hrp0086p1-p824 | Syndromes: Mechanisms and Management P1 | ESPE2016

Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Masera Nicoletta , Pozzobon Gabriella , Selicorni Angelo , Ventura Alessandro

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

hrp0084fc-lb-6 | Late Breaking Abstracts | ESPE2015

PROP1 Mutations Cause Hypopituitarism by Disrupting the Transition of Pituitary Stem Cells to Differentiation

Millan Maria Ines Perez , Mortensen Amanda , Brinkmeier Michelle , Camper Sally

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

hrp0098p1-173 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Incidence of delayed puberty: A nationwide register-based study.

E. Thomsen Charlotte , A. Holmboe Stine , K. Hueg Trine , V. Bräuner Elvira , Aksglaede Lise , Juul Anders

Background: The average age at pubertal onset is declining worldwide which has received a lot of scientific and public attention. This secular trend is accompanied by an increasing number of children diagnosed with precocious puberty in many countries worldwide. However, there is less focus on the secular changes in the upper and lower boundaries (+/- 2 standard deviation (SD)) for pubertal onset and very little is known about whether a secular trend in the in...

hrp0092p3-316 | Late Breaking Abstracts | ESPE2019

Epidemiological and Socioeconomic CHANGES in the Child Population from Debut DM1 in this 21st Century

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Maria Isabel

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

hrp0086p2-p50 | Adrenal P2 | ESPE2016

Ovarian Cysts in a 46,XX Patient with Congenital Lipoid Adrenal Hyperplasia and with Spontaneous Puberty

Kopylova Irina , Orlova Elizaveta , Yarovaya Irina , Kareva Maria , Peterkova Valentina

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0098p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Gonadal function and outcome in 46, XX testicular/ovotesticular DSD – first round collection data from the I-DSD Registry study.

Sepich Margherita , Bertelloni Silvano , Tyutyusheva Nina , Lucas-Herald Angela , Mazen Inas , Cools Martine , Poyrazoğlu Şükran , Hiort Olaf , Döhnert Ulla , Neumann Uta , Phan-Hug Franziska , Atapattu Navoda , Nimali Seneviratne Sumudu , Markosyan Renata , Suco Sofía , Baronio Federico , Lichiardopol Corina , Verkauskas Gilvydas , Rita Stancampiano Marianna , Russo Gianni , Konrad Daniel , Lenherr-Taube Nina , E Hannema Sabine , Thankamony Ajay , Gazdagh Gabriella , G Peroni Diego , Faisal Ahmed S

Background: Testicular and ovo-testicular 46,XX-DSD are very rare conditions that have a variable presentation and often pose challenging questions regarding long-term outcome of gonadal function.Methods: Eligible cases were identified in the I-DSD Registry and centres were asked to update the clinical dataset to their last available assessment. The cases were categorised by assigned sex and age categories. Elevated and ...

hrp0084p1-34 | Diabetes | ESPE2015

Low Bone Mineral Density is Associated to Poor Glycemic Control and Increased Dickkopf-1 (DKK-1) Serum Levels in Children and Adolescents with Type 1 Diabetes

Faienza Maria Felicia , Delvecchio Maurizio , Fusillo Anna , Lonero Antonella , Zecchino Clara , Acquafredda Angelo , Piacente Laura , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: Decreased bone mineral density (BMD) and increased fracture risk have consistently been observed in type 1 diabetes mellitus (T1DM). The influence of T1DM on BMD seems to depend on gender or patientÂ’s age and to occur early after T1DM diagnosis. The mechanisms of decreased BMD in T1DM patients are still unknown.Objective and hypotheses: To investigate the serum levels of dickkopf-1 (DKK-1), a Wnt signaling inhibitor which decreases bone ...

hrp0082p1-d2-120 | Fat Metabolism & Obesity (1) | ESPE2014

RANKL and Osteoprotegerin Serum Levels in Obese Children and Adolescents

Faienza Maria Felicia , Vulpi Maria Rosaria , Piacente Laura , Ventura Annamaria , Lonero Antonella , Luce Vincenza , De Palma Fabrizia , Acquafredda Angelo , Zecchino Clara , Minenna Antonio , Delvecchio Maurizio , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: There is growing evidence of a correlation between fat and bone metabolism at both the clinical and molecular levels, although the systemic regulators have not been clearly identified. The receptor activator of nuclear factor kB ligand (RANKL) and its soluble decoy receptor, osteoprotegerin (OPG), are involved in bone resorption and vascular calcification. OPG levels has been related with insulin resistance in adult obese subjects.Objective a...

hrp0095rfc11.4 | Late Breaking | ESPE2022

Are GnRH agonists beneficial in final adult height after 8 years old? Data from a Portuguese National Digital Platform of idiopathic Central Precocious Puberty

Espada Filipa , Castro Carolina , Luisa Leite Ana , Galo Elisa , Antunes Ana , Castro Sofia , Robalo Brigida , Amaral Daniela , Ferreira Sofia , Limbert Catarina

Objective: Central precocious puberty (CPP) is a common condition in pediatric endocrinology practice. Gonadotropin-releasing hormone agonists (GnRHa) treatment is safe, but the real effect on final height and the ideal timing for treatment remains controversial. The purpose of the authors was to evaluate a nationwide representative group of CPP Portuguese girls treated with GnRHa, assess the effectiveness of treatment and the growth outcome before and after 8...