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

Growth and Syndromes

hrp0097p1-109 | Growth and Syndromes | ESPE2023

Unique proteomic signatures of Noonan Syndrome-associated LZTR1 variants detected by phosphopeptide analysis

Chatterjee Sumana , Bertola Débora , Agwu Chizo , Shapiro Lucy , Gaston-Massuet Carles , Metherell Louise , Maharaj Avinaash , Storr Helen

Background: Noonan syndrome (NS) is caused by variants in multiple genes regulating the RAS/MAPK signalling cascade. NS can present with growth failure associated with growth hormone insensitivity (GHI; low IGF-I and normal/elevated GH levels). Variants in LZTR1 lead to NS, although the interaction of LZTR1 with the RAS/MAPK and the GH-IGF-1 pathways remain to be elucidated.Objectives: To gain insights into the ...

hrp0097p1-110 | Growth and Syndromes | ESPE2023

Comparison of long-term height outcomes in pediatric patients with growth hormone deficiency receiving once weekly somatrogon with those of matched patients treated with once-daily somatropin in the Kabi/Pfizer International Growth Study (KIGS)

Paliwal Yuvika , Carlsson Martin , Zhang Richard , Lee Peter , Korth-Bradley Joan , Taylor Carrie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

hrp0097p1-111 | Growth and Syndromes | ESPE2023

The phenotypic spectrum of Kenny-Caffey type 2: a case series and literature review

Chen Xuefei , Zou Chaochun

Context: Kenny–Caffey syndrome (KCS) is a rare condition characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of the anterior fontanelle, ocular and dental anomalies, and variable hypocalcemia due to hypoparathyroidism. KCS is classified into two types according to its clinical features and inheritance pattern. KCS Type 2 (KCS2) is caused by mutations in FAM111A and is distinguished fr...

hrp0097p1-112 | Growth and Syndromes | ESPE2023

Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: Three-Year Growth Response

Muthuvel Gajanthan , Dauber Andrew , Alexandrou Eirene , Tyzinski Leah , Andrew Melissa , Hwa Vivian , Backeljauw Philippe

Background: Aggrecan (ACAN) is a proteoglycan found in the extracellular matrix of articular and growth plate cartilage. Animal studies have shown that mutations in the ACAN gene lead to premature hypertrophic chondrocyte maturation, causing accelerated cartilage ossification. Patients with ACAN deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation, as well as early-onset joint diseas...

hrp0097p1-113 | Growth and Syndromes | ESPE2023

Etiology of extreme tall stature and auxological cues at presentation

Toivakka Essi-Maria , Kärkinen Juho , J. Miettinen Päivi , Raivio Taneli , Hero Matti

Background: Tall stature is a frequent concern in pediatric endocrine clinics. However, no representative reports addressing etiology and auxological diagnostic cues at specialized healthcare presentation currently exist. We report the etiology of extreme tall stature and describe auxological cues indicative of a growth disorder.Methods: We identified 145 subjects (girls/boys: 78/67) with extreme tall stature from our in...

hrp0097p1-114 | Growth and Syndromes | ESPE2023

Sex-dimorphic associations of the Prader-Willi imprinted domain with prenatal and postnatal growth in healthy infants

Carreras-Badosa Gemma , Mas-Parés Berta , Gómez-Vilarrubla Ariadna , Puerto-Carranza Elsa , de Arriba Muñoz Antonio , Lafalla Bernard Olivia , Prats-Puig Anna , de Zegher Francis , Ibañez Lourdes , M Haqq Andrea , Bassols Judit , López-Bermejo Abel

Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.Methods:...

hrp0097p1-115 | Growth and Syndromes | ESPE2023

How are gestational age and size at birth related to pubertal timing and adult height? - Results from the GrowUp Gothenburg studies

Kalay Nazli , Skogastierna Carin , Swolin-Eide Diana , Holmgren Anton

Background and aim: How gestational age and size at birth are related to the timing of puberty and the adult height of an individual is not well known. Children born small, either preterm or small for gestational age (SGA), are known to be shorter than their peers during childhood. Both adult height and pubertal timing depends on both genetical and environmental factors, have changed over time with broad individual variations. Previous studies have shown confl...

hrp0097p1-116 | Growth and Syndromes | ESPE2023

Phenotypic differences in Noonan syndrome based on PTPN11 mutation status.

