Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Poster Category 1

Multisystem Endocrine Disorders

hrp0097p1-134 | Multisystem Endocrine Disorders | ESPE2023

Molecular and Phenotypic Expansion of Bardet-biedl Syndrome in Chinese Patients

Gao Shiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...

hrp0097p1-135 | Multisystem Endocrine Disorders | ESPE2023

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Gao hiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Li Zhiying , Sun Lianping , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...

hrp0097p1-136 | Multisystem Endocrine Disorders | ESPE2023

Endocrinopathies in Congenital Disorder of Glycosylation (CDG): Short stature and hypergonadotropic hypogonadism are the main endocrinological manifestations in two unrelated cases of PMM2-CDG.

Del Medico Giulia , Procopio Elena , Ferri Lorenzo , Annibalini Giosuè , Morrone Amelia , Stagi Stefano , Barbieri Elena

Introduction: PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Since glycoproteins are involved in every endocrine axis, PMM2-CDG patients have a high risk of developing endocrinopathies.Case report: We describe two 12 years-old female PMM2-CDG patients with severe short stature and no clinical sign of puberty. One patient showed low serum levels of insulin-like growth factor-1 (IGF-1) and IGF bind...

hrp0097p1-137 | Multisystem Endocrine Disorders | ESPE2023

Hypercalcitoninaemia in girl with pseudohypoparathyroidism type 1A.

Pankratova Maria , Pisareva Elena , Lyadova Olga , Chugunov Igor , Volevodz Nataliya , Bezlepkina Olga , Peterkova Valentina

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...

hrp0097p1-138 | Multisystem Endocrine Disorders | ESPE2023

An isolated hyperchlorhidrosis in a a patient with CA12 mutation.

Alkhalaf Abeer , Alfaraidi Haifa

Hyponatremia is a common electrolytes disorder in children. It can result from sodium chloride losses through GI, the kidneys, or in the sweat. Sodium chloride loss in the sweat can be caused by many different etiologies as cystic fibrosis, malnutrition, metabolic diseases, dermatological diseases and endocrine diseases. We are reporting a 6 months old boy, medically free, who had recurrent admissions to the PICU as a case of hyponatremic dehydration, with a sodium level of 11...

hrp0097p1-139 | Multisystem Endocrine Disorders | ESPE2023

Endocrine disorders in Inborn Errors of Immunity

NOH Eu-seon , Ri Kim Doo , Kim Min-sun , Yoon Cho Sung , Kim Yae-Jean

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Cent...

hrp0097p1-140 | Multisystem Endocrine Disorders | ESPE2023

Childhood cancer survivors endocrine late effects: one year retrospective observational study

P Kotanidou Eleni , Rengina Tsinopoulou Vasiliki , Giza Styliani , I Sakellari Eleni , Douma Stergianna , Antari Vasiliki , Palampougiouki Maria , Ioannidou Maria , Tragiannidis Athanasios , Hatzipantelis Emmanouil , Galli-Tsinopoulou Assimina

Objectives: Childhood cancer survivors (CCS) are a growing population group. Current oncology treatments have led to improved patient survival rates and an increase in late effects of treatment. Endocrine disturbances, such as pituitary insufficiency, thyroid dysfunction and obesity are the most common late endocrine effects of oncology treatments. The purpose of the study was to investigate the endocrine health of CCS and to record the prevalence of late endo...

hrp0097p1-141 | Multisystem Endocrine Disorders | ESPE2023

Bilateral adrenalectomy for Cushings syndrome in Infantile McCune Albright Syndrome(MAS)-A Case Report

Jayasundara Imalka , Atapattu Navoda , Siriwardhane Dinendra , Naotunna Chamidri , Hoole Thabitha

McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, café-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. We report a 6 months old baby who presented to Paediatric Endocrinology Unit due to elevated alkaline phosphatase levels while investigating for failure to thrive, hypotonia and global developmental delay. This child was...

hrp0097p1-331 | Multisystem Endocrine Disorders | ESPE2023

A patient with multi-locus imprinting disturbance and 46, XY hypovirilization

Ulgiati Fiorenza , Boros Erica , Vicinanza Alfredo , Driessens Natacha , Netchine Irene , Brachet Cécile , Heinrichs Claudine

Hypomethylation of the ICR1 in 11p15 is the epigenetic alteration causing Silver Russel Syndrome (SRS) in over 50% of the patients. It is reported that 7-38% of SRS patients have multi-locus imprinting disturbance (MLID). MLID has been suggested to result from maternal mutations affecting the acquisition or maintenance of imprints. We report on a patient with MLID who presented with features of SRS and Temple syndrome in addition to severe 46 XY hypovirilisation, pseudohypopar...

hrp0097p1-332 | Multisystem Endocrine Disorders | ESPE2023

Results from learner’s feedback on the use of free, globally accessible CME-accredited e-learning modules in Paediatric Endocrinology and Diabetes

Idkowiak Jan , van Wijngaard-deVugt Conny , van der Zwan Yvonne , Abu-Libdeh Abdulsalam , Kalaitzoglou Evangelia , Karabouta Zacharoula , Drop Sten , M Boot Annemieke , May Ng Sze

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

hrp0097p1-333 | Multisystem Endocrine Disorders | ESPE2023

Case Report: Carney Complex presenting as Bilateral Large Cell Calcifying Sertoli Cell Tumours Treated with Anastrozole.

