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Objectives: To improve adult height in pubertal girls with a poor height prediction, treatment with growth hormone (GH) can be used in combination with a gonadotropin releasing hormone agonist (GnRHa), to delay closure of the growth plates. However, there are few studies to support this practice, and they show conflicting results. The objective of this trial is to assess the safety and efficacy of this combination treatment in early pubertal girls with a short predicted height, in comparison with matched controls. Design, patients, and methods: We designed an open-label, multicenter, interventional case-control study. Early pubertal girls with predicted adult height (PAH) below -2.5 SDS, were recruited in tertiary care centers in Belgium. They were treated for four years with GH and GnRHa. The girls were followed until adult height (AH) was reached. AH vs PAH, AH vs Height at start, and AH vs Target Height (TH) were evaluated, as well as safety parameters. Control data were assembled from historical patient files or from patients who preferred not to participate in the study. Results: Sixteen girls with mean age (± SD) at start of 11.0 years (± 1.3) completed the study protocol and follow-up. Their mean height (± SD) increased from 131.3 ± 4.1 cm (-2.3 ± 0.7 SDS) at start of treatment to 159.8 ± 4.7 cm (-1.1 ± 0.7 SDS) at AH. In matched controls, height increased from 132.3 ± 4.2 cm (-2.4 ± 0.5 SDS) to 153.2 ± 3.4 cm (-2.1 ± 0.6 SDS) (p<0.001). AH surpassed initial PAH by 12.0 ± 2.6 cm in treated girls; and by 4.2 ± 3.6 cm in the controls (p<0.001). Most treated girls reached normal adult height (>-2SD) (87.5%) and 68.7% reached or superseded the target height (TH), which was the case in only a minority of the controls (37.5% and 6.2%, respectively) (p= 0.003 and 0.001). A serious adverse event possibly related to the treatment, was a fracture of the metatarsals. Conclusion: A four-year GH/GnRHa treatment in early pubertal girls with a poor PAH seems safe and result, SCOPUS: ar.j, info:eu-repo/semantics/published

STUDY QUESTION: What is the long-term outcome of individuals born with bilateral testicular regression (BTR) in relation to its underlying etiology? SUMMARY ANSWER: Statural growth and pubertal development are adequate with incremental doses of testosterone replacement therapy (TRT); however, penile growth is often suboptimal, especially in those with a suspected genetic etiology (i.e. heterozygous DHX37 variants) or a micropenis at birth. WHAT IS KNOWN ALREADY: BTR is a rare and poorly understood condition. Although a vascular origin has been postulated, heterozygous missense variants in DHX37 have been attributed to the phenotype as well. How these various etiologies impact the clinical phenotype, gonadal histology and outcome of BTR remains unclear. STUDY DESIGN, SIZE, DURATION: For this cross-sectional study, individuals with BTR were recruited in eight Belgian pediatric endocrinology departments, between December 2019 and December 2022. A physical exam was performed cross-sectionally in all 17 end-pubertal participants and a quality of care questionnaire was completed by 11 of them. Exome-based panel testing of 241 genes involved in gonadal development and spermatogenesis was performed along with a retrospective analysis of presentation and management. A centralized histological review of gonadal rests was done for 10 participants. PARTICIPANTS/MATERIALS, SETTING, METHODS: A total of 35 participants (33 with male, 1 with female, and 1 with non-binary gender identity) were recruited at a mean age of 15.0 ± 5.7 years. MAIN RESULTS AND THE ROLE OF CHANCE: The median age at presentation was 1.2 years [0-14 years]. Maternal gestational complications were common (38.2%), with a notably high incidence of monozygotic twin pregnancies (8.8%). Heterozygous (likely) pathogenic missense variants in DHX37 (p.Arg334Trp and p.Arg308Gln) were found in three participants. No other (likely) pathogenic variants were found. All three participants with a DHX37 variant had a microph, SCOPUS: ar.j, info:eu-repo/semantics/published

BACKGROUND: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. SUMMARY: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. CONCLUSIONS: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to

Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. Conclusions: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to, SCOPUS: re.j, DecretOANoAutActif, info:eu-repo/semantics/published

