ESPE Abstracts

Autosomal dominant cutis laxa type 3 (ADCL3) is a genetic connective tissue disorder characterized by poor pre- and postnatal growth and, rarely, by systemic impairment. The aetiology of short stature is incompletely known, some of these patients reaching normal final height. Less than 50 cases were reported in the literature. We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. His medical history reveals congenita...

Background: Research has shown that some of the endocrine disorders in patients with sickle cell disease include delayed growth and pubertal development. No study has been done in Kenya to investigate whether this applies for the local children with sickle cell anaemia.Objective: To describe growth and pubertal development in children and adolescents with Sickle cell disease.Methodology: This was a cross-sectional descriptive study...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

Abstract: The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general population, and screening has been recommended in asymptomatic individuals known to have an increased risk of developing the disease. In light of this recommendation, the aim of the study was to assess prevalence of celiac disease in Turner syndrome.Patients and methods: Serological screening of coeliac disease were performed in 85 children and adoles...

Simpson-Golabi-Behmel syndrome is a condition which classified as an overgrowth syndrome and affects many parts of the body and occurs primarily in males. Infants have macrosomia at birth and continue to grow and gain weight at an unusual rate. The incidence of Simpson-Golabi-Behmel syndrome is unknown. Mutations in the GPC3 gene are the most common cause of Simpson-Golabi-Behmel syndrome. About 250 people worldwide have been diagnosed with this disorder. About 10 percent of p...

Introduction: Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogenous condition, and affects one in 100,000 born children. The most well-known genetic mutations in this syndrome are: 11p15 mutation (20–60% patients), and maternal uniparental chromosome 7 disomy (7%–15%). Children with SRS have severely impaired physical growth - intrauterine and after birth. They can be treated with growth hormone (GH).Case report: 8 ye...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

Background: Turner’s syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger ag...

Children born small for gestational age (SGA) have a weight and/or heighth less than −2SD from the mean, the realization of an adequate catch-up or not during the first years is important and the growth assessment is required.Objective: Analyze Catch-up on Growth of 52 SGA children during the first 4 years of life, compared 23 children who performed it properly (AC) with 19 who did not recover (NAC).Methods: Retrospective stu...

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

Introduction: Turner Syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a phenotypic female. The genes involved in Turner phenotype are X-linked genes that escape inactivation. A major locus involved in the control of linear growth has been mapped within the Pseudo-Autosomal Region (PAR1) of the X chromosome.Aim: To study some endocrine hormones with considerable effect on the presentation and prognosis of TS and their...

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...

Introduction: Kabuki syndrome (KS) is a rare genetic disorder (1 in 32,000 newborns) caused by mutations in the KMT2D gene (autosomal dominant pattern) or the KDM6A gene (X-linked dominant inheritance). KS is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with everted lower lids at the outside edges, flat, broadened tip of the nose and large protruding earlobes. The name of this disorder comes from the resemblanc...

Introduction: The oto-spondylo-megaepiphyseal dysplasia (OSMED) is a rare condition with autosomal recessive inheritance caused by congenital defect in the formation of cartilage collagen. OSMED is caused by mutations in the COL11A2 gene, which encodes the alpha2 chain of XI type collagen, a complex molecule that gives structure and strength to the connective tissues that support the body’s joints and organs. OSMED is characterized by severe sensorineural hearing loss and...

Objective: Type 0 glycogen storage disease (GSD0) is caused by deficiency of the hepatic isoform of glycogen synthase. Growth hormone deficiency in this disorder has not been reported.Case: A two-year old girl who had suffered from occasional morning convulsions was admitted to our clinic. Her length and body weight were measured as 80 cm (−2.4 S.D.) and 11.3 kg (−1.3 SD), respectively. Physical examination was unremarkable. Me...

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

Up to 50% of children born SGA at 2 years have not made a correct catch up (by excess or defect), with repercussions on size, metabolic and cardiovascular alterations, DM, etc. The Project has developed a prospective cohort of SGA and seeks to study phenotypic, BQ and genetic differences that explain their different behavior.Material and methods: We study live births of single pregnancies in our Hospital during 2012–2014, and are classified accordin...

The pathological low stature is considered to be one that does not conform to normality (<2 SDS), that with a pathological growth rate. An obvious element is the conditioning that can generate in their professional outings, both in public and private activity. This seems to be evident in the female sex than in the male sex. The health system considers the treatment (with Ghrh) in pathological size without considering sexual dimorphism.Goals: To study...

