Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 2

Growth and syndromes (to include Turner syndrome)

hrp0094p2-277 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan Esin , Altuoglu Umut , Ozturk Ayse Pinar , Toksoy Guven , Tutku Turgut Gozde , Poyrazoglu Sukran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza ,

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...

hrp0094p2-278 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of growth hormone therapy on serum concentrations of IGF-1 in patients with Turner syndrome: High IGF-1 concentrations despite optimal dose?

Karakilic Ozturan Esin , Karagoz Nurinisa , Ceylaner Serdar , Pinar Ozturk Ayse , Derya Kardelen Al Aslı , Yavas Abali Zehra , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza ,

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

hrp0094p2-279 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The Effect of Hospital Admission and Nutritional Rehabilitation (NR) on Growth and Metabolic abnormalities in adolescent females with severe Anorexia Nervosa (AN)

Al-Ansari Alanoud , Alsafi Athba , Alaaraj Nada , Soliman Ashraf ,

There is a lack of clear evidence-based guidelines for hospital admission of adolescents with anorexia nervosa (AN), resulting in a high degree of variation in practices. Acceptable indications for admission include the following: weight is less than 75% of ideal body weight, temperature < 35.5°C, heart rate < 50 beats/min, systolic BP <80 mm Hg, and orthostatic change in pulse or in BP.The aim of this study: To evaluate the ant...

hrp0094p2-280 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

AL Jorge Alexander , Pietropoli Alberto , Kelepouris Nicky , Horikawa Reiko ,

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...

hrp0094p2-281 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Endocrinological assessment in patients with fanconi anemia

Corredor-Andres Beatriz , Martin-Rivada Alvaro , Zubicaray Josune , Barrios Vicente , Sevilla Julian , Argente Jesus ,

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

hrp0094p2-282 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Brain-derived neurotrophic factor and matrix metalloproteinases as markers of metabolic status in girls with Turner syndrome.

Błaszczyk Ewa , Gawlik Jakub , Gieburowska Joanna , Tokarska Agnieszka , Francuz Tomasz , Gawlik Aneta ,

Background: Turner syndrome (TS) predisposes to obesity and related metabolic disorders and presents a high risk of congenital heart defects. Growth hormone (GH) treatment used in TS girls also affects the parameters of carbohydrate-lipid metabolism. Thus, the search for new markers that could be early predictors of metabolic disorders seems to be justified.Objective and Method: The assessment and comparison of MMP-1, MMP-2, MMP-9 (matri...

hrp0094p2-283 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry

Polak Michel , Bang Peter , Perrot Valerie , Sert Caroline , Storr Helen L. , Woelfle Joachim ,

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...

hrp0094p2-284 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

Irving Melita , Savarirayan Ravi , Arundel Paul , Polgreen Lynda E. , Mohnike Klaus , Ozono Keiichi , Saunders Michael , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

hrp0094p2-285 | Growth and syndromes (to include Turner syndrome) | ESPE2021

COVID 19 impact on Pediatric Endocrinology care – a short story from Romania

Pop Raluca , Piotraschke Lena ,

Background: Worldwide, the COVID 19 pandemic has influenced pediatric endocrine care, with quick implementation of telemedicine services, but at the same time suboptimal chronic disease management and delayed presentation/diagnosis. In Romania strict measures imposed between March and May 2020 led to ensuring only outpatient care in this period with telemedicine services reimbursed, but with no specific infrastructure developed for it.<s...

hrp0094p2-286 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Single nucleotide variations associated with short stature in Baka Pygmies as identified by Whole Exome Sequence (WES)

Bozzola Mauro , Zoccolillo Matteo , Lazarevic Dejan , Cittaro Davide , Manai Federico , Moia Claudia , Wit Jan M , Comincini Sergio ,

Introduction: Human growth is a multifactorial process involving genetic, hormonal, nutritional and environmental factors. Genome-wide association studies (GWAS) have shown that >400 genes are associated with adult height. African Baka Pygmies represent an isolated and well-confined small population with short stature of unknown etiology. In previous studies we reported an 8-fold reduced GH receptor gene expression and reduced serum levels of IGF-I and GHB...