Alvarez Cabrerizo Ana , Navarro Moreno Constanza , González-Meneses López Antonio , Lucía Gómez Gila Ana

Introduction: Noonan syndrome (NS) is one of a group of diseases known as rasopathies, which share a common molecular substrate: alterations in the RAS-MAPK signaling pathway. NS is characterized by clinical and genetic heterogeneity. Up to 50% of cases are caused by variants in the PTPN11 gene, although more than 10 genes have been identified as involved in the pathogenesis of this disease with marked clinical overlap.Objectives...

hrp0097p1-117 | Growth and Syndromes | ESPE2023

Evaluating the Beneficial Role of Nutritional Intervention (NI) Trials in Improving Growth in Children with Beta Thalassemia Major (BTM)

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

Introduction: Patients with thalassemia have a high prevalence of malnutrition and low body mass index (BMI), and nutritional intervention studies are scarce.Aim: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to review nutritional intervention studies and their possible beneficial effect on children and adults with BTM.Results: 17 controlled and/o...

hrp0097p1-118 | Growth and Syndromes | ESPE2023

The effect of growth hormone therapy on body composition in girls with Turner syndrome – a 10-year follow-up.

Błaszczyk Ewa , Shulhai Anna-Mariia , Gieburowska Joanna , Gawlik Aneta

Background: Obesity and a thicker layer of subcutaneous adipose tissue are more common in Turner syndrome (TS), however, it is assumed that growth hormone (GH) treatment has beneficial effect on their body composition (BC). Objective: To investigate the effect of GH therapy on BC and its relation with metabolic syndrome components in girls with TS during a 10 year-follow-up.Patients and Methods: 21 girls with TS were des...

hrp0097p1-119 | Growth and Syndromes | ESPE2023

Clinical features and response to rhGH treatment in ten patients with heterozygous IGF1 variants

Punt Lauren , van der Kaay Danielle , van Setten Petra , Bocco Gianni , de Munnik Sonja , Losekoot Monique , van Duyvenvoorde Hermine , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

hrp0097p1-120 | Growth and Syndromes | ESPE2023

Personalized behavioral change technique intervention with TUITEK® patient support program to support caregivers of children treated with growth hormone in Korea

Wook Chae Hyun , Sil Oh Eun , van Dommelen Paula , Jang Kyungmi , Kyung Jung Mo , Hyang Cho Ja , Suh Junghwan , Eun Moon Jung , Koledova Ekaterina , Yang Yoo-Jin , Yoo Eun-Gyong

Background: Growth hormone (GH) treatment requires long-term self-management and optimized recombinant-human growth hormone (r-hGH) prescription. Patient support programs (PSPs) are vital in educating, providing personalised support to caregivers and enhancing patient care to achieve optimal growth outcomes. Nurse-led PSP calls using behavior change techniques (BCTs) and motivational interviewing principles have demonstrated a meaningful behavior change across...

hrp0097p1-121 | Growth and Syndromes | ESPE2023

First year reponse to growth hormone (GH) therapy is related to long term outcome in GH deficiency (GHD) but not in children born small for gestational age (SGA)

Hartmann Gabriele , Ertl Diana-Alexandra , Raimann Adalbert , Haufler Florentina , Gleiss Andreas , Ashraf Soliman , Mai Alqubasi , Tawa Olukade , Hamdy Ali , Mohamed Alturk , Nada Alaaraj , Noor Hamed , Shayma Ahmed

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

hrp0097p1-122 | Growth and Syndromes | ESPE2023

Near Adult Height in a 14-year-old boy with ACAN Deficiency treated with Growth hormone and Anastrozole

Bernardo Quintos Jose

Background: Aggrecan (ACAN) deficiency is a cause of autosomal dominant short stature with bone age advancement and premature growth cessation. There is limited data on the use of growth hormone (GH) treatment and aromatase inhibitor (AI) in this condition and their effect on adult height.Objective: To describe the improvement in predicted adult height (PAH), height SDS, and near adult height (NAH) in a 14-year-old boy w...

hrp0097p1-123 | Growth and Syndromes | ESPE2023

Aromatase Inhibitors May Increase the Risk of Cardiometabolic Complications in Adolescent Boys

Besci Özge , Damla Akçura Yağmur , Yüksek Acinikli Kübra , Akın Kağızmanlı Gözde , Demir Korcan , Böber Ece , Kır Mustafa , Abacı Ayhan

Introduction: Aromatase inhibitors (AIs) are increasingly used in children and adolescents to augment adult height. Given the potential risks of these drugs in women with breast cancer, detailed cardiovascular examinations in adolescents using these treatments are needed to ensure their safety in the pediatric group. The aim of this study was to investigate the effects AIs on cardiac morphology, functions and their relation to several metabolic parameters in a...

hrp0097p1-124 | Growth and Syndromes | ESPE2023

Caloric intake of 6 months-12 years old children with Prader Willi Syndrome under growth hormone treatment at a reference center.

