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 2

Growth and Syndromes

hrp0097p2-5 | Growth and Syndromes | ESPE2023

Variations in body composition, IGF1 and Cyclic glycine-proline (cGP) concentrations in breastfed vs formula fed infants during infancy period.

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma , Soliman Nada , Shaat Mona

Introduction: Breastfeeding is one of the most effective preventive measures of childhood obesity and many other chronic diseases. The effect of breastfeeding vs formula feeding in changing infant`s body composition remains unclear.Aim and Methods: The objective of this review is to update and summarize the recent literature (Pubmed, Google scholar, Scopus and Research gate in the past 10 years) on studies investig...

hrp0097p2-6 | Growth and Syndromes | ESPE2023

Maternal, placental and fetal IGF-1 and IGFBP in Obese pregnancies and the effect on fetal/infantile growth

Soliman Ashraf , Hamed Noor , Ahmed Shyama , Alyafei Fawzia , Alaaraj Nada , Soliman Nada

Introduction: Placental hormones can control the transfer of maternal nutrients to the fetus and modulate fetal and neonatal growth. Data about the interaction between maternal, placental and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research paper published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between maternal, placental and fetal/infant...

hrp0097p2-7 | Growth and Syndromes | ESPE2023

Survey of the Prevalence of Balance Issues in Turner Syndrome

Duncan Nicola , Todd Stacey , Smyth Arlene , Mason Avril , Kubba Haytham

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

hrp0097p2-8 | Growth and Syndromes | ESPE2023

Growing Tall and Staying Slim During a Pandemic: The Power of rGH

Pop Raluca-Monica , Aurelian Tiuca Robert , Maria Radulescu Flavia , Ionela Pascanu Maria

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...

hrp0097p2-9 | Growth and Syndromes | ESPE2023

A novel COL11A1 gene mutation in a patient with short stature mimicking Noonan syndrome

Kim Minji , Kim Min-Ji , Kun Cheon Chong

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...

hrp0097p2-10 | Growth and Syndromes | ESPE2023

Overgrowth in a 12-years-old boy with distal chromosome 16 duplication syndrome

Abbate Tiziana , Aversa Tommaso , Briuglia Silvana , Pepe Giorgia , Li Pomi Alessandra , Moschella Antonino , Paola Capra Anna , Wasniewska Malgorzata , Corica Domenico

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

hrp0097p2-11 | Growth and Syndromes | ESPE2023

GH-IGF-1 axis in PTPN11 and non-PTPN11 Noonan syndrome: Effects on growth and response to GH treatment

Jírová Barbora , Kodytková Aneta , Dušátková Petra , Koloušková Stanislava , Obermannová Barbora , Průhová Štěpánka , Šnajderová Marta , Šumník Zdeněk , Lebl Jan

Introduction: The mechanisms underlying short stature in Noonan Syndrome (NS) are poorly understood and may include inadequate GH secretion or action, decreased IGF-1 production, growth plate dysfunction, or other factors. In this retrospective study, we aimed to evaluate the function of the GH-IGF-1 axis in NS.Method: We took all patients with genetically proven Noonan syndrome among 1001 children and adolescents curren...

hrp0097p2-12 | Growth and Syndromes | ESPE2023

A novel heterozygous pathogenic variant in the HMGA2 gene causing Silver-Russell Syndrome, a case-report

Fisch-Shvalb Naama , Shefer-Averbuch Noa

Background: Genetic workup is negative in up to 40% of children presenting with clinical signs of Silver-Russell syndrome (SRS). HMGA2 variants causing SRS are rare, accounting for less than 1% of all reported cases.Case description: A 1y,8m-old boy was referred to our endocrinology institute due to severe failure to thrive (HAZ=-4.6 SDS, WAZ=-4.8 SDS) and feeding difficulties requiring nutritional support via P...

hrp0097p2-13 | Growth and Syndromes | ESPE2023

Transition of patients treated with growth hormone – case series

Shishkov Savi , Yaneva Zhaneta , Yordanova Nikolinka , Iotova Violeta

Introduction: Rare endocrine diseases are lifelong chronic conditions requiring constant medical follow up of the affected individuals. More common among them are patients with hypopituitarism, Turner syndrome (TS), and Prader-Willi syndrome (PWS). The age between adolescence and adulthood, despite being difficult to define by age category alone is an important time for the personal development. This time may be made more difficult if accompanied by a chronic ...

hrp0097p2-14 | Growth and Syndromes | ESPE2023

Unmet needs and challenges experienced by patients with growth disorders and their caregivers: A patient expert view.

