperthyroidism and multiple organ failure. Notable, GH tr...

hrp0084p2-403 | GH & IGF | ESPE2015

Homozygous Carriers of a Novel IGFALS Mutation are 1.5 SD Shorter than Heterozygous Relatives and Tend to have Lower Bone Mineral Density

Isik Emregul , van Doorn Jaap , Demirbilek Huseyin , Losekoot Monique , Wit Jan-Maarten

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...

hrp0084p2-467 | Growth | ESPE2015

Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease

Catli Gonul , Hwa Vivian , Loseqoot Monique , Ozyilmaz Berk , Edeer Neslihan , Dundar Bumin Nuri , Wit Jan Marteen

Background: STAT5B deficiency is characterized by severe postnatal growth failure, low IGF1, elevated levels of GH and prolactin, and immunodeficiency. To date, only ten patients with seven different mutations have been described.Objective and hypotheses: Describe clinical characteristics of a novel homozygous frameshift mutation in STAT5B.Results: A 17-year-old female was referred for proportionate short stature and prima...

hrp0084p2-508 | Pituitary | ESPE2015

The IGSF1 Deficiency Syndrome: An Unusual Case

Aisenberg Javier , Ghanny Steven , Chartoff Amy , Zidell Aliza , Pedro Helio , Joustra Sjoerd , Losekoot Monique , Wit Jan

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

hrp0095p1-509 | Growth and Syndromes | ESPE2022

Breast Satisfaction in adult women with Turner Syndrome – an international survey employing the BREAST-Q questionnaire

Idkowiak Jan , Smith Arlene , Mundy Lily , Wanaguru Amy , Gleeson Helena , Högler Wolfgang

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

hrp0092fc8.3 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Absence of Central Adrenal Insufficiency in Adults with Prader-Willi Syndrome

Rosenberg Anna , Davidse Kirsten , Pellikaan Karlijn , Donze Stephany , Hokken-Koelega Anita , van der Lely Aart Jan , de Graaff Laura

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...