Corripio Raquel , Couto Yolanda , Sánchez-Garvín Dunia , Pérez-Sánchez Jacobo , Garcia-Tirado Diana

Introduction: Prader-Willi Syndrome (PWS) is the most frequent cause of genetic obesity. It has been described that these patients require a reduction in caloric intake of 20- 40% compared to general population. Since 2000, with the approval of growth hormone (GH), the evolution of obesity has changed and it seems that caloric requirements could be different.Methodology: Observational, descriptive, cross-sectional and re...

hrp0097p1-125 | Growth and Syndromes | ESPE2023

Significant Linear Growth Impairment in a carrier of an interstitial deletion of *356-kb within cytogenetic band 22q11.21 with good response to growth hormone therapy.

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

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...

hrp0097p1-126 | Growth and Syndromes | ESPE2023

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

Bayrak Demirel Özge , Karakılıç Özturan Esin , Derya Kardelen Al Aslı , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

hrp0097p1-127 | Growth and Syndromes | ESPE2023

Effects and safety of growth hormone (GH) treatment in 6 children with pycnodysostosis

Renes Judith , Sas Theo , Clement-de Boer Agnes , Zwaveling-Soonawala Nitash , van der Kaay Danielle , Hokken-Koelega Anita

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

hrp0097p1-128 | Growth and Syndromes | ESPE2023

Delayed puberty as a core feature of POLE1: The Irish Experience

Reynolds Claire , Somers Eric , Ann Lynch Sally , Hawkes Colin , Leahy Ronan , M O'Connell Susan , Sherlock Mark

Recently, pathogenic biallelic variants in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE1), have been described in 15 individuals from 12 families, including members of 3 Irish families. These loss-of-function mutations cause POL&epsi; deficiency, thus impairing DNA replication. All reported cases share the same heterozygous intronic variant (c.1686þ32C>G) as part of a common haplotype, in addition to a different loss-of-function variant in the ot...

hrp0097p1-129 | Growth and Syndromes | ESPE2023

Qatar population-specific centile charts of placental weight to birth weight (PW/BW) ratio in 80 722 newborns born between the 37 th and 42 nd Weeks of Gestation: Relation to Gestational Age, and Gender.

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

Background: Data about placental weight (PW) in relation to birth weight (BW) and gestational age (GA) are lacking in Arab countries.Objectives: To report the specific centile charts of PW/BW ratio in a large cohort of mother/baby pairs (n= 80277) born between 37th and 42nd weeks of gestation in relation to neonatal growth characteristics and gender.Methods: Retrospective ...

hrp0097p1-130 | Growth and Syndromes | ESPE2023

The differences of clinical characteristics and effect of growth hormone treatment according to karyotype classification in Turner syndrome patients

soon Kim Hae , Eun Choi Jung , Won Huh Jung , So Min-Kyung , Jung Park Mi , Yu Jeesuk

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

hrp0097p1-131 | Growth and Syndromes | ESPE2023

Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation

Darneau Diane , Giabicani Eloïse , Netchine Irène , Pham Aurélie

Context: Silver-Russell syndrome (SRS) is a rare imprinting disorder responsible for foetal and postnatal growth restriction. It is a clinical diagnosis based on Netchine-Harbison clinical scoring system in patients presenting with ≥ 4 items out of 6. Some of the items in this score are not assessable until the age of two years, such as growth retardation or feeding difficulties and body asymmetry can be difficult to identify in the first months of life. Ch...

hrp0097p1-132 | Growth and Syndromes | ESPE2023

One-year growth response and cost-effectiveness to Human recombinant growth hormone in girls with Turner Syndrome: Results from a large Egyptian retrospective study

Ibrahim Amany , Atef Abeer , Badawi Nora , Yassin Sahar , Helmy Eatemad

FDA licensed the use of human recombinant growth hormone (hGH) in girls with Turner Syndrome (TS) in 1997 as short stature is a consistent feature of this syndrome.Objective: we aimed to assess our 1-year experience of treating short girls with TS, to calculate their growth velocity, to analyze the patients’ characteristics and to investigate the possible factors that might affect their height gain.Me...

hrp0097p1-133 | Growth and Syndromes | ESPE2023

A case of Noonan's syndrome and Combined Pituitary Hormone Deficiency: a new potential association?

Ubertini Graziamaria , D'aniello Francesco , Elisa Amodeo Maria , MIrra Giulia , Deodati Annalisa , Grossi Armando , Cristina Digilio Maria , Niceta Marcello , Cappa Marco

Noonan syndrome (NS) is an autosomal dominant, variably expressed, multisystem disorder with an estimated prevalence of 1 in 1000–2500. In 2001, PTPN11 was the first gene associated to Noonan syndrome; now, at least 20 other genes have been discovered especially in the RAS–MAPK signalling pathway. More recently, missense mutations in RIT1 have been reported as causative of NS. A six-years female patient was referred to our Hospital for short stature (<-2 sds) an...

hrp0097p1-306 | Growth and Syndromes | ESPE2023

Annual Hearing Screening in Children with Achondroplasia: Results from the First 4 Years in Glasgow.

