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59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 1

Fetal Endocrinology and Multisystem Disorders B

hrp0094p1-151 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Duration of Fasting Studies Required to Demonstrate a Cure for Patients with Focal Congenital Hyperinsulinism.

Truong Lisa , Reynolds Courtney , Thornton Paul S ,

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...

hrp0094p1-152 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Impact of gestational weight gain on methylation of imprinted genes in umbilical cord and its relationship with postnatal growth and metabolism

Mas-Pares Berta , Carreras-Badosa Gemma , Gomez-Vilarrubla Ariadna , Xargay-Torrent Silvia , Maroto Anna , Prats-Puig Anna , Puerto-Carranza Elsa , Zegher Francis de , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel ,

Introduction: Imprinted genes are critical for placental function and normal fetal growth and development. Very little is known about the impact of maternal obesity on imprinted genes and their role in postnatal growth and metabolism.Objectives: 1) To identify umbilical cord DNA methylation sites (CpG) associated with gestational weight gain (GWG); 2) to identify which of these CpGs lie within imprinting control regions ...

hrp0094p1-153 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Different faces of minipuberty in preterm twin girls

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Mondello Isabella , Pomi Alessandra Li , Wasniewska Malgorzata ,

Background: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

hrp0094p1-154 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

The Evaluation of Accuracy and Effectiveness of Newborn Screening for Congenital Adrenal Hyperplasia in Lithuania

Navardauskaite Ruta , Baneviciute Kornelija , Mockeviciene Giedre , Songailiene Jurgita , Grigalionienė Kristina , Smirnova Marija , Utkus Algirdas , Verkauskiene Rasa ,

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

hrp0094p1-155 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Pediatric Inflammatory Multisystemic Syndrome in Brazil: sociodemographic characteristics and risk factors to death

da Silva Oliveira Vinicius , Batista Soares Marcela , Jose de Morais Walison , Portugues Almeida Julia , Araujo Dias Lara , Abi Faical Barros Laura , Carvalho de Aquino Erika , Machado Pinto Renata ,

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

hrp0094p1-156 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Molecular and phenotypic profile of Alstrom syndrome in Chinese patients:results from a Chinese cohort

Zhang Qianwen , Ding Yu , Wang Yirou , Wang Xiumin , Fu Lijun ,

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

hrp0094p1-157 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Endocrine Monitoring and Outcome After Therapy In Childhood Survivors of Central Nervous System Tumours

Gilani Misha , McIntosh Diana , Murphy Dermot , Ronghe Milind , Sastry Jairam , Shaikh M Guftar , Kyriakou Andreas ,

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...

hrp0094p1-158 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Low adrenal androgen levels in patients with and without primary adrenal insufficiency in APECED (APS1)

Borchers Joonatan , Jaaskelainen Jarmo , Makitie Outi , Laakso Saila ,

Objective: Treatment of primary adrenal insufficiency (PAI) is often challenging in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1). In addition, electrolyte levels often fluctuate in APECED patients. This study aimed to describe adrenal steroid and electrolyte levels in patients with APECED.Design: This cross-sectional study included 43 Finnish patients with APECED (27 females, 7 under 18 ye...

hrp0094p1-159 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Clinical features and body mineral density in Italian patients with rapid onset obesity with hypoventilation, hypothalamic dysfunction, autonomic disregulation and neural tumor (ROHHADNET): a single center observational study

Angelelli Alessia , Fava Daniela , Thiabat Hanan F. , Guglielmi Davide , Ceradelli Francesca Lorenzini , Maiorano Nadia Gabriella , Marasini Lucia , Pistorio Angela , Ceccherini Isabella , Napoli Flavia , Iorgi Natascia Di , Maghnie Mohamad ,

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

hrp0094p1-160 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Congenital Central Hypothyroidism (CeH) due to a new variant in IGSF1 gene: clinical case of 2 siblings

Abbate Marco , Vincenzi Gaia , Stancampiano Marianna , Cangiano Biagio , Bonomi Marco , Barera Graziano , Vigone Maria Cristina ,

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...