hrp0098p3-162 | Growth and Syndromes | ESPE2024

Three cases of rare bone dysplasias

Tvrda Petra , Lacik Michal , Porubova Petra , Plevova Pavlina , Hladikova Andrea , Grecmalova Dagmar

Introduction: Bone dysplasias are a group of disorders affecting the development and growth of bones and cartilage. These conditions can lead to various skeletal abnormalities, including short stature, deformities and problems with joint function. Skeletal dysplasias are generally caused by genetic mutations. There are over 400 different types of bone dysplasias, each with its specific set of symptoms and genetic causes. This study introduces three patient cas...

hrp0094p2-211 | Fat, metabolism and obesity | ESPE2021

The lockdown effects on a pediatric obese population in the COVID-19 era

D’Amico Federica , Cucinotta Ugo , Lugara Cecilia , Zirilli Giuseppina , Zema Attilio , Lonia Paolina , Wasniewska Malgorzata , Valenzise Mariella ,

Background: The social consequences of COVID-19 pandemic are universally known. In particular, the pediatric population is dealing with a radical lifestyle change. For some risk categories, such as overweight and obese children, the impact of home confinement has been greater than for others. Not only have the increased sedentary life, the wrong diet and social distancing stopped the chance of losing weight, but also worsened the general life conditions.<p...

hrp0089p1-p020 | Adrenals and HPA Axis P1 | ESPE2018

High DHEAS (HD) in Girls Determines Earlier Pubertal Maturation and Mild Hyperandrogenism throughout Pubertal Development

Pereira Ana , Merino Paulina , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....

hrp0082p2-d1-589 | Thyroid | ESPE2014

No Difference in Cognitive Development of Young Adults and Adolescents Affected by Congenital Hypothyroidism Compared to Their Sibling Controls Despite High Dose L-Thyroxin Treatment

Aleksander Paulina , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

hrp0097p2-234 | GH and IGFs | ESPE2023

Growth Hormone insensitivity (Laron syndrome): Report of a case.

Sanchez Urra Paulina , Linares Moreno Jeannette , Salas Cubillos Camila

Introduction: Primary growth hormone (GH) insensitivity is an autosomal recessive pathology caused by molecular defects in the GH receptor gene. In Chile there are 3 reported patients.Clinical case: Female patient, newborn of 37 weeks, due to delivery, adequate for gestational age. Son of non-consanguineous parents. Hospitalized at 12 hours of life in the neonatology unit due to persistent tremors, jaundice and septic sy...

hrp0098p3-15 | Adrenals and HPA Axis | ESPE2024

Cushing's disease in pediatrics. Case report.

Pino Consuelo , Sanchez Paulina , Linares Jeannette , Isabel Hernández María

Patient 10 years old, female, since 8 years old of excessive weight gain, facial changes, hirsutism, violaceous striae on trunk, abdomen and legs, acanthosis nigricans, dorsal cervical fat pad, muscle weakness and sleep disturbances. Menarche at 9 years old. Weight 110.4 kg, height 141.6 cm (+0.08 SD), BMI 55.1 (+4.67 SD). Initial study HBA1C 5.17%, glycemia 86 mg/dl DHEAS110 ug/dl, Total testosterone 39.19 ng/dl, SHBG10nmol/l, FAI 3.09, Androstenedione 2.5 ng/ml, 17 hydroxipr...

hrp0089p3-p338 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovarian Leydig Cell Tumor in an 8 Years Old Girl Misdiagnosed as Congenital Adrenal Hyperplasia Due to Elevated 17-Hydroxi-Progesterone

Arancibia Monica , Garcia-Fernandez Hernan , Martinez-Aguayo Alejandro , Baquedano Paulina , Poggi Helena , Garcia Hernan

Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.Clinical ca...

hrp0086fc11.4 | Thyroid | ESPE2016

Decreased Proportions of CD4+IL17+/CD4+CD25+CD127− and CD4+IL17+/CD4+CD25+CD127-FoxP3+T Cells in Children with Autoimmune Thyroid Diseases

Bossowski Artur , Moniuszko Marcin , Grubczak Kamil , Snight Paulina , Bossowska Anna , Diana Tanja , Kahaly George

Background: Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated.<p class="abst...

hrp0086rfc7.8 | Gonads &amp; DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

hrp0086p1-p457 | Fat Metabolism and Obesity P1 | ESPE2016

Premature Adrenarche and Metabolic Risk: Differences by Gender

Pereira Ana , Merino Paulina M. , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...