Watt Adam , Kubba Haytham , Hunter Karen , Weale Corinne , McDevitt Helen , Mason Avril

Objectives: Hearing loss and ENT problems are frequently seen in children with Achondroplasia. Current international consensus guidance recommends audiological assessment before the age of one year and thereafter in childhood in presence of speech delay, hearing difficulties or features of middle ear effusion. In January 2019, we began a programme of annual hearing screening for children with Achondroplasia residing in Glasgow who attend the Complex Bone Clini...

hrp0097p1-307 | Growth and Syndromes | ESPE2023

A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature

Lee Mi-Seon , Lee Rosie , Lee Sang-Eun , Kwak Na-eun , Kwon Soon-Hak , Moon Jung-Eun

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

hrp0097p1-308 | Growth and Syndromes | ESPE2023

Birth Size and Postnatal Growth in Infants with Solitary Kidney: Does the disease affect Growth?

Soliman Ashraf , Elbaba Mustafa , Mehta Shital , Hamed Noor , Alaaraj Nada , Alyafei Fawzia , Ahmed Shayma

Introduction: Infants with solitary functioning kidney (SFK) may be prone to develop growth problems, which are not well represented in the literature.Objectives: The aim of this study was to evaluate birth size and postnatal growth in infants with SFK.Patients and Methods: We measured the weight, Weight SDS (WAZ), length SDS (LAZ), and weight for length SDS (WLZ) at birth and ever...

hrp0097p1-309 | Growth and Syndromes | ESPE2023

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Feng Biyun

Background: Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China and its association with CFC syndrome gene variants.Results: Twenty Chinese CFC patients, aged 0.6 to 9.5 years old, were included in...

hrp0097p1-310 | Growth and Syndromes | ESPE2023

Persistence to growth hormone treatment and clinical characteristics of paediatric patients with growth hormone deficiency: A retrospective database study

Mori Jun , Sato Yukihito , Dateki Sumito

Background: For many years, raising awareness on early referral to endocrinologist, early diagnosis, and treatment continuation for paediatric patients with growth hormone deficiency (GHD) has been continued in Japan. However, the current status of trends in age at diagnosis and of treatment continuation have not been fully clarified.Aim: The aim of this study is to estimate the persistence to growth hormone treatment (G...

hrp0097p1-311 | Growth and Syndromes | ESPE2023

Management of rhGH treatment in children with CKD in current clinical practice: a multicentric study

Labey Séverine , Hogan Julien , Salomon Rémi , Ulinski Tim , Boizeau Priscilla , Carel Jean-Claude , Simon Dominique

Introduction: Growth retardation < –2 SDS is frequently observed in children with chronic kidney disease (CKD) and is a marker of severity of CKD. Recombinant human growth hormone (rhGH) treatment has been approved since 1995 in CKD patients. The aim of this study was to describe the growth outcomes and treatment patterns in children with congenital CKD.Methods: Patients were recruited from transplantation recor...

hrp0097p1-312 | Growth and Syndromes | ESPE2023

Associations between weight-related anthropometric measurements and occurrence of breast development, pubic hair and menarche

S. Bruserud Ingvild , Roelants Mathieu , B. Júlíusson Peacute;tur

Background: The timing of puberty is influenced by different factors, one of which is body composition. The aim of the current study was to investigate if anthropometric indicators of body composition, body mass index(BMI), waist circumference(WC), subscapular skinfold(SSF) and body fat percentage(BF%) were differentially associated with occurrence of breast development, pubic hair and menarche in Norwegian girls.Methods:</strong...

hrp0097p1-313 | Growth and Syndromes | ESPE2023

Genetic aetiology of short stature in children from consanguineous families from Kurdistan, Iraq

Anne Amaratunga Shenali , Hussein Tayeb Tara , Dusatkova Petra , Drabova Jana , Elbova Lenka , Pruhova Stepanka , Lebl Jan

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

hrp0097p1-314 | Growth and Syndromes | ESPE2023

A case report of Noonan-like syndrome and refractory treatment for increasing growth

Denaite Dovile , Navardauskaite Ruta , Tomas Preiksa Romualdas

Introduction: Noonan syndrome-like syndrome with loose anagen hair (NSLH) is a RASopathy due to a missense mutation in the SHOCK2 gene. NSLH is distinguished by facial dysmorphisms, growth retardation, various neurocognitive impairment, and cardiac defects. Extremely short stature is frequently observed in patients with SHOC2 gene mutation. Treatment by growth hormone (GH) due to moderate GH deficiency or IGF-1 due to GH insensitivity may be insufficient. We r...

hrp0097p1-315 | Growth and Syndromes | ESPE2023

Which Method is More Effective in Predicting Adult Height in Pubertal Girls Treated with Gonadotropin-Releasing Hormone Agonist?

