ESPE Abstracts

Background: Understanding the growth trajectories of preterm Appropriate for Gestational Age (AGA) infants with birth weights under 1.5 kg is crucial for optimizing their long-term health outcomes. This study explores the correlations between various growth parameters over five years to identify predictive markers for future growth.Methods: A longitudinal cohort study was conducted on preterm AGA infants (n = 50...

Introduction: Previous studies have demonstrated varying patterns of growth in children with Growth Hormone Deficiency (GHD), particularly in the first two years of life, a period crucial for growth and development. This study aims to compare the early growth patterns, specifically the rate of catch-down growth in the initial months post-birth, of children diagnosed with GHD. By juxtaposing our findings with existing literature, we seek to deepen the understan...

Background: Turner syndrome (TS) is a chromosomal disorder characterized by ovarian dysgenesis, short stature, and other congenital abnormalities. This condition arises from a complete or partial loss of one X chromosome in females, often leading to delayed diagnosis and thus missing critical opportunities for timely treatment. Estrogen Replacement Therapy (ERT) and Growth Hormone Replacement Therapy (GHRT) are standard treatments, yet their long-term impacts ...

Background: Leptin, ghrelin, and nesfatin-1 are peptide hormones which regulates food intake, energy homeostasis and growth hormone synthesis.Objectives: To evaluate the relationship between leptin, ghrelin and nesfatin-1 with catch-up growth (CUG) in children born small for gestational age (SGA).Methods: A total of 67 children were included; 34 children born SGA without CUG, 17 ch...

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RAS–MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...

Ulnar-mammary syndrome (UMS) is caused by TBX3 mutation and is a disorder characterized by altered limb, breast, tooth, hair, apocrine gland, and genital development. The detailed genotype-phenotype correlation of TBX3 -related diseases was analysed by the 5.5th UMS case analysis, and all reported cases of UMS were summarized and discussed.Methods: The clinical and genetic data of a boy with UMS were carefully analysed....

MIRAGE syndrome is a genetic disorder that involves multiple organs and it is characterized by myelodysplasia, immunodeficiency, growth restriction, adrenal hypoplasia, hypogonadism, and enteropathy. Due to a poor prognosis in patients with this syndrome, it is not clear how patients with MIRAGE syndrome grow or how puberty develops. As we are currently managing the oldest known male patient with this syndrome in Japan, we have a record of his growth and pubertal development f...

Background: Cushing's syndrome (CS) is a rare condition in children, with exogenous glucocorticoid administration being the most common etiology. Corticotropin-independent CS caused by bilateral adrenal hyperplasia or multiple adenomas is exceptionally uncommon in this age group.Case Presentation: A 6-year-1-month-old girl from Kinmen presented with a 2-year history of growth retardation and a 1-year history of deve...

Kenny-Caffey syndrome type 2 (KCS 2) is an extremely rare autosomal dominant genetic disorder characterized by proportionate short stature, hypoparathyroidism, skeletal dysplasia and facial deformities. It is caused by variants in FAM111A gene. The clinical manifestations of KCS2 are atypical and diverse. We present two cases with KCS 2 with short stature, skeletal deformities and eye abnormalities confirmed by genetic analysis. The first patient came to our hospital ...

Background: Floating-Harbor Syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development, among other clinical manifestations. In this case-cohort study, we aim ed to evaluate the clinical features and treatment outcomes of ten Chinese children diagnosed with FHS treated with recombinant human growth hormone (rhGH) or nutritional therapy.Methods: In this retrospec...

Background: Current Turkish growth reference charts based on anthropometric measurements of individuals with high socioeconomic status in Istanbul in 1989-2002 (TK2002) had shown an increase of mean adult height (1.4 and 2.7 cm in males and females) compared with 1978. Given recent improvements in nutrition, hygiene and access to preventive health services, we hypothesized that this positive secular trend may continue.Methods:</s...

Objective: Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by growth retardation, advanced puberty and poor pubertal growth spurt leading to short stature. Our aimfor this study was to assess the use of a combined treatment with recombinant human Growth Hormone (rhGH) and Gonadotropin-releasing hormone analog (GnRHa) in patients with SRS followed in the French National Reference Centre, regarding adult height (AH) and tolerance outcom...

Background: Vitamin D deficiency is a prevalent health concern in children, potentially leading to various health issues. Early identification of children at risk of vitamin D deficiency is crucial for timely intervention and prevention of associated complications. This study aim ed to develop a deep learning algorithm to predict the risk of vitamin D deficiency in children aged 0-12 years using simple laboratory tests.Methods:</...

Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, curr...

Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-t...

Objective: To report the clinical characteristics, diagnosis, treatment and genetic analysis of a case of X-linked acrogigantism(X-LAG).Methods: The clinical information of a 4-year-old girl due to “growth acceleration for 2.5 years, breast overflow for 3 months, accompanied by intermittent convulsions twice” was retrospectively reported, and peripheral blood DNA was collected for whole exome sequencing and e...

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. We aim ed to delineate endocrinopathy in PWS patients during long-term follow up.Methods: A total of 71 patients with PWS were enrolled retrospectively from July 2009 to March 2020. Diagnoses were based on the clinical and genetic testing.<p...

Background: Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for healthy children, conflicting results have been reported regarding their effectiveness in different patient groups.Objective: This study aim ed to determine the most accurate method for PAH by comparing the...