hrp0094p2-287 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro

Chatterjee Sumana , Romeo Bertola Debora , Agwu Chizo , Maharaj Avinaash , Williams Jack , Cottrell Emily , Shapiro Lucy , Andrews Afiya , Savage Martin O. , Gaston-Massuet Carles , Metherell Louise A. , Storr Helen L. ,

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

hrp0094p2-288 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Comorbidities in Turner Syndrome patients controlled in our center since the 80’s

Corripio Raquel , Vargas Laura , Baena Neus , Garcia Emma , Perez Jacobo , Rivera Josefa ,

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.Methods: Descriptive retrospective study including all the patients genetic...

hrp0094p2-289 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Familial Mosaic Turner Syndrome with short stature and spontaneous puberty due to a ring X chromosome with distal Xp22.3 and distal Xq26 deletion

Lim Sharon , Brain Caroline , Lees Melissa , Gevers Evelien ,

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...

hrp0094p2-290 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Linear growth response to growth hormone therapy in underweight versus normal-weight children with idiopathic short stature (ISS)

Elawwa Ahmed , Soliman Ashraf , ElSiddig Sohair , Farag Marwa ,

Introduction: Growth hormone (GH) increases lean body mass and reduces fat mass. However, the long-term changes in weight status during growth hormone treatment, according to age and weight status at the onset of treatment, have not previously been reported in large data sets.Aim: To identify the growth response to GH therapy in underweight versus normal weight short children.Patients and Methods: ...

hrp0094p2-291 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Linear Growth and Weight gain in Infants with Significant Neonatal Hypoglycemia during the first two years of age: Comparison of infants of Diabetic Mothers (IDM) versus infants of non-diabetic mothers (INDM) with transient hyperinsulinemia (non-ketotic hypoglycemia)

Soliman Ashraf , Alaaraj Nada , Itani Maya , Jour Celine , Alyafei Fawzia , Hamed Noor , Alneimy Fatma , Ali Hamdy ,

Objective: Infants born to mothers with glucose intolerance are at an increased risk of having growth abnormalities at birth and postnatally. This study evaluated the growth pattern of IDMs from birth to the age of 2 years.Research Design and Methods: Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM and 40 infants of non-diabetic mothers who presented with significant neonatal hypoglycemia (p...

hrp0094p2-292 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Timing of infancy-childhood growth spurt in healthy Turkish children

Sharifova Sabina , Turan Hande , Tarcin Gurkan , Sharifli Samir , Gur Emel , Ercan Oya ,

Aim: The onset of the infancy-childhood growth spurt (IC spurt) is identical with the onset of the childhood component of the infancy-childhood-puberty growth model. The aim of this study was to determine the timing of IC spurt and to investigate the factors affecting it in healthy children.Materials and Methods: The files of 231 healthy children who were followed up regularly (at 0, 2, 4, 6, 12, 15, 18, 24, 30 and 36 months) at the Ista...

hrp0094p2-293 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of GH replacement therapy on body composition and muscle health in children and adolescents with GH deficiency: one-year prospective case-control study.

Improda Nicola , Capalbo Donatella , Di Mase Raffaella , Di Pinto Rosita , Alicante Paola , Scalfi Luca , Salerno Mariacarolina ,

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

hrp0094p2-294 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The spectrum of the Prader-Willi-like pheno- and genotype

Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita ,

Background/aims: Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without the typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant num...

hrp0094p2-295 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Italian survey on GH stimulation tests and their adverse side effects.

Salvatoni Alessandro , Agosti Massimo , Aversa Tommaso , Azzolini Sara , Bozzola Mauro , Calcaterra Valeria , Cardinale Giuliana Marcella , Caruso Manuela , Cavarzere Paolo , Cherubini Valentino , Ciccone Sara , Dipasquale Laura , Driul Daniela , Faienza Maria Felicia , FORINO Concetta , Grandone Anna , Guzzetti Chiara , Iezzi Maria Laura , Iughetti Lorenzo , Loche Sandro , Maghnie Mohamad , Mameli Chiara , Mancioppi Valentina , Matarazzo Patrizia , Messini Beatrice , Parpagnoli Maria , Carolina Salerno Maria , Tornese Gianluca , Trettene Adolfo Andrea , Vannelli Silvia , Zucchini Stefano , Delvecchio Maurizio ,

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

hrp0094p2-296 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Comparing the efficacy of nutritional supplementation of different caloric concentrations on linear growth and weight gain in late childhood, a longitudinal study.

