ESPE Abstracts

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

Introduction: Insulin stress test (IST) to diagnose growth hormone (GH) deficiency is rarely used by paediatric endocrine teams in the United Kingdom, due to concerns over safety. We share our experience of undertaking modified IST in children, with regards to safety and outcomes.Methods: We adapted the protocol for insulin stress test, proposed by Galloway et al to undertake pituitary stimulation test for our c...

Objectives: Convenience of growth hormone (GH) use can lead to good adherence and result in satisfactory treatment outcomes. The aim of this study is to compare the long-term efficacy of weekly GH with daily GH in children with GH deficiency (GHD).Methods: Clinical data of 966 GHD children (773 treated with daily GH and 193 treated with weekly GH) were obtained from the “LG Growth Study”, which is an observat...

Introduction: The transition period between childhood and adulthood in patients with growth hormone deficiency is a vulnerable period during the follow-up. Different consensuses have established follow-up and reassessment protocols for this period in order to clarify whether GHD persists. The benefits of maintaining treatment during this period are widely documented on the metabolic, vascular, bone and in terms of quality of life and well-being.<p class="a...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is a novel injection device for administering recombinant-human growth hormone (r-hGH), integrated with a smart knob attachment for data transmission that combines ease of use with advanced capabilities. Integration with Growzen™ digital ecosystem empowers healthcare professionals (HCPs) with remote monitoring of patient adherence, thereby promoting optimal cl...

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

Background: Concerns about a child's growth are one of the most common topics parents express during pediatric visits and are a leading cause for referral to a pediatric endocrinologist. For the general pediatric, when short stature is diagnosed, its clinical management remains a challenge.Objective: The aim of the study was to approach and understand the perception from the general pediatrician about short stature,...

Background: Pediatric growth hormone deficiency (pGHD) is associated with growth attenuation/deceleration, short stature, delayed bone maturation, and metabolic defects. Daily recombinant human growth hormone (rhGH) treatment promotes linear growth and increases growth rate; however, it may present a substantial burden for patients and caregivers. This may lead to low adherence, limiting the clinical effect of treatment. This study assesses the health-related ...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over many years. Connected digital health devices can facilitate GH treatment by automating the injection process, which reduces anxiety, and collecting injection data in real-time so that accurate adherence information is available to healthcare professionals (HCPs). In developing new digital health solutions, HCP perspectives should be considered.<strong...

Introduction: It is thought that long-term growth hormone (GH) treatment may impair hepatic glucose production and insulin-dependent glucose utilization, and therefore it is attributed that GH may adversely affect glucose metabolism.Objective: In our study, we aimed to examine the effects of GH treatment on insulin sensitivity and glucose metabolism in patients with GH deficiency after 1-year of treatment.<p class="a...

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation. GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has in...

A 4.9-year-old girl presented with a 6-month history of excessive body odour and suspected breast development. Family history was significant for presence of Lynch syndrome in both her father and paternal grandmother. At presentation, she was pre-pubertal but tall for her age. Her height was 124 cm (SDS 3.5), and weight was 27.1 kg (SDS 2.69). Her height velocity was accelerated at 15 cm/year and bone age was advanced at 7 years. Investigations revealed an elevated IGF-1 (500 ...

Background: Digital health solutions, such as the Growzen™ buddy smartphone application (app), can facilitate adherence to recombinant human growth hormone (r-hGH) treatment for patients with growth disorders. The app alerts patients when it’s time for an injection and allows patients and their caregivers to self-monitor growth, to build a routine and improve adherence. The app also contains educational resources to empower patients to be active in...

Norditropin® was approved for children with short stature due to NS in Japan in 2017. The aim of this post-marketing surveillance study was to evaluate long-term safety and effectiveness of Norditropin® for the approved indication. This real-world non-interventional study (NCT03435627) was conducted February 2018–January 2022. Seventy patients enrolled: 35 received Norditropin® after study initiation (new patients); 35 were previously ra...

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

Background: It has been reported that 25–75% of patients with diagnosis of growth hormone deficiency (GHD) may show normal growth hormone (GH) responses in repeated stimulation tests after completion of treatment. Retests are typically conducted following completion of growth phase. In a small number of studies retests are conducted during early stages of GH therapy. Accuracy of early retesting to exclude GHD can be evaluated by adult heights of those wh...