Akın Kağızmanlı Gözde , Deveci Sevim Reyhan , Besci Özge , Yüksek Acinikli Kübra , Hazal Buran Ayşen , Mert Erbaş İbrahim , Böber Ece , Demir Korcan , Anık Ahmet , Abacı Ayhan

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

hrp0097p1-316 | Growth and Syndromes | ESPE2023

The effects of androgen treatment on growth in patients with 5-α-Reductase type 2 deficiency

Kwon Ahreum , Kim Sujin , Seo Junghwan , in Lee Hae

Introduction: 5-α-Reductase type 2 deficiency (5αRD2) is 46,XY disorder of sex development that requires androgen treatment for normal male external genitalia development. Despite concerns regarding precocious puberty and stunted growth associated with androgen treatment, limited research has been conducted on its effects on individuals with 5αRD2. The present study aims to evaluate the impact of androgen treatment on bone age (BA) and height...

hrp0097p1-317 | Growth and Syndromes | ESPE2023

Growth hormone treatment in a case of Melnick-Needles Syndrome

Kim Yoonsoo , Rye Kim Jeong , Yu Jeesuk

Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the d...

hrp0097p1-318 | Growth and Syndromes | ESPE2023

15-year experience with the IGF1 generation test in the Netherlands

Kruijsen Anne , de Groote Kirsten , Punt Lauren , van Trotsenburg Paul , Pijnenburg-Kleizen Karijn , Bocco Gianni , Berkenbosch Lizanne , van Setten Petra , Claahsen - van der Grinten Hedi , van der Kaay Danielle , Schott Nina , van Tellingen Vera , van Mill Edgar , van der Heyden Josine , Brandsma Annelies , Hendriks Yvonne , Losekoot Monique , van Duyvenvoorde Hermine , Hokken-Koelega Anita , Renes Judith , Maarten Wit Jan , de Bruin Christiaan , Joustra Sjoerd

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

hrp0097p1-319 | Growth and Syndromes | ESPE2023

Progressively impaired prepubertal growth in children with APECED

Saari Viivi , Alanko Venla , Holopainen Elina , Mäkitie Outi , Laakso Saila

Background: Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; APS-1) is a disorder arising from mutations in the autoimmune regulator (AIRE) gene, that lead to the development of circulating autoreactive T-cells and deficiency of regulatory T-cells. Multiple manifestations, such as primary adrenocortical insufficiency, and their treatments may disturb growth in children with APECED. However, no previous data on prepubertal growth in child...

hrp0097p1-320 | Growth and Syndromes | ESPE2023

Achondroplasia: a novel deep intronic variant of the FGFR3 gene, c.1075 + 95C>G, disrupts mRNA splicing

Hogeabri Dorna , Schwarz Stephanie , Oehl-Jaschkowitz Barbara , Gawai Monika , Zemlin Michael , Rohrer Tilman

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

hrp0097p1-321 | Growth and Syndromes | ESPE2023

Questionnaire concerning the process of puberty induction among patients with Turner Syndrome

Więcek Małgorzata , Kempińska Wiktoria , Smyth Alene , Gawlik Aneta

Introduction: Characteristics of the Turner syndrome (TS) include congenital gonadal dysgenesis resulting in disturbed sexual maturation. Only 20 % of patients with TS menstruate spontaneously. In most cases pharmacological puberty induction is required to maintain female secondary sex characteristics and menarche. Preferred age of start of estrogen replacement is between 11 and 12 years with gradual increase of dose during 2–3 years.<p class="abstex...

hrp0097p1-322 | Growth and Syndromes | ESPE2023

Postnatal Linear Growth Among Very Low Birthweight Infants (<1.5kg) in the first 2 years of life

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

Background: Very Low birthweight (LBW) is defined as birthweight below 1.5 kg) and compared to AGA they are reported to be at a higher risk to develop slow postnatal growth outcomes.Objectives: To describe the postnatal growth of 120 VLBW newborns who had birth weight < 1.5 kg. linear growth trajectories of VLBW infants were compared with normal infants (WHO curves) during the first 24 months of life.<p class="abs...

hrp0097p1-323 | Growth and Syndromes | ESPE2023

A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency

Tseretopoulou Xanthippi , Lucas-Herald Angela , Chen Jiajia , Bachega Tania , Charmandari Evangelia , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Harvey Jamie , R. Hoffman Andrew , Horikawa Reiko , Johannsson Gudmundur , Jorge Alexander , S. Miller Bradley , Roehrich Sebastian , Sävendahl Lars , Vitali Diana , Wajnrajch Michael , Ching Chen Suet , Faisal Ahmed Syed