Thomas Marc , Harvey Jamie , Kocabicak Sergül

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

hrp0097p2-15 | Growth and Syndromes | ESPE2023

Autosomal dominant inherited VUS 3 in the fibrillin 2 gene in a patient with tall stature

Geyrhofer Angelika , Hirtenlehner Sandra , Gencik Martin

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...

hrp0097p2-16 | Growth and Syndromes | ESPE2023

Clinical heterogeneity of Kabuki Syndrome in a cohort of pediatric Romanian patients

Manole Tiberiu , Radomir Lidia , Boboc Madalina , Procopiuc Camelia , Braha Elena , Gherlan Iuliana

Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterised by dysmorphic facies, poor developmental growth, hypotonia, skeletal abnormalities, intellectual disability, as well as systemic malformations. The pathogenic or likely pathogenic variants of the KMT2D or KDM6A genes are responsible for about 70% of the cases, while the rest are diagnosed based on clinical features consistent with KS. This paper reviews the clinical features, genetic t...

hrp0097p2-17 | Growth and Syndromes | ESPE2023

Efficacy and safety of recombinant growth hormone therapy in a girl with a Loeys-Dietz syndrome

Dyrka Kamil , Tomaszewska Andzelika , Balcerzak Justyna , Aniol Zuzanna , Niedziela Marek , Obara-Moszynska Monika

The Loeys-Dietz syndrome (LDS) is a genetic heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We present a 16.5-year-old girl with LDS2 caused by a mutation c.1582C>T (p.R5228C) in the TGFBR2 gene and treated with recombinant growth hormone (rGH) du...

hrp0097p2-18 | Growth and Syndromes | ESPE2023

Central precocious puberty in KBG syndrome due to a rare ANKRD11 variant

Blackburn James , Calder Alistair , Gaston-Massuet Carles , Gevers Evelien

Introduction: Establishing a clear diagnosis in patients with short stature can be challenging. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. We describe a patient with severe short stature with additional features on examination suggestive of KBG syndrome. A subsequent skeletal survey revealed radiological features suggestive of the diagnosis. In a...

hrp0097p2-19 | Growth and Syndromes | ESPE2023

Gonadotropin and Estradiol levels in Turner Syndrome: does an old dog teach new tricks?

Casalini Emilio , Fava Daniela , Alessia Angelelli , Patti Giuseppa , Napoli Flavia , Elsa Maria Allegri Anna , Gastaldi Roberto , Tedesco Caterina , Passarella Tommaso , Pistorio Angela , Maghnie Mohamad , Di Iorgi Natascia

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

hrp0097p2-20 | Growth and Syndromes | ESPE2023

Temple Syndrome in monozygotic twins with GH and GnRHa treatment in one twin.

Lattanzi Claudia , Wilson Louise , Gevers Evelien

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

hrp0097p2-21 | Growth and Syndromes | ESPE2023

Schaaf-Yang syndrome: Report of two cases

Rampi Gabriela , Berger Malena , Cecchi Griselda , Schneider Claudia , Juarez Peñalva Sofia , Forrester Andrea

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

hrp0097p2-81 | Growth and Syndromes | ESPE2023

Small for age gestational: puberty status, metabolism and growth of an epipeg-premeb clinical cohort at 7-9 years after onset.

Diez-Lopez Ignacio , Sarasua Miranda Ainhoa , Maeso Mendenz Sandra , Etxebarria Aurrekoetxea Maialen

Objective: Observe in children born SGA the relationship that the different variables have in the evolution towards metabolic syndrome, adrenarche and/or early/advanced pubarche or short stature and treatment with GH.Material and Methods:A retrospective observational study analyzing in SGA children at birth (n=103) and who are currently between 7-9 years of age, variables such as: sex; “Catch UP&r...

hrp0097p2-82 | Growth and Syndromes | ESPE2023

Adipocyte Hormones (Leptin- Adiponectin) Changes and Their Possible Effects on Metabolism, and Immunity During Malnutrition; New Mechanisms of Action.

Soliman Ashraf , Alaaraj Nada , Rogol Alan , Alyafei Fawzia

Background: Adipose tissue plays a central role in regulating whole-body energy and glucose homeostasis through secreting hormones that regulate multiple functions at both organ and systemic levelsObjectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between adipocyte hormones and the immune system in in...

hrp0097p2-83 | Growth and Syndromes | ESPE2023

Therapeutic compliance in 100 children treated with growth hormone

Iabbassen Malek , Bensalah Meriem , Haffaf Lounes , Bouchenna Amira , Khadidja Ouldkablia Samia

Context: The outcome of a treatment depends largely on the observance and compliance of the patient. Studies analyzing therapeutic compliance in chronic endocrine diseases are rare and especially controversial in childhood. Studies have reported poor adherence in 6-50% of cases.Patients and Methods: We studied treatment compliance in 100 children treated with subcutaneous growth hormone for growth hormone deficiency, int...

hrp0097p2-84 | Growth and Syndromes | ESPE2023

Two cases of Wiedemann-Steiner syndrome including novel gene mutation

Jung Soyoon

Wiedemann-Steiner syndrome (WSS) is a rare genetic disease characterized by growth retardation, developmental delay, intellectual disability, facial gestalt, and with or without congenital anomalies. The disease is diagnosed based on suggestive findings and mutation of KMT2A gene. I am presenting 2 cases of WSS including novel mutation of KMT2 A gene. Case1 A 10 years old girl visited the clinic due to short stature. She was 127.2cm (2 percentile, SDS -1.89),...