Objective: Silver-Russell Syndrome (SRS) is a rare disorder characterized by growth restriction and distinctive phenotypic features. The underlying mechanisms include loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7. While feeding difficulties and gastrointestinal (GI) symptoms are prevalent during childhood, their manifestation and severity in adulthood remain unclear. This study aim ed to evaluate the presence and sever...

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

Introduction: 18q deletion is one of the rare causes of short stature, characterized by intellectual disability, short stature, hypotonia, hearing loss, and foot deformities. Patients with this condition are also found to have an increased susceptibility to autoimmune diseases, which can lead to associated endocrinopathies. Here, we present a case diagnosed with 18q deletion and followed in our clinic due to short stature.Case:</...

Introduction: LIG4 syndrome, a rare autosomal recessive disorder, arises from mutations in the DNA ligase IV (LIG4) gene on chromosome 13q33–q34. It disrupts DNA damage response and the repair of double-strand DNA breaks crucial for T and B lymphocyte receptor production. This syndrome manifests various clinical features such as microcephaly, atypical facial characteristics, growth delays, skin issues, genital abnormalities (micropenis/cryptorchidism), a...

We present two cases in which we would like to point out the similarity of the clinical manifestation of the rare syndromes and the need for rigorous genetic analysis in detecting the origin of the disease. First patient is 2 years old boy examined due to severe muscle hypotonia, psychomotor delay and severe growth retardation (SDS of height -2,6). He was born as small for gestational age. Hypopituitarism was excluded. His phenotype strongly resembled Silver Russell syndrome, ...

Introduction: Children diagnosed with growth retardation (short stature - nanosom) face the same social and psychological challenges during their development as their healthy peers, with the difference that they also have to cope with difficulties arising from their condition.Objective: The aimof our study was to assess the impact of growth retardation on quality of life, paying particular attention to differences betwee...

Fetal alcohol spectrum disorders (FASDs) are a leading preventable cause of developmental and psychosocial disorders. Prenatal alcohol exposure can be a cause of growth impairment and metabolic problems. Several diagnostic classifications of FASD are used in parallel around the world. Each of the recommendations used worldwide indicates the need to evaluate four key domains, such as the quantity and quality of alcohol exposure during pregnancy, dysmorphic facial characteristic...

Introduction: Small-for-gestational-age (SGA) children frequently face challenges in achieving expected growth, with 10% experiencing growth failure and subsequently seeking pediatric endocrinologists for short stature. However, the determinants of growth hormone therapy response in SGA remain unclearObjective and Method: This study examines the three-year response to growth hormone (GH) therapy and factors affecting gro...

Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live birthsObjective: The aimof this study was to identify clinical features and endocrine...

Introduction: Widespread availability of genetic testing has dramatically impacted clinical practice in some developed countries, changing the current perspectives of preventive medicine and sometimes raising more questions than answers and creating research opportunities.Case report: We report the case of a 6-year-old boy with familial history of neuropathy who was first addressed to the Neurology Department due to a de...

Background: Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare genetic condition caused by de novo mutations in the KAT6B gene, which encodes lysine acetyltransferase 6B, an enzyme involved in chromatin modification. The clinical phenotype is characterized by global developmental delay and multiple congenital abnormalities, including a number of distinctive facial features (ptosis, blepharophimosis, and mask-like appearance), skeletal involvement (...

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first Chinese child with bone fractures, a seizure history, and novel recurrent gastrointestinal ma...

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...

Background: Noonan Syndrome (NS) is a genetic disorder mainly inherited in an autosomal dominant manner, which prevalence is estimated to range from 1:1,000 to 1:2,500 live births. Characteristic features of NS include short stature, distinctive craniofacial dysmorphisms (e.g., hypertelorism, low-set ears, broad and short neck), skeletal anomalies and cardiovascular defects. The genetic basis involves, most commonly, mutations in the PTPN11 gene, KRAS gene and...

Objective: To identify factors influencing compliance with daily recombinant growth hormone (rhGH) therapy in children and adolescents with growth hormone deficiency (GHD) and born as small for gestational age (SGA) based on data from two European paediatric endocrinology centres.Study population and methods: The study population included 130 patients with GHD or SGA from Szczecin (Poland) and Messina (Italy); 53% of pat...

Background: We present the case of a 7.5-year-old male of Sephardic Jewish descent, born to non-consanguineous parents, diagnosed with Hemophilia B and a SOX3 gene deletion. The child exhibited endocrine disorders and developmental delay.Case Presentation: Born full-term following an uncomplicated pregnancy, he was diagnosed with Hemophilia B shortly after birth due to a significant hemorrhage post-routine dextrose check...

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...

Introduction: The first patient with Temple syndrome (TS, ORPHA 254516) was described in 1991. The genetic condition is rare (prevalence<1/1000 000, <100 described patients). An abnormal expression of genes in the imprinted 14q32.2 region has been revealed. The 14.32.2 region is characterized by three differentially methylated regions (DMRs) and a cluster of paternally and maternally expressed genes. Main clinical features are growth delay (pre-and postn...

Background: If in European and American countries we have very clear statistics about growth in Cystic fibrosis (CF). It is not the same in the majority of African countries because it has long been considered as a very rare pathology there. Actually without newborn screening; CF is under-diagnosed and given the fatal nature of the disease, many patients are lost.Objective: describe the anthropometric parameters of infan...

Introduction: Children born small for gestational age (SGA) may present permanent short stature. Recombinant human Growth Hormone (rhGH) treatment is recommended for those without spontaneous catch-up growth, however it is not universally available in the Brazilian health care system. Response to treatment may be different across populations since there are many etiologies to SGA birth.Objective: to evaluate adult height...