ESPE Abstracts

Introduction: Growth hormone (GH) therapy in Turner Syndrome (TS) affects growth and glucose metabolism.Methods: Reviewed studies focused on GH therapy's impact on glucose metabolism in TS, selecting those with clear outcomes and sufficient sample sizes.Results: The effects of GH therapy on glucose metabolism in TS vary, with studies indicating both potential risks and benefit...

Introduction: Short stature is the one of the most common referral to paediatric endocrine clinic. Analysis of growth charts is a non-invasive tool and should allow differentiation between normal and abnormal growth. The aimof thid study is to compare the accuracy of Algerian growth charts (DZ-charts) with WHO growth charts in identifying short stature.Method: Measurement of children and adolescents aged from 6 to 14 yea...

Background: 1q21.1 microdeletion syndrome is a genetic disorder characterized by a spectrum of complex clinical manifestations, including neurodevelopmental abnormalities, short stature, and cardiac anomalies. However, the phenotypic heterogeneity of this condition poses a diagnostic challenge. We report a unique case of a patient who presented solely with short stature, which was later determined not to be caused by a 1q21.1 microdeletion after comprehensive ...

Objective: To determine the clinical features and frequency of endocrinological problems in Down syndrome patients.Materials and Methods: We retrospectively evaluated the hospital records and patient files of 59 patients with Down syndrome. The study included patients with Down's syndrome between 0 and 17 years old whose diagnosis was cytogenetically proven.Results: 28 patient...

Objective: Our goal is to determine the impact of bullying on the general physical and emotional health (anxiety and depression) of children with short stature.Method: From September 2020 to December 2020, we conducted a prospective cross-sectional and descriptive study, comparing children aged between 8 and 18 years diagnosed with short stature at a tertiary care Education and Research Hospital, a pediatric endocrinolog...

Introduction: Iron deficiency anemia is the most common form of anemia in pediatric age. It affects 20.1% of children aged 0-4 years old and 5.9% of children aged 5-14 years old in the Western World with profound implications for the growth. Dietary changes and iron supplementation may be crucial. This study aims to assess the correlation between growth and iron deficiency in children and the effects of ferrous iron treatment on the auxological parameters....

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...

Background: Albright hereditary osteodystrophy (AHO) is a rare constellation of dysmorphic physical features such as short stocky build, round face, cutaneous ossification, and metacarpophalangeal abnormalities as well as pseudohypoparathyroidism (PHP) with variable hypocalcemia, and hyperphosphatemia. This hereditary metabolic disorder is caused by a mutation in the GNAS1 gene in the q13.11 region of chromosome 20.Case Report:</...

Beckwith-Wiedemann syndrome is a congenital imprinting condition with a heterogenous clinical presentation of overgrowth and an increased childhood cancer risk. Hemangiomas are a rare presentation, while association with diaphragmatic eventration and congenital hypothyroidism was reported even more rarely. This case highlights the presence of some rare anomalies which may be associated with BWS.Case presentation: Personal and disease his...

Introduction: Lysineuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which impairs the intestinal, renal and hepatic absorption of basic amino acids (lysine, arginine, ornithine). Children with LPI may present with protein avoidance, growth retardation, hepatosplenomegaly and osteoporosis. Here, we present two cases diagnosed with LPI due to short stature, with one case involving growth horm...

Introduction: The SHOX (short stature homeobox) gene, located in the pseudoautosomal region of the X and Y chromosomes, implicated in Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, idiopathic short stature. Growth hormone (GH) therapy has proven effective in promoting height gain in patients with SHOX deficiency. We will present a case who was treated for borderline precocious puberty and diagnosed with Leri-Weill dyschondrosteosis upon adm...

Background: In patients with SHOX deficiency, radiographic abnormalities can vary, with some cases showing no deformities or only mild deformities, particularly in young children, while Madelung deformity is the most commonly observed radiographic feature. Growth hormone (GH) therapy for individuals with SHOX deficiency has been available in Japan since June 2023. This report summarizes a case series of SHOX deficiency diagnosed at a single institution, with a...