Soliman Ashraf , Itani Maya , Jour Celine , Alyafei Fawzia , Adel Ashraf ,

We evaluated the growth parameters of 30 children with low weight gain who did not have any systemic illnesses and assessed their response to nutritional supplementation using two different formula supplements (1cal/1 ml) versus 1.5 cal/1ml) for one year.Patients and Methods: Thirty underweight children (BMI SDS < -1.5), aged 9 ±4 years, were divided into two groups according to the type of NS given by different dietitians. Group 1 included 10 c...

hrp0094p2-297 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The efficacy and safety of recombinant biosimilar growth hormone treatment in children with GHD and SGA: a Czech retrospective national longitudinal study

Snajderova Marta , Zemkova Daniela , Sumnik Zdenek , Zapletalova Jirina , Pomahacova Renata , Pruhova Stepanka , Cermak Jakub , Sadovska Barbora ,

Objectives: Recombinant growth hormone (rhGH) treatment helps to achieve a final height close to the parental growth potential in children with GH deficiency (GHD) and small for gestational age (SGA). Less is known about efficacy and safety of long term therapy with biosimilar rhGH. The aim of our study is to assess height gain and safety of therapy with biosimilar rhGH (Omnitrope®, Sandoz) in Czech children with GHD and SGA over the first three years of ...

hrp0094p2-298 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A qPCR based approach for rapid detection of Turner Syndrome and its variants

Mondal Sunetra , Saha Chinmay , Bose Chiranjit , Gargari Piyas , Bhattacharyya Nitai , Mukhopadhyay Satinath ,

Background: Turner syndrome (TS) is a common aneuploidy diagnosed by peripheral-blood-cell (PBC) karyotyping. Karyotyping is costly, time-staking and subject to manual errors. Quantitative real-time PCR (qPCR) is a cheap molecular diagnostic test which can detect several samples of TS within hours.Objective: To assess the performance of qPCR in detecting TS and variants.Methods: Ge...

hrp0094p2-299 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Case report: Tall stature, obesity and hip dysplasia in Weaver syndrome due to a loss-of-function variant in EHZ2

Paraskevopoulou Niki , Gevers Evelien ,

Case report: We describe a male with tall stature (final height 210.5cm), macrocephaly (63.5cm, +5.5SD), obesity (BMI 44.6 kg/m2) and mild learning difficulties. Birth weight was 4.6kg (+2.3SD). He had slightly delayed developmental milestones. He was referred at the age of 5 for tall stature (+6.2SD), with a head circumference on the 98th centile, growing at a rate of 10cm/yr. He had thick doughy skin, a mild squint, somewhat coarse features, large hands...

hrp0094p2-300 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Association of Daily Growth Hormone Injection Adherence and Height among Children with Growth Hormone Deficiency

Loftus Jane , Miller Bradley S , Parzynski Craig , Alvir Jose , Chen Yong , Jhingran Priti , Gupta Anu , DeKoven Mitch , Divino Victoria , Tse Jenny , He Jing , Wajnrajch Michael ,

Background: Use of recombinant human growth hormone (somatropin) is recommended for children with growth hormone deficiency (GHD) to normalize adult height and avoid extreme short stature. Prior research conducted among small study samples, across different study populations and health care systems, has suggested an association between adherence to somatropin and clinical outcomes, including height velocity. There is a need for further research, using real-wor...

hrp0094p2-301 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The evaluation of growth velocity, height, weight, elementary laboratory tests and hormonal function in the patient with Floating-Harbor syndrome treated with growth hormone for 20 months –case report, preliminary report.