Children with ISS vary in their response to GHT. We conducted a post hoc analysis to identify clinical characteristics associated with very good or poor response during year 1 of GHT in a subset of 1550 GH naïve children with ISS from NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). We included patients aged 3–11 years (males) or 3–10 years (females) at treatment start, prepubertal throughout year 1 of treatment, with height SDS...

Background: Long-term treatment with recombinant human growth hormone (r-hGH) is often challenging for children and adolescents, their caregivers and healthcare professionals (HCPs), as treatment requires daily injections over several years. Connected digital health devices facilitate this by automating the injection process to improve comfort, reduce anxiety and collect GH treatment data so that accurate adherence information is available to HCPs in real-time...

Introduction: Insulin-like growth factor 1 receptor (IGF1R) mutations lead to systemic disturbances in growth due to widespread IGF1R expression throughout the body. IGF1R is expressed by innate and adaptive immune cells, facilitating their development and exerting immunomodulatory roles in the periphery.Case Report: We detected a novel heterozygous variant c.664 C > T (NM_000875) of IGF1R in a Chinese family with sho...

Introduction: The diagnosis of growth hormone (GH) deficiency (GHD) is complicated by the low specificity of GH testing, especially in children before and during early pubertal stages. Sex steroid priming reduces false positive results in pre- and early pubertal children. However, only a small number of studies have assessed its efficacy in improving the diagnostic accuracy of GHD investigations.Aim: To evaluate the effe...

Objective: In boys during puberty who were undergoing recombinant human growth hormone (rhGH) treatment, we compared the therapeutic efficacy and any adverse reactions, of co-therapy with letrozole/gonadotropin releasing hormone analog (GnRHa).Methods: Fifty-six pubertal growth hormone deficiency (GHD) boys were studied, they were treated with the combination of letrozole and rhGH (letrozole group) or GnRHa and rhGH (GnR...

Context: Physiological growth hormone is secreted during the slow-wave sleep. Traditionally, growth hormone (GH) therapy is given in daily GH injections before sleep. This schedule better imitates the physiological diurnal variation of GH secretion and action. Late-night daily injections have been claimed to be associated with sleep disturbances and insomnia, yet there is no hard evidence supporting this contention. Morning and evening GH injections produce co...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...

Key words: Descriptive study, short stature, Growth Hormone deficiency, Growth Hormone analogue, Lebanon, NDS-UMC, Byblos, single center experience.Background: There is a lack of national data concerning growth hormone deficiency treatment in Lebanon. The aim of this study is to describe the height gained under growth hormone therapy of 39 patients diagnosed with growth hormone deficiency (GHD).<st...

Background: Although it has been recommended to start treatment in the range of 22-35 µg/kg/day in growth hormone (GH) deficiency, individualized dose selection is more preferred for those patients instead of a fixed dose. However, there is no consensus as to which dose should be started for which patient. In this study, we aimed to reveal the factors that affect the clinicians' preferences in the selection of the starting dose of GH treatment.<...

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...

Introduction: Small for gestational age (SGA) is a common condition affecting around 10% of all newborns, and it is associated with an increased risk of short stature and other health problems later in life. Growth hormone deficiency (GHD) is a well-known cause of growth failure in children, and it is estimated to affect approximately 1 in 4.000-10.000 children. However, the prevalence of GHD in SGA children with short stature is not well established. Early de...

V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumfere...

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 &pm; 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

Background: Children with biallelic GHRHR gene pathogenic variants share a phenotype of growth failure starting in infancy and resulting in a proportionate short stature and bone age delay due to a complete isolated growth hormone (GH) deficiency. The genotype ranges from rare promotor mutations to the more frequent splicing mutations, some genotypes being specific to certain geographic areas. Diagnosis is mainly made around the age of 7 years and more often i...