Background: Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2500 live female births caused by partial or complete absence of one X chromosome. Its most common clinical features are short stature and gonadal insufficiency. Only about a third of girls with Turner syndrome may have spontaneous puberty.Objective: The aimof this case presentation is to describe the clinical manifestations in th...

Introduction: Worldwide the incidence of small for gestational age (SGA) births varies between 2 and 10%. In Bulgaria there is not enough data for the SGA births prevalence in the last 20 years. There is only one population based study focused on late SGA complications that found the world-known relative share of SGA children who don’t catch up - about 10%. The indicated growth hormone treatment is still not reimbursed in the country for short SGA childr...

Background: Silver-Russell Syndrome (SRS) is a clinically heterogenous syndrome, characterized by intrauterine and postnatal growth retardation, distinct facial features, relative macrocefaly at birth and body asymmetry later in life, in combination with other malformations. Feeding difficulties, hypoglycemia and speech delay may appear. SRS diagnosis is clinical, according to the Netchine–Harbison clinical scoring system. Only 60% of cases are genetical...

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a female predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a “Greek warrior helmet appearance.”Observation: A 5-year-old boy is brought to the pediatric endocrinology consultation for short stature. He...

Introduction: Bone dysplasias are a group of disorders affecting the development and growth of bones and cartilage. These conditions can lead to various skeletal abnormalities, including short stature, deformities and problems with joint function. Skeletal dysplasias are generally caused by genetic mutations. There are over 400 different types of bone dysplasias, each with its specific set of symptoms and genetic causes. This study introduces three patient cas...

Introduction: PIK3CA-related overgrowth spectrum (PROS) encompasses a group of disorders caused by mutations in the PIK3CA gene, leading to abnormal growth and development of various tissues in the body. We report a case of PROS with hypertrophy of the right index finger and upper limbCase: The case is a 19-month-old boy. He was born at 38 weeks of gestation, weighing 2,554g and measuring 47.2cm in length, with a head ci...

Introduction: Hypochondroplasia is a rare genetic growth-related condition primarily caused by FGFR3 variants that lead to decreased endochondral bone growth, disproportionate short stature and other medical complications. It shares pathogenetic and phenotypic similarities to achondroplasia. Outside of Japan, there are no approved pharmacological treatments for hypochondroplasia. Vosoritide, a C-type natriuretic peptide analog, is an approved first-in...

Background: Turner syndrome (TS) is the most common genetic disorder. Genotypically, they can be classified depending upon karyotype like monosomy, abnormal X chromosome and mosaics. Short stature and premature ovarian failure are the most consistent features of turner syndrome. However, the presentation of other clinical features is quite varied.Objective: To determine correlation between Genotype & Phenotype in Tur...

Short stature can be caused by different diseases. Often, particularly in symptomatically complex cases, genetic abnormalities may be presumed, of which exploration determines the effectiveness of treatment and the outcome of transitioning into adulthood. A 4.5 years of age intrauterine growth retardation (IUGR) born girl was presented for the first time at our endocrinology department due to proportionate growth delay and dysmorphic body composition. She had been under pediat...

Introduction: The short stature homeobox-containing gene, SHOX, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Growth impairment is a common manifestation in SHOX deficient patients (SHOXD), with variable degrees of height disablement. The growth promoter treatment of SHOXD patients consists in the administration of recombinant human GH (rhGH). In Italy, the allowed formulation of rhGH (somatropine, Hum...

Introduction: Short stature is a common reason for seeking medical care in childhood. However, clinical variability and genetic heterogeneity don&grave;t allow to identify the immediate cause in a significant part of patients.Materials and Methods: Patient L., 11.5 years old, complained of growth retardation. A boy from the 3rd pregnancy, which occurred against the background of gestosis, SGA. Delivery 1, by emergency ca...