Okońska Maja , Myśliwiec Małgorzata ,

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

hrp0094p2-302 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Two Sibling Cases with Growth Hormone Receptor Mutation: Variable Clinical Expressivity in Laron Syndrome

Sarıkaya Ozdemir Behiye , Cetinkaya Semra , Guleray Lafcı Naz , Şakar Merve , Kucukali Gulin Karacan , Elmaoğulları Selin , Savaş Erdeve Şenay ,

Background: Laron syndrome (LS) is a disorder of primary growth hormone (GH) resistance caused by genetic defects in GH and insulin-like growth factor 1 (IGF-1) axis. Here, we present the variable clinical spectrum in two sibling cases of Iraqi Arab origin with GH receptor (GHR) mutation.CASES: Two siblings referred to our clinic with the chief complaint of short stature. They had been born with a normal weight at term.Their parents were...

hrp0094p2-303 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A literature review of the potency and selectivity of FGFR-selective tyrosine kinase inhibitors, such as infigratinib, in the potential treatment of achondroplasia

Dobscha Katherine , Wei Ge , Dambkowski Carl , Rogoff Daniela ,

Background: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1–3 can cause skeletal dysplasias such as achondroplasia (ACH), which is caused primarily by a G380R substitution in FGFR3. Infigratinib (BGJ398), a potent and selective FGFR1–3 tyrosine kinase inhibitor (TKI), demonstrated preclinical efficacy at low doses in an ACH mouse model. The objective of this analysis is to evaluate dose dependency and toxicity...

hrp0094p2-304 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Impact of estrogen therapy on pubertal growth in Turner syndrome

Trouvin Marie-Agathe , Thomas-Teinturier Cecile , Bouvattier Claire , Duranteau Lise , Linglart Agnes ,

Short stature and hypogonadism are frequent symptoms in Turner syndrome (TS). In most cases, puberty must be induced but pubertal induction modalities are not consensual. Moreover, pubertal induction impact on final height and pubertal growth spurt has not been studied in depth. Our aim was to study factors influencing final height during pubertal induction in TS. Retrospective cohort of 45 TS girls followed in a single center: Bicetre hospital. We recorded auxological paramet...

hrp0094p2-305 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Anastrozole improves height prediction and near final height as monotherapy or in combination with growth hormone

Machado Pinto Renata , de Almeida Debora Ribeiro , Vitor Percussor Silva Joao ,

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

hrp0094p2-306 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Growth hormone deficiency (GHD) with high circulating insulin-like growth factor-1 (IGF-1) in an adolescent with celiac disease: Is it IGF-1 insensitivity?

Alaaraj Nada , Soliman Ashraf , Hamed Noor ,

Impaired growth in children with Celiac Disease (CD) results mainly from nutritional deficits. Withdrawal of gluten from the diet is frequently associated with a marked improvement of linear growth. Some CD patients still have impaired growth despite good gluten elimination. GH secretion should be evaluated in CD patients showing no catch-up growth. We describe a case with CD and severe linear growth retardation due to possible IGF-1 resistance.Case Pres...

hrp0094p2-307 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Postnatal Linear Growth and Weight Gain in Infants of Diabetic Mothers (IDM) Who Were Born at or Near Term and Had Severe Neonatal Hypoglycemia Without Other Comorbidities.

Soliman Ashraf , Alaaraj Nada , Alyafie Fawzia , Hamed Noor , Itani Maya , Alneimy Fatma ,

Growth abnormalities at birth and abnormal postnatal pattern of weight gain have been reported in infants born to mothers with gestational diabetes (IDM). This study evaluated the growth pattern from birth to the age of 2 years of 60 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/...

hrp0094p2-308 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Weiss Birgit , Eberle Birgit , Roeth Ralph , de Bruin Christiaan , Lui Julian C , Paramasivam Nagarajan , Hinderhofer Katrin , van Duyvenvoorde Hermine A , Baron Jeffrey , Wit Jan M , Rappold Gudrun A ,

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

hrp0094p2-309 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity

Kodytkova Aneta , El Lababidi Eva , Čermakova Ivana , Černa Jana , Čižek Jindřich , Dvořakova Marcela , Kalvachova Božena , Magnova Olga , Neumann David , Novotna Dana , Obermannova Barbora , Plašilova Ivana , Pomahačova Renata , Průhova Štěpanka , Strnadel Jiři , Škvor Jaroslav , Šnajderova Marta , Šumnik Zdeněk , Zapletalova Jiřina , Kusalova Kateřina , Šilar Jiři , Kolouškova Stanislava , Zemkova Daniela , Lebl Jan ,

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...

hrp0094p2-310 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Ciancia Silvia , Madeo Simona F. , Cattini Umberto , Bruzzi Patrizia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

hrp0094p2-311 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Efficacy of recombinant growth hormone therapy in TRPS 1 syndrome coexisting with growth hormone deficiency.