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

Background: Liver tests abnormalities are common in adult patients with Turner Syndrome (TS). The data regarding liver tests in children and adolescents with TS remain lacking.Design and patients: A cross-sectional review of liver function of 100 girls with TS (age range 4–16, the mean BMI SDS 0.63 [−1,86 −6,78]); 56 receiving rhGH therapy (9 obese, 47 normal weight), and 44 receiving rhGH therapy and estrogen or estrogen/progesterone ho...

Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of Uzbek population with Turner syndrome and to search for correlations between genotype and phenotype. We examined 149 Uzbek girls with Shereshevsky-Turner syndrome aged from 3 mont...

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

Turner syndrome (TS) is the most common genetic disease associated with the X-chromosome abnormality. Sex chromosome monosomy (45,X) occurs in 40–50% of the cases. 5% of patients with TS, in addition to cells lacking the genetic material of the X-chromosome, have a cell line with Y-chromosome, whether complete or not, which can be clinically manifested by virilization and mixed gonadal dysgenesis. Early identification of the Y-chromosome genetic material in patients with...

Prader-Willi syndrome (PWS) is a genetic condition (frequency from 1:8000 up to 1:30 000), which is associated with deletions of chromosome 15 (region 15q11.2), maternal uniparental disomy and impring defects. It is characterized by muscle hypotonia in the early postnatal period, excessive weight gain after 2 years of age, lack of satiety, short stature, hypogonadism and compulsive-like behavior. Every patient has his/her own specific needs that change with age and individuali...

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

Factors Influencing the Selection of Injection Areas during Self-Therapy for Growth Hormone Therapy among Patients 10–15 Years old.Background: It is known that consistency in growth hormone therapy has major influence on long term linear growth. Many studies have researched the connections between varied growth hormone preparations, ease of use and adherence to treatment. No research was found on preference of specific injection areas and reasons fo...

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...

Background: Short stature occurs in both Trisomy 21 and Turner syndrome. This unusual case has a de novo mutation of 47,X,del(X)(p22.3),+21 with clinical features of both syndromes. Growth assessment data and investigations was previously discussed in ESPE2016.Case: Following growth assessment due to parental concern that her short stature was too short for either syndrome and a falling height velocity of 3.5 cm/year at 2.8 years, the decision was made t...

Objective: To evaluate the growth response in children with Noonan syndrome (NS) treated with growth hormone (rGH).Methods: We retrospectively collected data from 2007 of pre-pubertal children with NS, their baseline auxological parameters were recorded pre and post treatment.Results: A total 1134 were treated with growth hormone for short stature of which there were six cases of NS, constituting 0.5% of the short stature. There we...

Background: PROP1 (Prophet of POUF1) mutations are the most frequent genetic cause of combined anterior pituitary hormone deficiency. The PROP1 gene encodes a transcription factor of synthesis: somatotrophs, lactotrophs, thyreotrops and gonadothrops. These mutations are characterized by great clinical variability, including time of onset of hormonal deficiencies, hypophyseal dimensions and secretion of cortisol.Objective and hypothesis: Referral of child...

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Prader Willi Syndrome (PWS) is characterized by hypotonia, developmental delay, short stature, small extremities, characteirstic facies, hyperphagia, obesity, hypogonadism, obstructive sleep apnea and other behavioral problems. We report twelve cases of PWS (four females, eight males) in the age group of 1–18 years being treated at Sir Ganga Ram Hospital, a tertiary care center in Northern India. In males, seven (87%) had cryptorchidism; in females, one (25%) had labia mi...

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities and congenital defects. Here, we identified a Chinese girl with a 3.18 Mb deletion at 12q12 (human genome build 19: 43,418,911–46,601,627). Deletions at 12q12 are extremely rare chromosomal imbalances; only five cases involving a deletion of this type ha...

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be in...

Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from a...

Objective: To highlight conversion of hypothyroidism to hyperthyroidism by case reported and literatures reviewed.Methods: Case report and literature review.Results: Two children diagnosed as Hashimoto’s thyroiditis with hypothyroidism and treated with levothyrocine primary. During the following, hyperthyroidism was noted even the stop the administration of levothyrocine. thyroid receptor antibody (TRAb) was positive during th...

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...