hrp0094p2-475 | Thyroid | ESPE2021

Case study of 13- year-old boy suffering from papillary thyroid cancer in stage pT3aN1bMX

Bossowski Artur , Borysewicz-Sanczyk Hanna , Stożek Karolina , Dzięcioł Janusz , Czarniecka Agnieszka , Handkiewicz-Junak Daria , Jarząb Barbara

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

hrp0084fc14.2 | Puberty | ESPE2015

A Mutation in HS6ST1 Causes Self-limited Delayed Puberty

Howard Sasha , Poliandri Ariel , Cabrera Claudia , Barnes Michael , Wehkalampi Karoliina , Dunkel Leo

Background: Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, suggesting that inheritance is conferred by a small number of genes. However, the underlying genetic background is mostly unknown. By comparison, many genes have been identified where loss-of-function mutations lead to hypogonadotropic hypogonadism (HH). Despite likely overlap between the pathophysiology of delayed puberty and conditions of GnRH deficiency, few studies have examine...

hrp0097p1-495 | GH and IGFs | ESPE2023

Difficulties in interpreting insulin-like growth factor 1 (IGF-1) levels in short stature children born small for gestational age (SGA) treated with recombinant human growth hormone (rhGH) based on data from six clinical centres in Poland.

Glińska Marta , Walczak Mieczysław , Wikiera Beata , Pyrżak Beata , Majcher Anna , Paluchowska Monika , Gawlik Aneta , Antosz Aleksandra , Kusz Marcin , Bossowski Artur , Stożek Karolina , Wędrychowicz Anna , Starzyk Jerzy , Petriczko Elżbieta

Introduction: The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement. The IGF-1 concentrations significantly above the reference range may increase total the risk of possible side effects. High IGF-1 concentration is one of the reasons for rhGH dose reduction which affects the response to treatment.<st...

hrp0095p2-103 | Fat, Metabolism and Obesity | ESPE2022

Reduction of The Nutritional Diagnosis of Eutrophy Among Brazilian Adolescents, Evaluation From 2010 to 2021

Machado Pinto Renata , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Karoliny da Cunha Santos Viviane , Nascimento Fernandes Franco Nathália , Rodrigues Cardoso Jaína , Oliveira Alves Bruna

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

hrp0082p1-d2-216 | Reproduction (1) | ESPE2014

IGSF1 Variants in Boys with Familial Delayed Puberty

Joustra Sjoerd , Wehkalampi Karoliina , Oostdijk Wilma , Biermasz Nienke , Howards Sasha , Bernard Daniel , Maarten Wit Jan , Dunkel Leo , Losekoot Monique

Background: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein enriched in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed pubertal rise of testosterone despite normal timing of testicular growth. This syndrome was discovered in patients with CeH; therefore, it is presently unknown whether IGSF1 mutations also cau...

hrp0089rfc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Close Correlation between Salivary and Blood Steroids in Normal Boys: Salivary Testosterone Best Characterizes Male Puberty

Schwab Karl Otfried , Dickhuth Karoline , Mumm Rebekka , Stier Bernhard , Doerfer Juergen , Grueninger Dirk , Brichta Corinna Melanie , van der Werf-Grohmann Natascha , Wurm Michael , Krebs Andreas

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

hrp0086wg1.1 | ESPE Disorders of Sex Development Working Group (DSD) | ESPE2016

Biological Determinants of Gender Identity

Rosenthal Stephen

Background: Numerous studies from a variety of biomedical disciplines—genetic, endocrine, and neuroanatomical—have begun to shed light on the biological underpinnings of gender identity. Results of these studies support the concept that gender identity is not simply a psychosocial construct, but likely reflects a complex interplay of biological, environmental, and cultural factors.Objective and hypotheses: This review will highlight data from s...

hrp0094pl5 | Advances and Challenges in the Care of Transgender/Gender Diverse Youth | ESPE2021

Advances and Challenges in the Care of Transgender/Gender Diverse Youth

Rosenthal Stephen

In many parts of the world, increasing numbers of transgender/gender diverse (TGD) youth are seeking medical care to bring their physical sex characteristics into alignment with their gender identity—their inner sense of self as male, female, or somewhere on the gender spectrum. Compelling studies in the last decade have produced evidence supporting the concept that gender identity is not simply a psychosocial construct but likely reflects a complex interplay of biologica...

hrp0089p3-p182 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Dumping Syndrome in a Neonate with Esophagical Atresia Surgery

Gonzalez Angelica , Jaramillo Carolina , Espejo Jennyfer Monroy

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...