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

hrp0097p1-324 | Growth and Syndromes | ESPE2023

PROGRES, a multi-country, non-interventional, prospective study of patients receiving human growth hormone treatment under routine clinical care: Study update

Geffner Mitchell , Maniatis Aristides , Ibañez Lourdes , La Torre Daria , Huang Carol , Darendeliler Feyza , Dattani Mehul , Maghnie Mohamad , Phillip Moshe , Horikawa Reiko , Gomez Roy , Viswanathan Shilpa , Carlsson Martin , Wajnrajch Michael

Objectives: Children with growth hormone deficiency (GHD) are usually treated with once-daily injections of recombinant human growth hormone (rhGH). Somatrogon is a long-acting rhGH (LAGH) approved in the EU and other countries for once-weekly treatment of children with short stature. The Pfizer Registry of Outcomes in Growth hormone RESearch (PROGRES) study will assess the long-term safety and effectiveness of once-weekly somatrogon and once-daily rhGH prepar...

hrp0097p1-325 | Growth and Syndromes | ESPE2023

Clinical and Genetic Analysis of Ten Short Stature Patients with ACAN Variants

Binbin Cai , Hong Chen , Ruimin Chen

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...

hrp0097p1-326 | Growth and Syndromes | ESPE2023

Sex Non-Specific Growth Charts and Potential Clinical Implications in the Care of Transgender Youth and Rare Disease Populations

Bomber Eric , Golob Laura , Miller Bradley , Addo Yaw , Rogol Alan , Jaber Mutaz , Sarafoglou Kyriakie

Background: Although Centers for Disease Control and Prevention (CDC) and World Health Organization growth charts, dichotomizing “girls versus boys,” are commonly used, scenarios exist where this binary approach may not be ideal. These scenarios include care for transgender youth undergoing transitions, non-binary youth, and rare diseases where sex-specific growth chart creation is impractical. There is a need for growth charts and z-score calculat...

hrp0097p1-327 | Growth and Syndromes | ESPE2023

Growth results after GH treatment of children with juvenile idiopathic arthritis

Noumi Mustapha , Akretche Nora , Boukari Rachida

Introduction: Short stature is a very common complication of juvenile idiopathic arthritis (JIA). Chronic inflammation, long-term corticosteroid therapy, hepatic impairment and malnutrition can reduce the biological effects of IGF-1 and GH. Growth hormone (GH) treatment may improve height growth outcomes in patients with severe juvenile idiopathic arthritis (JIA). The aim of the study was to assess the response to growth hormone (GH) treatment in patients with...

hrp0097p1-328 | Growth and Syndromes | ESPE2023

CEP57 variant associated with MVA2 syndrome in two Moroccan brothers

Recupero Salvatore , Mascaro Rossella , Palmoni Monica , Meroni Silvia , Bucolo Carmen , Finamore Martina , Ferri Chiara , Rizzi Alessia , Lia Magnacavallo Anna , Grazia Patricelli Maria , Zuffardi Orsetta , Barera Graziano , Pozzobon Gabriella

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

hrp0097p1-329 | Growth and Syndromes | ESPE2023

Long-term (9-year, 8-year and 3.5-year) follow-up of treatment with rhGH in three patients with Noonan syndrome due to PTPN11 mutation and confirmed growth hormone deficiency.

Kowalik Dorota , Stawerska Renata , Lewiński Andrzej

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

hrp0097p1-330 | Growth and Syndromes | ESPE2023

A complex phenotype due to the overlap of two rare conditions: miller-mckusick-malvaux (3M) and chung-jansen syndrome

Chiarito Mariangela , Giordano Mara , Mellone Simona , Urbano Flavia , Felicia Faienza Maria

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

hrp0097p1-505 | Growth and Syndromes | ESPE2023

Changes in carbohydrate and lipid metabolism during 10-year follow-up of patients with Turner syndrome treated with growth hormone.

Błaszczyk Ewa , Shulhai Anna-Mariia , Gieburowska Joanna , Gawlik Aneta

Background: Disorders in carbohydrate and lipid metabolism are more common in girls with Turner syndrome (TS) than in general population. Metabolic disorders have been identified as risk factors for the development of cardiovascular diseases. Additionally, TS patients are usually treated many years with growth hormone (GH) that affects the parameters of carbohydrate-lipid metabolism. Therefore cardiovascular risk factors should be monitored in TS girls.<p ...

hrp0097p1-506 | Growth and Syndromes | ESPE2023

Characteristics, effectiveness and safety data for patients with growth failure treated with recombinant IGF-1 and achieving adult or near-adult height: results from the Increlex® Global Registry

Bang Peter , Ramón Krauel Marta , Maghnie Mohamad , Woelfle Joachim , Sert Caroline , Perrot Valérie , Pennestri Daniele , Polak Michel

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0097p1-508 | Growth and Syndromes | ESPE2023

Placental measurements in relation to gestational age (GA) and fetal growth Characteristics (SGA, AGA and LGA) in a large Cohort in Qatar(n= 80722).