Dyrka Kamil , Obara-Moszynska Monika , Niedziela Marek ,

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

hrp0094p2-312 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Results from the Implementation of a Growth Disorders Related Twinning Programme (Partners4Growth) at tertiary pediatric endocrinology clinics

Elkina Stanimira , Rankova Kameliya , Avdjieva-Tzavella Daniela , Halvadzhiyan Irina , Stefanova Elisaveta , Kaleva Nartzis , Petrova Chayka , Popova Galina , Iotova Violeta ,

It is well known that early diagnosis of growth disorders in children and their timely treatment are important for better outcomes.Objective: To evaluate the results from the implementation of the Partners4Growth Twinning Programme at Bulgarian tertiary pediatric endocrinology clinics. Materials and Methods: Since 2019 Partners4Growth started operation at 6 centers – 3 experienced in growth disorders reference centers and 3 twin cen...

hrp0094p2-313 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report

Ocello Laura , Ramponi Giulia , Maitz Silvia , Marco Santo Di , Adavastro Marta , Biondi Andrea , Cattoni Alessandro ,

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

hrp0094p2-314 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Shox Gene Pathologies In Children With Short Stature And Madelung Deformity

Şakar Merve , Muratoğlu Şahin Nursel , Cetinkaya Semra , Karacan Kucukali Gulin , Kurnaz Erdal , Guleray Lafcı Naz , Ozalkak Şervan , Aycan Zehra , Savaş Erdeve Şenay ,

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.<...

hrp0094p2-315 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Characteristics of Patients with Noonan Syndrome Carrying a PTPN11 Mutation: The Recombinant Growth Hormone Treatment and Long-Term Follow-up

Karacan Kucukali Gulin , Okur Iclal , Erdeve Senay Savas , Muratoglu Sahin Nursel , Keskin Meliksah , Cetinkaya Semra ,

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

hrp0094p2-316 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Determining factors of a good response to treatment with growth hormone for the first 2 years

de Arriba Antonio , Cancela Vanesa , Juan Alcon Jose , Beisti Anunciacion , Ferrer Marta , Labarta Jose Ignacio ,

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0094p2-318 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Thyroid status in children with Turner syndrome

Peskavaya Nadzeya , Solntsava Anzhalika , Akulevich Natallia ,

Objectives: To evaluate the prevalence and characteristics of thyroid diseases in children with Turner syndrome (TS).Methods: This is a retrospective study, analyzing clinical data from medical records of 167 patients with TS from 3 to 18 years, who were regularly followed-up in the University hospital (Minsk). Depending on the karyotype, 4 groups of patients were identified: the first group with karyotype 45,X (n</e...

hrp0094p2-319 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Rare case report: A Chinese boy with MDPL syndrome cause by POLD1 gene mutation

Chen Qiuli , Zhang Jun , Guo Song , Li Yanhong , Ma Huamei , Chen Hongshan , Chen Zhixin ,

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

hrp0094p2-320 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Unusual Case of Gastrointestinal Bleeding; Expecting the Unexpected

Brooke Sarah ,

Introduction: To investigate the association between Turners Syndrome (TS) and Gastrointestingal Stromal tumours (GIST) in a single case study. There is a known link between RASopathies such as TS and solid tumours (gonadoblastoma, neuroblastoma and brain tumours,) however no known link between TS and GIST. The aim is to increase awareness into a rare condition and discuss growth hormone (GH) therapy.Case: An 11-year-old girl with backgr...

hrp0094p2-321 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Alterations in Metabolic profile and Body Composition in children with Silver Russell syndrome

PATTI Giuseppa , Malerba Federica , Schiavone Maurizio , GRAZIA CALEVO MARIA , Casalini Emilio , Fava Daniela , Napoli Flavia , Allegri Anna , Di Iorgi Natascia , Maghnie Mohamad ,

