ESPE Abstracts

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

Shox gene deficiency which causes short stature is a known indication for treatment with growth hormone. The prevalence of shox deficiency among children with idiopathic short stature has a high variability in different studies and ranges between 1.5-17%. We aimed to determine the incidence of SHOX haploinsufficiency in our region and to assess the genotype-phenotype relation which may help with setting criteria in the decision to which patients should we offer this genetic te...

Introduction: Prader-Willi syndrome (PWS) is a rare imprinting disorder with evidence of increasing incidence. Treatment with recombinant human growth hormone (rhGH) has been shown to improve growth, body composition and final height. It is officially approved by the US Food and Drug Administration since 2000, but still not official indication in many countries.Aim: The aim of the current study is to assess the results o...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...

Introducción: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder that includes features such as overgrowth, macroglossia, abdominal wall defects, neonatal hyperinsulinism, lateralized overgrowth and predisposition to embryonal tumors during infancy. BWS may be clinically diagnosed by a scoring system and genetic diagnosis is mainly focused to imprinting disorders on the 11p15.5 region. The presence of pathogenic inactivating variants on the mate...

Introduction: An extremely low birth weight (ELBW) infant is defined as one with a birth weight of less than 1000 g. This study evaluated the postnatal growth of infants born with ELBW for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (between 9-2016 and 9-2018). Their anthropometric d...

Introduction: Small size at birth is only a proxy for the pathological process of intrauterine growth restriction.Aim: To study the effect of different birth weights on postnatal growth.Method: We studied the linear growth of 59 infants who were born preterm (GA = 33.5 +/- 2.2 weeks) with birth weight >1.5 < 2.5 kg) for two years. They were classified at birth into two groups...

Suboptimal head growth in utero and in early neonatal life may affect linear growth and weight gain during infancy. We studied linear growth and weight gain of 56 preterms (GA = 33.5 +/- 2.2 weeks) with birth weight >1.5 < 2.5 kg) for two years. They were classified at birth into two groups (group 1 with HCZ <-1) (relatively small head for GA) (35 +/- 2 weeks) and group 2 with HCZ > -1 (GA = 33 +/- 1.7 weeks)Results: Preterm ...

Introduction: The DIAPH2 gene (Diaphanous homolog 2 Drosophila) is a Protein Coding gene found on the long arm of the X chromosome and is a member of the FH1/FH2 protein family. Members of this family affect cytokinesis and other actin-mediated morphogenetic processes required in early gonadal development.Case Description: An eight-year-old girl was referred with a chief complaint of short stature. She is a product of no...

Entry: Rickets is a generalized metabolic bone disease manifested by the abnormal increase in osteoid tissue, defective mineralization and deformation of the epiphyseal plate, which occurs as a result of vitamin D and mineral deficiency before epiphysial fusion occurs in adolescence. Although rickets is mostly seen due to vitamin D deficiency, it can rarely be seen in vitamin D metabolism disorders and diseases that cause phosphorus loss. Clinical findings suc...

Introduction: Noonan Syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK pathway. The clinical phenotype is variable; however, short stature is present in more than 80% of cases. Several clinical trials have been conducted over the last decades using recombinant growth hormone (rhGH) in NS to treat short stature demonstrating efficacy and safety which lead to the European Medicines Agency (EMA) approval in 2020.<stron...

Background: The association between Turner syndrome and Type1/ Type 2 diabetes is well known. Growth hormone is also utilized in Turner syndrome to improve height outcomes, but association of Turner patients with growth hormone deficiency is rare. To my knowledge, there are no cases of concurring Turner syndrome, Type 1 diabetes, and growth hormone deficiency.Objectives: To describe a rare case where a child diagnosed wi...

Cerebellar-facial-dental syndrome is a rare autosomal recessive disorder due to biallelic variants in the BRF1 gene. It is characterised by cerebellar hypoplasia, intellectual disability, dysmorphic facial features and short stature. There have been only 12 patients described in the literature to date. We report a case of a 9-year-old non-consanguineous Caucasian boy with cerebellar-facial-dental syndrome and multiple coexisting diagnoses, including Klinefelter syndrome (XXY k...