Alyafei Fawzia , Soliman Ashraf , Olukade Tawa , Alqubaisi Mai , Alaaraj Nada , Ali Hamdy

Background: Epidemiological studies have shown associations between placental weight (PW) and perinatal and postnatal linear growth and weight gain.Objectives: To report trimmed placental weight (PWT) and evaluate their association with birth weight (BWT), and gestational age (GA) in a large cohort of mother/ baby pairs in Qatar. (n= 80722).Methods: Retrospective data anal...

hrp0097p1-509 | Growth and Syndromes | ESPE2023

Significant height response to growth hormone treatment in subjects with Wiedemann Steinert syndrome.

Le Potier Emma , Donzeau Aurélie , Rouleau Stephanie , Bouhours-Nouet Natacha , Levaillant Lucie , Peborde Marie , Poisson Audrey , Alcina Mailys , Coutant Regis

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

hrp0097p1-510 | Growth and Syndromes | ESPE2023

Tuberous sclerosis complex 1 (TSC1) deficiency leads to increased proliferation of adipose progenitor cells – case report and in vitro studies

Garten Antje , Hentschel Julia , Richter Sandy , Kiep Henriette , Arelin Maria , Platzer Konrad , Merkenschlager Andreas , Kiess Wieland , Mayer Steffi , Abou Jamra Rami , Le Duc Diana , Gerthe Kerkhof , Anita Hokken-Koelega

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

hrp0097p1-511 | Growth and Syndromes | ESPE2023

Pathway to assess severe primary IGF-1 deficiency diagnosis by using the IGF-1 generation test in a real-life setting: data from the Global Increlex® Registry

De Schepper Jean , Bossowski Artur , Argente Jesús , Sert Caroline , Perrot Valérie , Pennestri Daniele , Bang Peter

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

hrp0097p1-512 | Growth and Syndromes | ESPE2023

Growth and final height of adolescents with systemic juvenile idiopathic arthritis in the transitional age: a monocentric case series

Cristina Maggio Maria , Corsello Giovanni

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

hrp0097p1-513 | Growth and Syndromes | ESPE2023

Efficacy of Once-Weekly Treatment for Paediatric Growth Hormone Deficiency: A Systematic Literature Review and Indirect Treatment Comparison

Schaible Kassandra , Huelin Rachel , Loftus Jane , Nijher Monica , Neupane Binod , Cappelleri Joseph , Fahrbach Kyle

Introduction: Paediatric growth hormone deficiency (pGHD) is a rare disorder characterised by inadequate secretion of growth hormone (GH). Daily injections of somatropin, a recombinant human GH, is the standard of care. Once-weekly GH treatments have been recently developed, but no direct comparisons have been published. This study examined the clinical efficacy of the available once-weekly treatments vs. daily treatment for pGHD via a systematic literature re...

hrp0097p1-514 | Growth and Syndromes | ESPE2023

Addition of genetic workup in children with isolated short stature to improve the diagnostic yield for growth hormone treatment

Martinez de Lapiscina Idoia , Zürcher Matthias , Saner Christoph , E. Flück Christa

Introduction: Short stature is a common finding that affects per definition about 3% of the population. Isolated, severe short stature may be treated successfully with recombinant human growth hormone (rhGH). Currently, rhGH is offered to short children with specific disorders or biochemically proven growth hormone deficiency (GHD). However, biochemical testing for GHD is artificial and therefore controversial. Adding genetic testing may improve the diagnostic...

hrp0097p1-515 | Growth and Syndromes | ESPE2023

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

Orlandini Eleonora , Montanari Francesca , Severi Giulia , Tamburrino Federica , Schiavariello Concetta , Perri Annamaria , Cesarini Sofia , Soliani Luca , Scarano


CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

hrp0097p1-516 | Growth and Syndromes | ESPE2023

Analysis of Pubertal Height Gain after Menarchal girls in Korea

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Purpose: Both timing of menarche and growth patterns have changed with time. Menarche is supposed to important role in pediatric linear growth. This study is aimed to investigate the relationship between the timing of menarche and pubertal growth, specifically to analyze when menarche occurs related to the pubertal growth spurt, and how the pubertal height gain is related to the timing of menarche.Method: From January 20...