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

hrp0094p2-322 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Growth abnormalities in patients with Type 1 diabetes

Messaoudi Najoua , Bouichrat Nisrine , Assarrar Imane , Derkaoui Nada , Karrou Marouan , Rouf Siham , Latrech Hanane ,

Key-words: Type 1 diabetes - growth abnormalitiesIntroduction: Autoimmune type 1 diabetes is the most common endocrine disease in children. Like any other chronic disease, it can affect their growth. The aim of our work was to describe the different growth abnormalities observed in type 1 diabetic patients followed-up in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in the easte...

hrp0094p2-323 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A novel CEP57 mutation of mosaic variegated aneuploidy syndrome in a Chinese girl: a case report and review of literature

Feng Biyun , Zhang Qianwen , Wang Xiumin ,

Background: Mosaic variegated aneuploidy syndrome(MVA)is a rare genetic disease characterized by mosaic aneuploidies, intrauterine growth restriction, developmental delay, microcephaly, facial dysmorphism, mental retardation, and susceptibility to tumor. It is autosomal recessive and caused by mutations in BUB1B, CEP57, and TRIP13. This study hereby presents a 9-year-old girl with intrauterine growth restriction, short stature, microcephaly, faci...

hrp0094p2-324 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia: A Case Report and Literature Review

Wang Yirou ,

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect children’s growth and development through different endocrine hormone metabolic dysfunction.Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weigh...

hrp0094p2-325 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Impact of oral nutritional supplements on growth outcomes in underweight children (5: 12 years) with no systemic disease.

Soliman Ashraf , Itani Maya , Jour Celine , Elsiddig Suhair , Alyafei Fawzia , Alaaraj Nada ,

Background: Liquid nutritional supplements (ONS) are used successfully in the management of underweight infants and young children with undernutrition. However, their use in healthy old children and adolescents with underweight and/or poor weight gain has not been reported.Aim: This study describes the effect of OSN on nutritional outcomes in healthy underweight children and adolescents with no systemic illness.<p cl...

hrp0094p2-326 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Differential diagnosis of pre- and postnatal short stature revisited: 3-M syndrome

Karatsiolis Platonas , Kamrath Clemens , Rakicioglu Hande , Wudy Stefan ,

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...

hrp0094p2-327 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A case of a Floating-Harbor syndrome in a child with severe short stature.

Prosvirnina Anna , Bolmasova Anna , Melikyan Maria ,

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

hrp0094p2-328 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Excessive body hair, short stature and advanced bone age in a girl: Hypertrichosis versus adrenarche?

Soliman Ashraf , Elawwa Ahmed , Alaaraj Nada ,

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 =...

hrp0094p2-329 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Cornelia de Lange syndrome: a case report

KARROU Marouan , Derbel Salma , Assarrar Imane , Messaoudi Najoua , Benouda Siham , Rouf Siham , Latrech Hanane ,

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

hrp0094p2-330 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report.

Pankratova Maria , Kareva Maria ,

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

hrp0094p2-331 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Final and Near-final Adult Height and BMI after Long-term Growth Hormone Treatment in Patients with Turner Syndrome (TS)

Al Shaik Adnan , Daftardar Hadeer , Aziz Alghamdi Abdul , Jamjoom Majd , Awidah Saniah , E Ahmed Mohamed , Soliman Ashraf ,

Objectives: To assess the long-term effect of growth hormone (GH) therapy in children with Turner Syndrome (TS)Patients and methods: We evaluated retrospectively the anthropometric data of 10 girls with TS short children (height SDS <-2) who were diagnosed and treated with GH (0.05 mg/kg/day) between January 2007 till 2018 in our tertiary care center. Before and during GH treatment, auxological and biochemical parameters including He...

hrp0094p2-332 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evaluating Safety, Efficacy, and Pharmacokinetics of Weekly TransCon CNP in Children with Achondroplasia: Design of the ACcomplisH Trial

McDonnell Ciara , Irving Melita , Zarate Yuri , B. Hove Hanne , Hogler Wolfgang , Hoernschemeyer Daniel , Zhang Ying , Viuff Dorthe , Hartoft-Nielsen Marie-Louise , Beckert Michael , Savarirayan Ravi ,

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...