Ghanim Reham , Prasanth D’Souza Ajay , Qazi Abid , Baldrighi Carla , Thalange Nandu

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed...

hrp0097p1-334 | Multisystem Endocrine Disorders | ESPE2023

Gut microbiota, a potential cause of higher insulin sensitivity in children with Prader-Willi syndrome

Zhong Mian-Ling , Cai Yu-Qing , Tang Yan-Fei , Dai Yang-Li , Jiang Yong-Hui , Ni Yan , Zou Chao-Chun

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

hrp0097p1-335 | Multisystem Endocrine Disorders | ESPE2023

High yield of genetic testing in various endocrine disorders

Shefer Averbuch Noa , Orenstein Naama , Phillip Moshe

Background: A specialized endo-genetic service was established in our clinic in January 2018. The service is multi-disciplinary and includes not only endocrinologists but also other physicians from different fields (e.g urology, orthopedics, imaging), nursing staff, psychologists, social workers, dieticians, genetic laboratories and bioinformaticians. The service is now run by a board-certified physician in both pediatric endocrinology and medical genetics.</p...

hrp0097p1-336 | Multisystem Endocrine Disorders | ESPE2023

Clinical presentation and incidence trends of paediatric endocrine conditions at a tertiary referral and teaching hospital, Nairobi, Kenya. a 14 year retrospective study from 2008 to 2021.

Wamalwa Phoebe , Mungai Lucy , Laigong Paul , Omar Anjum , Amolo Prisca

Background: There is significant disparity in pediatric endocrinology and diabetes care between developed countries and developing countries. Over the years nevertheless, the diagnosis and management of pediatric endocrine conditions has improved. However, there is paucity of data on clinical presentation and incidence trend amongst pediatric endocrine conditions in sub-Saharan Africa.Methods: A hospital-based retrospect...

hrp0097p1-337 | Multisystem Endocrine Disorders | ESPE2023

Occurrence of central hypothyroidism in children with isolated growth hormone deficiency

Mayer Judith , Schweizer Roland , Binder Gerhard

Background: A small subgroup of children with isolated growth hormone deficiency (IGHD) develop central hypothyroidism (CH) during GH treatment. Prognostic parameters are still unclear.Objective and hypothesis: Long-term evaluation of children with initial diagnosis of IGHD to identify those with an unmasking CH under GH treatment. IGHD was diagnosed in children with short stature, low height velocity, retarded bone age,...

hrp0097p1-338 | Multisystem Endocrine Disorders | ESPE2023

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Yoon Ji-Hee , Choi Yunha , Hwang Soojin , Lee Yena , Hye Kim Ja , Choi Jin-Ho , Yoo Han-Wook

Purpose: As the survival rate for pediatric cancers increases significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae of childhood cancer survivors after hematopoietic stem cell transplantation (HSCT).Methods: This study included 200 pediatric patients who underwent HSCT. Clinical and endocrinological f...

hrp0097p1-339 | Multisystem Endocrine Disorders | ESPE2023

Gastroenterological pathology in 7 patients with autoimmune polyglandular syndrome type 1

Frolova Elena , Kolodkina Anna , Zubkova Natalya , Sozaeva Leila , Usoltseva Olga , Tsvetkova Valeria , Anoushenko Anton

Background: APS type 1 is known to be associated with autoimmune gastroenterological pathology, which could be the very first and the worst-controlled manifestation of APS type 1. Treating these conditions in APS type 1 is debatable at present.Objective and hypotheses: We describe gastroenterological pathology in7 patients with APS type 1: clinical specifics, therapy, outcomes.Methods:</str...

hrp0097p1-340 | Multisystem Endocrine Disorders | ESPE2023

Long-Term Endocrine Complications of Medulloblastoma and The Effect of Growth Hormone Therapy on Final Height

Kelestemur Elif , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt Ilknur , Yavas Abali Zehra , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Introduction: Medulloblastoma is the most common central nervous system tumour in children representing, approximately 20% of childhood brain tumours. Cure can be achieved with surgery, chemotherapy and radiotherapy. However, disease survivors encounter long term endocrine complications including short stature due to growth hormone (GH) deficiency and spinal radiotherapy.Patients and Methods: We aimed to investigate long...

hrp0097p1-530 | Multisystem Endocrine Disorders | ESPE2023

Anthropometric, clinical, and molecular genetic characteristics of 42 patients with RASopathies

Yavas Abali Zehra , Bilge Geckinli Bilgen , Eltan Mehmet , Kahveci Ahmet , Gurpinar Tosun Busra , Helvacioglu Didem , Guran Tulay , Bereket Abdullah , Turan Serap

