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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 3

Growth and Syndromes (to include Turner Syndrome)

hrp0092p3-151 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Follow-Up Study for a Boy with Floating–Harbor Syndrome Due to a de novo Novel Heterozygous SRCAP Mutation

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

hrp0092p3-152 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Linear Growth of Infants with Neonatal and Early Infantile Meningitis

Abdelmaguid Nadra , Tawfik Soliman Ashraf , Seleem Wail Said , Mohamed Rabie S , Elgharbawy Fawzia , Yassin Haytham

We analyzed the clinical data and the growth parameters of 50 newborns and young infants (age: 1.6 ± 0.9 months) admitted to our hospital (Al Wakhra Hospital, Department of Pediatrics, Doha, Qatar), between 1-1-2016 to 1-1-2017, with acute meningitis. Anthropometric measurements included weight, length, and head circumference. Length SDS (L-SDS) and body-mass-index (BMI) were calculated and recorded at every clinic visit, every 3 months for 8 ± 2 months.<p class=...

hrp0092p3-153 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Prevalence of Thyroid Dysfunction and Associated Autoimmune Disorders in Young Children with Down Syndrome (DS); A Cohort Study.

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down ...

hrp0092p3-154 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Hu Xuyun , WU Di , Li Yuchuan , Gong Chunxiu , Shen Yiping

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

hrp0092p3-155 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Turners Syndrome - Clinical Presentation, Genetics, Investigation and Management: A 10-Year Review

Elechi Hassan Abdullahi , Law James , Alexander Jacqui , Denvir Loiuse , Randell Tabitha , Sachdev Pooja

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects & Method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008-2017, n=28). Data is median (IQR) or mean±SD as appropriate.<p class...

hrp0092p3-156 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Status of Children and Adolescent Born Full Term Small-for-Gestational-Age in Korea: Data from the KNHANES-V (2010–2011)

Kim Ji Hyun , Kim Dong Ho , Lim Jung Sub

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

hrp0092p3-157 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bardet-Biedl Syndrome: A Case Series

Mendes Ana Raquel , Lopes Andreia , Lobo Ana Luísa , Ferreira Cristina , Isolina Aguiar Maria , Tavares Cláudia , Meireles Carla

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

hrp0092p3-158 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Variant of KAT6B Caused Say-Barber-Biesecker-Young-Simpson Syndrome

Weng Ying , Luo Xiaoping

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare and clinical well-described disease caused by de novo heterozygous mutations in KAT6B gene. Genitopatellar syndrome (GS) is also caused by the mutations of gene KAT6B and shares some common clinical symptoms with SBBYSS. The phenotypic spectrum caused by KAT6B is very broad that some patients cannot be classified as SBBYSS or GS. Herein, we report one de novo heterozygous KAT6B truncating variants c.5124delC (p.L17...

hrp0092p3-159 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Three Cases with Familial Short Stature: Leri-Weill Syndrome

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Manyas Hayrullah , Bekir Kutbay Yaşar , Koç Altuğ , Nuri Dündar Bumin

Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatme...

hrp0092p3-160 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Thyroid Dysfunction in the First Year of Life in Infants with Down syndrome: Linear Growth Over 4 Years

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohamed Shayma , Khalil Ahmed , adel ashraf

Background: Down syndrome (DS) is associated with thyroid dysfunction including both congenital and acquired hypothyroidism (HT) However, data about thyroid function in infants < 1 year with DS is scarce.The aim of this study was to investigate the prevalence of different thyroid dysfunctions in a cohort of infants with DS (n = 47) (22 M, 25 F) and follow up their linear growth and weight gain for an average of 4 years.<p cla...

hrp0092p3-161 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Effect of Thyroxine Treatment on Linear Growth and Weight Gain in Infants and Children with Down Syndrome (DS) and High TSH Versus Children with DS and Normal Thyroid Function: A Controlled Study

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

Background: Subclinical hypothyroidism is the most common in DS. Thyroxin administration to improve growth early in life is still controversial.We measured linear growth (BMI, height SDS (HtSDS) and weight gain/day ) in 3 groups of infants and young children with Down syndrome (trisomy 21) and divided them retrospectively into 3 groups according to their thyroid function. Group 1 (n = 25) with normal FT4 and TSH, group 2 (n = 20)...

hrp0092p3-162 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Acromesomelic Dysplasia of Maroteaux- An Extremely Rare Cause of Short Stature

Chawla Meghna , Datar Chaitanya

Introduction: Acromesomelic Dysplasia of Maroteaux (AMDM) is a cause of severe short stature (final height below120cm) with shortening of the middle and distal segments of the limbs, caused by homozygous or heterozygous mutations in the NPR2 gene which encodes natriuretic peptide receptor B on chromosome 9p13Case report: The proband was 4y6mo old, second born to 3rd degree consanguineous parents and presented ...

hrp0092p3-163 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrinological Evaluation of Male Patient with Floating-Harbor Syndrome –case Report

Okońska Maja , Myśliwiec Małgorzata , Chrzańowska Krystyńa

Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- is followed up in our Pediatric Endocrinology Outpatient Clinic ...

hrp0092p3-164 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Longitudinal Evaluation of Audiological Pattern in Turner Syndrome

Aversa Tommaso , Bruno Rocco , Santucci Simona , Messina Maria Francesca , Borrello Simona , Scarano Emanuela , Perri Annamaria , Tamburrino Federica , Valenzise Mariella , Alibrandi Angela , Mazzanti Laura , Wasniewska Malgorzata

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...

hrp0092p3-165 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Final Adult Height in a Patient with Turner Syndrome {46, X, i(Xq)} Treated with Growth Hormone for 10 Years Compared to her Normal Dizygotic Twin Sister and Mid-Parental Height