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

1q21.1 recurrent microdeletion syndrome is a rare chromosomal disorder caused by a genetic abnormality of non-allelic homologous recombination in the sequence of flanking a copy number variation event during meiosis. The characteristic features of 1q21 microdeletion syndrome are dysmorphic facial appearances with microcephaly, and mild to moderate developmental delay of speech and motor, eye abnormality, short stature, skeletal malformation, and psychiatric and behavioral diso...

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Introduction: Short stature is a term applied to a child whose height is 2 standard deviations (SD) or more below the mean for children of that sex and chronologic age (and ideally of the same racial-ethnic group).Case report: We present a case of a girl aged 12 years, with normal perinatal and neonatal periods, GA=40 weeks, BW=2700 g, BL=49 cm, no medical history, no family history. The clinical exam revealed normal wei...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Objective: To investigate response to growth hormone (GH) treatment for idiopathic GH deficient (GHD) and family short stature (FSS) and Small for Gestational Age (SGA) patients or Combined group.Design: GHD, FSS, SGA and Combined group patients who were currently receiving GH and had completed treatment with treatment duration of more than 6 months (from 8/2019 to 5/2021) at International Vinmec Central Park hospital. M...

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...

Growth retardation in children with type 1 diabetes (T1D) is mostly associated with longterm poor metabolic control or combination with other autoimmune diseases. Although rare it could be due to growth hormone deficiency. We present eleven-year-old girl, diagnosed with T1D at age of 2y6mo., on multiple daily injections (MDI) with analogues. She is raised in poor social conditions – low parental education and income, rare follow-up due to difficult access to healthcare p...

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Acromelic dysplasia is a rare inherited bone dysplasia with 2 subtypes acromicric and gelophysic dysplasia. The prevalence is estimated <1/1 000 000, This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations characterised by growth drawfism, disproportionate short hands and feet, mild facial abnormalities, and characteristic x ray bones abnormalities. The condition appered to be s...

Background: Idiopathic short status (ISS) is defined as a height more than two standard deviations (SD) below the mean for age and sex and population group without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities. Children with ISS have normal birth weight and GH secretion.Aims: Aim of the study was to analyze the final adult height in a group of patients with idiopathic short stature.<p cla...

P1 was referred with short stature aged 2.4 yrs (HtSDS -2.1). Mother’s height 165 cm (+0.5 SD), father’s 185 cm (+1.55 SD). Growth hormone (GH) deficiency was diagnosed following two GH stimulation tests (Peak GH 6.8 ng/ml at 3.2 yrs, 5.17 ng/ml at 3.7 yrs) IGF1 4.6 nmol/l (1.7-27.6) at 2.5 yrs. Pituitary MRI was normal. GH treatment was started at 5 years at HtSD –2.2. Once P1 demonstrated catchup growth (up one centile in 7 months), P1’s older sister ...

Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromesIntroduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, al...

Introduction: Growth retardation is a frequent reason for consultation in pediatrics. The interrogation, the reconstruction of the evolution curve of the height and the weight, the clinical and paraclinical examination make it possible to orient the diagnosis. The etiologies are multiple, but most often the growth retardation is isolated, it is then said to be constitutional.Patients and methods: This is a prospective de...

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

WHO defines children born with intrauterine growth restriction (IUGR) as those with a birth weight below the 10th percentile of recommended birth weight by sex for gestational age. When gestational age is not available, a birth weight < 2500 g should be considered. The adult height in IUGR children treated with GH depends mainly on the duration of treatment and the age of initiation. Early diagnosis and early management before puberty are therefore imperative.<p class="...

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Background: Compared to children without the disease, children with food allergy are stunted, which is positively correlated with the amount of food eliminated and the duration of the diet.Objective: To compare the effect of an elimination diet on growth between children with cow milk allergy and those who are healthy as control subjects.Subjects and Methods: This study was carried...

Introduction: Turner Syndrom (TS) is one of the most common chromosomic abnormalities. It associates almost constantly an ovarian dysgenesis and a growth delay (GD). The GD is often secondary to a peripheral resistance to the growth hormone (GH). The GH deficiency (GHD) is a rare cause of growth delay, the association between these two condition is even rarer.Patients and methods: We describe here the cases of 4 patients...