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...

hrp0097p1-531 | Multisystem Endocrine Disorders | ESPE2023

Clinical analysis of 193 patients with McCune-Albright syndrome in China based on literature review

Feng Xin , Yuan ke , Lu Huifei , Tu Haifeng , Zhu Jianfang , Fang yanlan , Yan Qingfeng , Wang Chunlin

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

hrp0097p1-532 | Multisystem Endocrine Disorders | ESPE2023

Prevalence of endocrinopathies in a cohort of patients with Rett syndrome: a double center observational study

Pepe Giorgia , Stagi Stefano , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Bossowski Filip , Skorupska Magdalena , Aversa Tommaso , Wasniewska Malgorzata

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65&pm;5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

hrp0097p1-533 | Multisystem Endocrine Disorders | ESPE2023

Utilizing ESPE e-learning to educate Pediatric Endocrinologists in Indonesia: Web-Series on Pediatric Endocrinology and Diabetes (WeSPED), an initiative of the European Society for Paediatric Endocrinology (ESPE) e-learning committee and the Indonesian Pediatric Society (Ikatan Dokter Anak Indonesia-IDAI).

Utari Agustini , Kalaitzoglou Evangelia , May Ng Sze , van Winjgaard-deVugt Conny , Faizi Muhammad , B. Pulungan Aman , M Boot Annemieke , Drop Stenvert

Introduction: The ESPE e-learning web-portal ( was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

hrp0097p1-534 | Multisystem Endocrine Disorders | ESPE2023

Endocrinal Disorders in Patients with Chronic Lung Diseases, Single-Center Experience

Draz Eman , Abdel Halim Radwa , Dawoud Ahmed , Shamma Radwa

Keywords: Endocrine, Non-cystic fibrosis bronchiectasis, Interstitial Lung Disease (ILD)Introduction: Recent evidence shows that there is association between different endocrinal disorders and the pathogenesis of chronic lung diseases. These disorders have an impact on quality of life and management of these diseases.Aim of work: Assess the correlation between two chronic lung dise...

hrp0097p1-535 | Multisystem Endocrine Disorders | ESPE2023

An unusual case of secondary amenorrhea in an adolescent.

Patki Rucha , Patel Anisha , O. Carpenter Thomas

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

hrp0097p1-536 | Multisystem Endocrine Disorders | ESPE2023

Development and implementation of a Pediatric Endocrinology Education Program in Francophone Africa(In French: Programme de formation en Endocrinologie et Diabètologie Pédiatrique pour l’Afrique subsaharienne Francophone [PEDAF])

Niang Babacar , Boiro Djibril , Bretones Patricia , Chetcha Bodieu Adèle , de Beaufort Carine , Ladjouze Asmahane , Léger Juliane , Mbono Betoko Ritha , Vassili Missambou Mandilou Steve , Sap Ngo Um Suzanne , von Oettingen Julia , Chanoine Jean-Pierre

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

hrp0097p1-537 | Multisystem Endocrine Disorders | ESPE2023

Effects of seasonal variability of insolation and COVID-19 pandemic isolation on vitamin D concentrations in children

Smyczyńska Joanna , Hilczer Maciej , Łupińska Anna , Pawelak Natalia , Lewiński Andrzej , Stawerska Renata

Introduction: Vitamin D may be considered as a hormone of prohormone of pleiotropic effects. Seasonal variability of insolation affects its synthesis in humans. In our latitude, vitamin D deficiency is widespread. In 2018, updated recommendations for vitamin D supplementation were published in Poland by Rusi&nacute;ska et al. In 2020, SARS-CoV-2 pandemic lockdown was introduced, with suggestions of protective anti-viral vitamin D role.<p class="ab...

hrp0097p1-538 | Multisystem Endocrine Disorders | ESPE2023

Endocrine Late Effects In Survival Children With High-Risk Neuroblastoma From Italian Tertiary Hospital

Mirra Giulia , Deodati Annalisa , Ubertini Graziamaria , Elisa Amodeo Maria , Antonietta De Ioris Maria , Mastronuzzi Angela , Cavallo Federica , Grossi Armando

Background: The treatment of high-risk neuroblastoma still represents a clinical challenge in pediatric oncology. About 50% of children survive after a multimodal treatment based on conventional and high dose chemotherapy, surgery, radiotherapy, differentiating treatment and immunotherapy.Aim: To evaluate endocrine long-term sequels in a pediatric cohort with high-risk neuroblastoma.Patient...

hrp0097p1-539 | Multisystem Endocrine Disorders | ESPE2023

Long Term Effects of Pediatric Hematopoietic Stem Cell Transplant on Endocrine Function

Ahmad Noman , Alghamdi Ali , Sobaihi Mrouge , Bayoumy Mohamed , Aleysae Nabil , Shahzad Muhammad , Ahmed Abdulatef , Aboelghar Hesham , Almahbosh Abdulmajid , Elhadidy Marwa , Heaphy Emily , Shaheen Saleh , Alzubaidi Maha , Alharbi Ali

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...