hrp0084p3-947 | GH & IGF | ESPE2015

Medical and Biochemical Effects of Intervention Program in Patients with Poor Adherence to rhGH Treatment

Martinez Maria , Murillo Marta , Guerrini Estefania , Granada Maria Luisa , Bel Joan

Background: Optimising adherence to treatment in paediatric patients is important, since non-adherence may lead to incorrect interpretation of growth results and in the treatment course. It has been found that injection frequency is correlated with growth response and final height among children treated with rhGH.Objective and hypotheses: The main aim of this study was to evaluate IGF1 levels and growth velocity before and after a medical intervention in...

hrp0084p3-1253 | Programming & Misc. | ESPE2015

Newborns with Longest Telomeres are Big at Birth and Have Most Lean Mass: Not Most Fat: in Late Infancy

Silva Marta Diaz , Lopez-Bermejo Abel , Toda Lourdes Ibanez , de Zeguer Francis

Background: Telomere length at birth is a major determinant of telomere length at later ages, up into senescence. However, the prenatal setting of telomere length is poorly understood. Individuals born large are at lower risk for later-life disorders, such as diabetes, than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and is already present in infancy.Objective and hypotheses: To asse...

hrp0094p2-407 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Is the recommended dual therapy for transsexual boys harmless?

Rica Itxaso , Garcia Marta , Grau Gema , Vela Amaia , Rodríguez Amaia , Luisa Guadilla M.

Objective: To study the impact of dual therapy on BMD and Inhibin B in a group of transsexual male adolescents who initiate treatment with advanced pubertal development.Patients and methodology: Retrospective study of 16 male minors who initiated treatment (Triptorelin and later Testosterone) with complete pubertal development. Variables included: age, weight and height at baseline and at the last visit (calculated in SDS for assigned age and sex), BMD i...

hrp0094p2-313 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report

Ocello Laura , Ramponi Giulia , Maitz Silvia , Marco Santo Di , Adavastro Marta , Biondi Andrea , Cattoni Alessandro ,

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

hrp0094p2-316 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Determining factors of a good response to treatment with growth hormone for the first 2 years

de Arriba Antonio , Cancela Vanesa , Juan Alcon Jose , Beisti Anunciacion , Ferrer Marta , Labarta Jose Ignacio ,

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

hrp0097fc13.3 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

E Read Jordan , Guasti Leonardo , Paganoni Alyssa , Korbonits Marta , R Howard Sasha

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

hrp0097p1-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of new cutt-off points of the LHRH stimulation test in the diagnosis of central precocious puberty

Valls Llussà Aina , Murillo Vallés Marta , Martinez Couselo Silvia , Sol Ventura Paula

Introduction: Central precocious puberty (PPC) is defined by the appearance of sexual characters at a chronological age lower than -2.5DS of the average for the reference population. Diagnostic is clinical but the hormonal assessment is essential. Basal gonadotropin values are not enough for the diagnosis. Gonadotropin-releasing hormone (GnRH) stimulation tests evidence the activation of the hypothalamic-pituitary-gonadal axis, however there is controversy abo...

hrp0097p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Primary hyperparathyroidism in a pediatric patient with tuberous sclerosis

Lucia Feller Ana , Mariana Aziz , Victor Ayarzabal , Ciaccio Marta , Gisela Viterbo

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

hrp0097p2-284 | Late Breaking | ESPE2023

A new approach to estimate bone mineral density in pediatric subjects: Radiofrequency ecographic multi spettrometry (REMS). A comparison with DEXA.

Zoller Thomas , Pietrobelli Angelo , Ferruzzi Alessandro , Gatti Davide , Arrigoni Marta , Munari Stefania , Cavarzere Paolo , Antoniazzi Franco

Introduction: Limitations of the available imaging technique led the introduction of a new quantitative approach ultrasound-based for assessment of bone tissue in pediatric subjects. This new methodology use data from unfiltered radio frequency signals, collected during ultrasonographic acquisition of bone district of interest to estimate the bone mineral density. Advantages of this new technique include absence of radiation exposure, low cost of management an...

hrp0082p3-d2-850 | Growth (3) | ESPE2014

A Follow-up Study up to Adult Height of the Patients Included in the Phase iii Clinical Trial with the Biosimilar Human Recombinant GH (omnitrope®) on the Treatment of Spanish Children with GH Deficit

Borras Victoria , Siguero Juan Pedro Lopez , Martinez Gabriela , Corripio Raquel , Fernanadez Juan , Labarta Jose , Ferrer Marta , Cabrinety Nuria , Prieto Pablo , Ramon Marta , Bosch Jordi , Espino Rafael , Garcia Margarida Palla

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...