hrp0097p2-85 | Growth and Syndromes | ESPE2023

Challenges in treating delayed puberty in a girl with Marfan syndrome

Alharbi Mashael , Babiker Amir , Al Zaben1 Abdullah , Al Atawi Mohsen , Al Alwan Ibrahim , Al Dubayee Mohamed

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

hrp0097p2-142 | Growth and Syndromes | ESPE2023

Wolf-Hirschhorn syndrome: severe short stature and growth hormone deficiency

Ould Mohand Ouamer , Mekki Azzedine

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a 2:1 femaleto-male predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a « Greek warrior helmet appearance ».Case Report: A 5-year-old boy is brought to the pediatric endocrinology consultation for shor...

hrp0097p2-143 | Growth and Syndromes | ESPE2023

Improving detection of rare overgrowth syndromes referred to the endocrinology ward for analysis of acromegaly

van Essen Trui , Rosenberg Anna , de Herder Wouter , Jan van der Lelij Aart , de Graaff Laura

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

hrp0097p2-144 | Growth and Syndromes | ESPE2023

Beyond the surface: A Tale of Uncovering the True Diagnosis

Vijayan Roopa , Fox Krystal , Parmar Hannah , Kapoor Ritika , Buchanan Charles , Bhushan Arya Ved

Introduction: In a large series, approximately 65% of boys with delayed puberty have constitutional delay in growth and puberty (CDGP). We report an adolescent male who presented with delayed puberty and managed as presumed CDGP. Unexpected pubertal progression while receiving treatment made us question the diagnosis of CDGP.Case-report: A 15-year-old African adolescent male presented with delayed growth and puberty. He ...

hrp0097p2-194 | Growth and Syndromes | ESPE2023

Impact of Undernutrition and Short Stature on The Quality of Life (QOL) in Children and adolescents with Beta thalassemia Major (BTM)

Soliman Ashraf , Ahmed Shayma , Soliman Nada , Elalaily Rania , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Itani Maya

Introduction: Quality of life (QoL), comprises physical, psychological, environmental, and social aspects, is an index designed to measure the burden of chronic diseases and evaluate the treatment outcome. Thalassemia major (BTM) is a chronic disease in children that harms children QoL by interrupting physical function, emotional function, social function, and school function. ObjectivesAim: This study aims to identify t...

hrp0097p2-195 | Growth and Syndromes | ESPE2023

Morbid obesity revealing a rare genetic disease

Ould Mohand Ouamer , Mekki Azzedine

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25.000 births.Observation: A 15-year-old boy from a non-consanguineous ma...

hrp0097p2-196 | Growth and Syndromes | ESPE2023

A case of ACAN mutation: from onset to final stature.

Pagliero Federica , Bianco Carlo , Aquisti Giulia , Montafia Ilaria , Prodam Flavia , Rabbone Ivana , Bellone Simonetta , Partenope Cristina , Petri Antonella

Short stature is a frequent disorder in the pediatric population caused by multiple possible reasons. One of them it can be the mutation of the ACAN gene, with an autosomal dominant transmission, which also correlates with accelerated bone maturation and early osteoarthritis up to bone dysplasia. A 10.8-year-old patient came to our observation for poor statural growth (125.8 cm, -2.6 SDS) with a parental target of 150.4 cm +/- 8 cm (-2 SDS), on Triptorelin braking therapy, sin...

hrp0097p2-222 | Growth and Syndromes | ESPE2023

Height control using estradiol valerate considering chronological and bone age in patient with Marfan Syndrome

Kim Insung , Hwang JiHoon , Sung Juyoung , Eun Kim Sung , Lee Dong-Yun , Kim Min-Sun , Yoon Cho Sung , Jin Dong-Kyu , Seok Choi Doo

Introduction: Estrogen treatment can be used for pediatric patients with Marfan syndrome who wish to control the rate of excessive height growth. However, the appropriate timing of treatment initiation is controversial and studies were limited. In this study, the authors aimed to find out when the initiation of estradiol therapy is most appropriate for controlling height growth rate in patients with Marfan syndrome.Methods:</stro...

hrp0097p2-223 | Growth and Syndromes | ESPE2023

The Impact of Different Karyotypes on the Response to Growth Hormone Therapy in Girls with Turner Syndrome

El-Hawary Amany , Elsharkawy Ashraf , Gaber Amira , Salem Nanees

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.<stro...

hrp0097p2-230 | Growth and Syndromes | ESPE2023

Silver-Russell Syndrome: knowing how to think about it

Ould Mohand Ouamer , Drali Ouardia , Mekki Azzedine

Introduction: Silver-Russell Syndrome (SRS) is a rare genetic disease with an estimated prevalence of 1/100,000. It is characterized by the association of severe intrauterine growth retardation, postnatal failure to thrive, particular facial dysmorphism and asymmetry of the limbs. SRS is a pathology of parental imprinting. It is dependent on several imprinted genes, acting through different molecular mechanisms.Case Report:</stro...

hrp0097p2-231 | Growth and Syndromes | ESPE2023

Growth hormone treatment of short SGA children – experience of tertiary clinic in Bulgaria

Krumova Darina , Zlateva Tanya , Georgieva Ralitsa , Deyanova Yana , Iotova Violeta

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...