Background and Aim: Priming with sex steroids before growth hormone (GH) stimulation tests is considered to increase the specificity of the GH stimulation tests, however, its use in the diagnosis of growth hormone deficiency (GHD) is still controversial. Purpose of this study is to analyze efficacy of sex steroid priming in the diagnosis of GHD.Methods: The study comprised 115 peripubertal boys who were diagnosed with is...

Background: The efficacy of growth hormone (GH) treatment in short, healthy children diagnosed with growth hormone deficiency (GHD) or those meeting the criteria of idiopathic short stature (ISS) suggest that an overlap exists between these two conditions. Although flawed and inconsistent, growth hormone stimulation tests (GHST) are the key diagnostic tool differentiating between GHD and ISS affecting clinical decisions such as treatment eligibility and dose.<...

Introduction: Management of pediatric patients with short stature and poor adult height prognosis it’s challenging and effectiveness of treatment with growth-promoting agents is controversial when linear growth is ending. Aromatase inhibitors (AI) have become a therapeutic option as they promote slowdown of bone maturation and increase final height, but yet is a non-approved indication.Aim: To conduct a survey abou...

Background: The diagnosis of growth hormone deficiency (GHD) requires the subnormal responses to two provocation tests. This study evaluated the value of the growth hormone provocation test using arginine and insulin-induced hypoglycemia to diagnose growth hormone deficiency (GHD).Method: This study included 294 children with short stature (136 girls and 158 boys) who underwent a growth hormone provocation test using the...

Introduction: The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement. The IGF-1 concentrations significantly above the reference range may increase total the risk of possible side effects. High IGF-1 concentration is one of the reasons for rhGH dose reduction which affects the response to treatment.<st...

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

Objectives: Response to rGH during the first year of treatment is considered indicative of its effectiveness for the improvement of final height. The iGRO software assesses the response to rGH in children with idiopathic growth hormone deficiency (IGHD) or small for gestational age (SGA) based on age, gender, gestational age, birthweight, rGH dose, maximal GH during stimulation tests, as well as weight and height measurements on follow-up visits. The aim was t...

Purpose: The aim of this study is to investigate the influence of body mass index (BMI) on therapeutic effect in prepubertal children with idiopathic growth hormone deficiency (IGHD).Methods: We conducted a retrospective study by chart review in a single center. A total of 138 patients (male n=90, female n=48) with idiopathic growth hormone deficiency who were was treated growth hormone for at least 2 y...

Background and aim: Medulloblastoma is a highly malignant childhood brain tumor, requiring treatment with high dose cranio-spinal irradiation and aggressive chemotherapy. Survivors of are at high risk for multiple endocrine deficiencies, including growth retardation and growth hormone (GH) deficiency. Previous studies reported decreased final adult height in survivors of childhood medulloblastoma, with height standard deviation score (SDS) ranging from -1.9 to...

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. In children treated early, catch-up growth is excellent, with a normal final height. A final height gain of 30 cm can be expected on average. However, it has long been recognized that there is variability in the magnitude of individ...

Introduction: GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has insulin-like actions.Objectives: To investigate the value of using the IGF1/GH peak ratio in relation to the anthropometric data of children with growth hormone deficiency (GHD) before and after a year of GH therapy.Patients and Methods...

Introduction: Easypod-connect™ for childhood growth disorders is a unique connected system that enables the transmission of injection adherence information for recombinant human growth hormone (r-hGH). Although this system has the potential to facilitate greater adherence, observational studies have shown declining adherence over prolonged periods when used without additional support. Supplemental nurse practitioner support has been envisaged but not inv...

Background: Osteopenia of prematurity (OOP) is serious but common concerns for parents of premature babies. Reduced bone mineralization results in OOP, or low bone density. The incidence of OOP has increased as a result of medical advancements that have allowed more very low birth weight (VLBW) infants to survive. It is inversely proportional to the intrauterine gestational age (GA).Objective: to study the risk factors a...

Introduction: Characteristic features in patients with a duplication at 5q35.2q35.3 encompassing NSD1 are short stature, microcephaly, mild developmental delay, behavioural problems, digital anomalies and defects of internal organs. The above-mentioned features are reversed to Sotos syndrome phenotype, which is associated with a microdeletion in the same chromosomal region. In the literature, 41 patients were reported so far.Case...