Background and study setting: Turner syndrome (TS) is characterized by either a complete or partial loss of one X-chromosome, resulting in the 45,X karyotype or variants hereof. In Denmark, around 42% of TS foetuses are prenatally detected, most commonly during the first trimester screening, which is offered to all women as part of the free prenatal care. Of these, 69% are terminated. Prior studies have identified several factors influencing parental decision ...

Introduction: Puberty generates hormonal changes which induce physical changes like the development of secondary sexual characteristics, which cause discomfort in the transgender person. GnRHa stops puberty, which reduces the changes in the body and allows the teenager to have time to consider their gender identity. However, an expected side effect of these drugs is the reduction of growth velocity.Objective: Determine t...

Herein, we report the case of a 15-year-old Indian boy who initially presented for short stature and obesity. Based on in-depth clinical assessment, the pediatric endocrinology team conducted investigations along with genetic tests. Clinical investigations revealed parathyroid adenoma, pituitary macroadenoma (prolactinoma), and pancreatic neuroendocrine tumor adenoma. The phenotype was directing us towards the MEN syndromes, apart from polydactyly which is atypical for MEN syn...

Introduction: Noonan syndrome (NS) is a rare autosomal dominant genetic disorder with an estimated incidence of 1/2500. Diagnosis is mainly clinical, with the association of dysmorphic signs, cardiac malformations and delayed growth.Observation: The cases involved 2 boys and 2 girls. The average age at diagnosis was 9.5 years, with a characteristic facial dysmorphia in 100% of cases, cardiac malformations such as pulmona...

Introduction: Puberty has a significant contribution to near final height and significant weight gaining in adolescents. Therefore, it is crucial to understand the normal growth variations in the onset and tempo of puberty in a specific population. In this study, we aim ed to provide normative data on weight and height in saudi adolescents.Methods: A nationwide population-based “Jeeluna = our adolescents’ pop...

Introduction: Noonan syndrome (NS) is an autosomal dominant inherited, rare syndrome that occurs as a result of mutation in the PTPN11 gene. The most common mutation in Noonan syndrome occurs in the PTPN11 gene and characterized by short stature, developmental delay, congenital heart disease, renal anomalies, lymphatic malformations, distinctive facial features of NS: downslanting palpebral fissures, epicanthic folds, hypertelorism, low-set ears short neck, wi...

Klinefelter Syndrome (KS), marked by an extra X chromosome (47, XXY karyotype), is the most prevalent sex chromosome disorder in males, appearing in about 0.2% of male births. [1] We present a rare case of Klinefelter Syndrome (KS) characterized by an atypical short stature and growth hormone deficiency Case presentation: 16-year-old male with Klinefelter Syndrome (47, XXY karyotype) presented for evaluation due to significant developmental delays and an unusually short statur...

Background and aims: Breastfeeding is associated with different adiposity development in infants and a reduced overweight risk. Human milk contains large lipid globules with a native membrane rich in phospholipids, whereas lipid droplets in most conventional infant formulas (IF) are small and protein-coated. Our study aims to evaluate the impact of a Concept IF with large, milk phospholipid-coated lipid droplets, closer to human milk lipid globule characterist...

The rare co-occurrence of pseudohypoparathyroidism (PHP) and Turner syndrome (TS) is few documented in medical literature. Turner syndrome manifestations often overlap with those encountered in patients with PHP, further complicating the diagnostic process, particularly in atypical presentations. This poster aims to report the case of an individual with PHP and Turner syndrome. We describe the case of an 11-month-old female, who was referred to our hospital due to dysmorphic f...

Turner syndrome (TS) is the most common genetic disorder occurring in 1 / 2500 live-borne girls. It’s characterized by complete or partial loos of one X chromosome associated with short stature and premature ovarian failure. Morbimortality are increased in TS and related to cardiovascular (CV) disease. The aim of this study was to investigate the karyotypes and the phenotypes of a paediatric population with Turner Syndrome.Methods:...

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...