Soliman Ashraf , Hamad Noor , Alhumaidy Noora , Osman Ahmed Shayma , Adel Ashraf

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

hrp0092p3-166 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Treatment and Puberty in Patient with Pallister-Hall Syndrome

Pisareva Elena , Vitebskaya Alisa

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

hrp0092p3-167 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bloom Syndrome in 7-Year-Old Girl Diagnosed with Short Stature

Borysewicz-Sańczyk Hanna , Sawicka Beata , Cottrell Emily , Ladha Tasneem , Storr Helen , Bossowski Artur

Introduction: Bloom syndrome (BS) is a rareautosomal recessive disorder caused by mutations in the BLM gene, located on the long arm of the chromosome 15 (15q26.1). The typical symptoms of the disease are short stature, low birth weight, dysmorphic features including long, narrow face (dolichocephaly), micrognathism and prominent nose and ears. Other characteristic features include a rash following sun exposure, hyper-pigmented areas or cafe-au-lait s...

hrp0092p3-168 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Efficacy of Growth Hormone Treatment in a Patient with Chronic Granulomatous Disease, who Developed Acute Myeloid Leukemia after Bone Marrow Transplantation

Bossini Benedetta , Pellegrin Maria Chiara , Tawfik Sameh , Maximova Natalia , Barbi Egidio , Tornese Gianluca

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

hrp0092p3-169 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Schaaf-Yang Syndrome:Three Cases Report of MAGEL2 Variation and Literature Review

Xuefei Chen , Chaochun Zou

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

hrp0092p3-170 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Reevaluation of Congenital Growth Hormone Deficiency in Adulthood

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ghorbel Dorra , Kmiha Sana , Nadia Charfi , Rekik Nabila , Mnif Mouna , Hachicha Mongia , Kamoun Thouraya , Abid Mohamed

Introduction: Congenital growth hormone deficiency (GHD) is a non-exceptional cause of short stature. The objective of our study is to re-evaluate the clinical, biochemical, and evolutive features of congenital GHD in Tunisian south in adulthood.Subjects/Methods: We underwent a retrospective study of 48 patients over 16 years old affected by GHD over 28 years (1990- 2018).Resultats...

hrp0092p3-171 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Prevalence and Etiology of Short Stature in Children Between 2-4 Years of Age Born SGA in a Tertiary Care Hospital in a Developing Country

Chawla Meghna , Srinivas Priyanka , Deshpande Tushar

Small for gestational age (SGA) is an important cause of short stature in developing countries like India.Results: 97 children between 2-4 yrs of age who were born SGA were studied over six months and those whose height was below the third percentile on WHO growth charts were classified as short.The inter-group statistical comparison of distribution of categorical variables were tested using Chi-Square test and int...

hrp0092p3-172 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Pure Gonadal Dysgenesis with Partial Testicular Development Associated with Turner Syndrome with SRY

Hee Yi Kyung , Kim Eun Young , Han Heon Seok

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...

hrp0092p3-173 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Case of Wiedemann–Steiner Syndrome with Central Precocious Puberty

Aoyama Kohei , Yoshida Aya , Yamaguchi Naoya , Suzuki Atsushi , Tanaka Tatsushi , Saitoh Shinji , Mizuno Haruo

Background: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized with hypertrichosis cubiti, dysmorphic facial appearance (hypertelorism, thick eyebrows, and narrow palpebral fissures), psychomotor delay, and short stature. WSS is caused by a mutation in the KMT2A gene. The timing of secondary sexual characteristics in patients with WSS is not well known. To our knowledge, two patients (one boy and one girl) with W...

hrp0092p3-174 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Population Prevalence of Down's Syndrome and Cardiac Complications in South Korea: Based on National Health Insurance Service (NHIS)

Lee Na yeong , Cho Won Kyoung , Suh Byun-Kyu

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

hrp0092p3-175 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

McCune Albright Syndrome: Two Cases with Different Clinical Courses

Gjikopulli Agim

McCune-Albright syndrome consists of pigmented skin patches, polyostotic fibrous dysplasia, and a variety of endocrine disorders. Café au lait spots are characteristic skin lesions that reflect the onset of the somatic mutations in melanocytes during embryonic development. Polyostotic fibrous dysplasia is caused by activation of the parathyroid hormone receptor pathway in bone. Hormonal hypersecretion is the result of constitutive cyclic AMP production caused by ...

hrp0092p3-176 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Turner Syndrome with Neonatal Revelation: Knowing How to Think About It

Ould Mohand Ouamer , Fernane Leila , Sebar Khadidja , Lebane Djamil

Introduction: urner's syndrome (TS) is a rare genetic disorder related to the total or partial absence of an X chromosome, affecting 1/2 500 newborns of female sex. It associates almost steadily a delay in stature and ovarian failure with infertility.The other anomalies are inconstant: morphological features of variable intensity, associated malformations and an increased risk of subsequent acquired diseases.The diagnosis of certainty is established after ...

hrp0092p3-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine and Mammary Disorders in Girl with Cornelia De Lange Syndrome (Case History)

Gumeniuk Olga , Chernenkov Yurii , Petrova Ekaterina , Leonovich Anastasiia

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

hrp0092p3-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Effect of Growth Hormone Treatment on the Onset and Progression of Scoliosis in Children with Prader-Willi Syndrome

Grootjen Lionne , Donze Stephany , Damen Layla , Rutges Joost , Hokken-Koelega Anita

Context: Most children with Prader-Willi syndrome (PWS) develop scoliosis. Scoliosis has a prevalence of 80% in children with PWS older than 10 years, who were not treated with growth hormone (GH). GH is an approved treatment for children with PWS and improves psychomotor development and body composition. The onset and progression of scoliosis are generally associated with an accelerated growth velocity and GH treatment might cause accelerated growth. Sinc...