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...

hrp0094p2-297 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The efficacy and safety of recombinant biosimilar growth hormone treatment in children with GHD and SGA: a Czech retrospective national longitudinal study

Snajderova Marta , Zemkova Daniela , Sumnik Zdenek , Zapletalova Jirina , Pomahacova Renata , Pruhova Stepanka , Cermak Jakub , Sadovska Barbora ,

Objectives: Recombinant growth hormone (rhGH) treatment helps to achieve a final height close to the parental growth potential in children with GH deficiency (GHD) and small for gestational age (SGA). Less is known about efficacy and safety of long term therapy with biosimilar rhGH. The aim of our study is to assess height gain and safety of therapy with biosimilar rhGH (Omnitrope®, Sandoz) in Czech children with GHD and SGA over the first three years of ...

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...

hrp0098p1-100 | Thyroid 1 | ESPE2024

Evaluating Malignancy in Pediatric Thyroid Nodules: The Effectiveness of the Bethesda System and TIRADS

Gazek Natalia , Suarez Mozo Melissa , Celeste Mattone Maria , Santana Olivares Jesus , Ciaccio Marta , Dujovne Noelia

Introduction: The risk of malignancy of pediatric thyroid nodules is determined according to the Bethesda System. Biopsy is performed by fine needle aspiration (FNA) based on ultrasonography (US) patterns. To identify suspicious nodules in adults, the Thyroid Imaging Reporting and Data System (TI-RADS) is widely used; however, its use in pediatrics is less common.Aim: To analyze the usefulness of the Bethesda system and ...

hrp0098p1-188 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

Childhood-onset craniopharyngioma: 26 years of experience at Children's Memorial Health Institute (CMHI)

Moszczyńska Elżbieta , Bogusz-Wójcik Agnieszka , Tutka Aleksandra , Baszyńska-Wilk Marta

Introduction: Childhood onset craniopharyngioma (CP) is a rare, low-grade (WHO I) embryonic malformation arising from remnants of the craniopharyngeal duct in the sellar and parasellar regions.Methods: This retrospective study included 167 children (53% boys, 47% girls) diagnosed with CP at the CMHI, Warsaw, Poland, from 1998 to 2024. We evaluated anthropometric data, hormonal test results pre- and post-surgery, brain ma...