hrp0097p1-517 | Growth and Syndromes | ESPE2023

Bridging the gap between short stature and metabolic alterations in children born small for gestational age: an exploratory study

Rodari Giulia , Citterio Valeria , Collini Valentina , Risio Alessandro , Profka Eriselda , Giacchetti Federico , Arosio Maura , Mantovani Giovanna , Giavoli Claudia

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

hrp0097p1-518 | Growth and Syndromes | ESPE2023

Outcomes of growth hormone treatment in children with Prader Willi Syndrome over a 30-year period at the Children’s Hospital at Westmead, New South Wales Australia

Gamage Dilhara , Chan Albert , Maguire Ann , Srinivasan Shubha , Ambler Geoffrey , Hi Cho Yoon

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is d...

hrp0097p1-519 | Growth and Syndromes | ESPE2023

Evaluation of Cognitive Profiles in a cohort of patients with Turner Syndrome.

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

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...

hrp0097p1-520 | Growth and Syndromes | ESPE2023

Does cervical medullary decompression have an impact on growth in children with achondroplasia?

Fava Daniela , Tedesco Caterina , Angelelli Alessia , Napoli Flavia , Pepino Carlotta , Pepe Alessia , Teruzzi Daniela , Pisati Angelica , Fay Cortella Maria , Binelli Maria , Maghnie Mohamad , Di Iorgi Natascia , Elsa Maria Allegri Anna

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

hrp0097p1-521 | Growth and Syndromes | ESPE2023

A variant of uncertain significance in HMGA2 gene, in a 2-year-old child with Silver Russel syndrome like phenotype - a case report

Bourousis Evangelos , Xatzipsalti Maria , Lazaros Leandros , Nitsos Nikolaos , Stamogiannou Lela

Introduction: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...

hrp0097p1-522 | Growth and Syndromes | ESPE2023

ACAN gene mutation in a patient born small for gestational age with familial short stature

Iotova Violeta , Deyanova Yana , Stoyanova Milena , Hachmeriyan Mari

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

hrp0097p1-523 | Growth and Syndromes | ESPE2023

A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature

Aureli Alessia , Bocchini Sarah , Mariani Michela , Crinò Antonino , Cappa Marco , Fintini Danilo

Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated lin...

hrp0097p1-524 | Growth and Syndromes | ESPE2023

Two male siblings with extremely tall stature, moderate mental retardation and a deletion of ASH1L at chromosome 1q22.

Birkebæk Niels , Lildballe Dorte

Background: Several symmetric monogenic overgrowth syndromes with tall stature have been described, which is why children with syndromic tall stature should undergo comprehensive diagnostics. Tall stature has not been associated with chromosome 1.Objective: To present height growth and diagnostics in two male siblings with extreme tall stature and moderate mental retardation. Both had a deletion of ASH1L at chro...

hrp0097p1-525 | Growth and Syndromes | ESPE2023

Human milk insulin-like growth factor-1 (HMIGF1) and its effects on Infantile and Childhood Growth

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

Introduction: Accumulating evidence indicates various but significant effects of human breast milk IGF1 (HMIGF1) on infantile linear growth and weight gain.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on various effects of HMIGF1 on infantile and childhood growth. We reviewed 12 studies (n= 941 inf...

hrp0097p1-526 | Growth and Syndromes | ESPE2023

The first description of neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome)in the Russian Federation.

Kungurtseva Anastasiia , Tikhonovich Yulia , Popovich Anastasiia , Vitebskaya Alisa

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...

hrp0097p1-527 | Growth and Syndromes | ESPE2023

Application of next-generation sequencing in patients suspected of having skeletal dysplasia

Kim Minji , Kim Min-Ji , Kun Cheon Chong

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...

hrp0097p1-528 | Growth and Syndromes | ESPE2023

Seasonality in growth of preschool children in Palestine, a pilot study

Eida Hasan , Mansour Ahmad , Abdelhafez Mohammad , Elayan Tamara , Mansour Maryam , Abu Rob Alaa , Alghneimat Bilal , Rfidi Iyad

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

hrp0097p1-529 | Growth and Syndromes | ESPE2023

A Rare Cause of Pathological Tall Stature: Luscan Lumish Syndrome

Hürmüzlü Közler Selen , Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Luscan-Lumish syndrome (LLS) is a postnatal overgrowth syndrome characterized by macrocephaly, mental retardation, seizures, postnatal overgrowth, and developmental delay, caused by a heterozygous mutation in the SETD2 gene on chromosome 3p21, which exhibits autosomal dominant inheritance.Case Report: A ten-year-old girl presented with menarche. She was born to healthy non-consanguineous parents at 37 weeks...