Background Obesity is a chronic disease with limited treatment options in pediatric patients. Liraglutide may be useful for weight management in adolescents with obesity. Methods In this randomized, double-blind trial, which consisted of a 56-week treatment period and a 26-week follow-up period, we enrolled adolescents (12 to <18 years of age) with obesity and a poor response to lifestyle therapy alone. Participants were randomly assigned (1:1) to receive either liraglutide (3.0 mg) or placebo subcutaneously once daily, in addition to lifestyle therapy. The primary end point was the change from baseline in the body-mass index (BMI; the weight in kilograms divided by the square of the height in meters) standard-deviation score at week 56. Results A total of 125 participants were assigned to the liraglutide group and 126 to the placebo group. Liraglutide was superior to placebo with regard to the change from baseline in the BMI standard-deviation score at week 56 (estimated difference, −0.22; 95% confidence interval [CI], −0.37 to −0.08; P=0.002). A reduction in BMI of at least 5% was observed in 51 of 113 participants in the liraglutide group and in 20 of 105 participants in the placebo group (estimated percentage, 43.3% vs. 18.7%), and a reduction in BMI of at least 10% was observed in 33 and 9, respectively (estimated percentage, 26.1% vs. 8.1%). A greater reduction was observed with liraglutide than with placebo for BMI (estimated difference, −4.64 percentage points) and for body weight (estimated difference, −4.50 kg [for absolute change] and −5.01 percentage points [for relative change]). After discontinuation, a greater increase in the BMI standard-deviation score was observed with liraglutide than with placebo (estimated difference, 0.15; 95% CI, 0.07 to 0.23). More participants in the liraglutide group than in the placebo group had gastrointestinal adverse events (81 of 125 [64.8%] vs. 46 of 126 [36.5%]) and adverse events that led to discontinuation of the t

A Belgian updated consensus on the assessment and management of obesity. Obesity is the most prevalent chronic disease worldwide. The negative impacts of weight excess and obesity are considerable at the individual and collective levels, spreading across physical, mental, quality-of-life, societal and economic aspects. To give an example, only considering the economic burden of this health problem, a recent analysis estimated that weight excess reduces gross domestic product by 3.3% in OECD countries and those developed countries will spend 8.4% of their health budget to treat the consequences of excess weight.1 Fortunately, there are also favorable prospects for this health problem. The same analysis predicted that every single US dollar invested in addressing overweight will result in 5.6 US dollars of return in terms of economic benefits. At the individual level, it is proven that obesity management programs can improve or revert many symptoms or co-morbidities associated with obesity. [...]

Objective: Several criteria for first-year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predicted best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD). Design and methods: Height data of 129 GHD children (83 boys) who attained adult height and had been treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved from the Belgian GH Registry. The FYGR parameters were: (1) increase in height (ΔHt) SDS, (2) height velocity (HV) SDS, (3) ΔHV (cm/year), (4) index of responsiveness (IoR) in KIGS prediction models, (5) first-year HV SDS based on the KIGS expected HV curve (HV KIGS SDS), (6) near final adult height (nFAH) prediction after first-year GH treatment. Poor final height outcome (PFHO) criteria were: (1) total ΔHt SDS <1.0, (2) nFAH SDS <−2.0, (3) nFAH minus midparental height SDS <−1.3. ROC curve analyses were performed to define the optimal cut-off for FYGR parameters to predict PFHO. Only ROC curves with an area under the curve (AUC) of more than 70% were further analyzed. Results: Twelve, 22 and 10% of the children had respectively a total ΔHt SDS <1, nFAH SDS <−2, and nFAH minus midparental height SDS <−1.3. The AUC's ranged between 73 and 85%. The highest AUC was found for first-year ΔHt SDS to predict total ΔHt SDS <1, and predicted nFAH SDS to predict nFAH SDS <−2. The currently used FYGR criteria had low specificities and sensitivities to detect PFHO. To obtain a 95% specificity, the cut-off value (and sensitivity) of FYGR parameters were: ΔHt SDS <0.35 (40%), HV SDS <−0.85 (43%), ΔHV <1.3 cm/year (36%), IoR <−1.57 (17%), HV KIGS SDS <−0.83 (40%) to predict total ΔHt SDS <1; predicted nFAH SDS (with GH peak) <−1.94 (25%), predicted nFAH SDS (without GH peak) <−2.02 (25%) to predict nFAH SDS <−2. At these cut-offs, the amount of correctly diagnosed poor final responders equals the amount of false positiv, SCOPUS: ar.j, info:eu-repo/semantics/published

La survenue d’une pilosité pubienne précoce est souvent une source d’inquiétude, tant pour les familles que pour les médecins. Dans la majorité des cas, il ne s’agit que d’une variante de la normale ou prémature adrenarche. Cependant, cette situation peut être en rapport avec des pathologies potentiellement graves comme une hyperplasie congénitale des surrénales ou une tumeur surrénalienne ou gonadique qu’il convient de diagnostiquer et de prendre en charge.

X-linked acrogigantism (X-LAG) syndrome is a newly-described form of inheritable pituitary gigantism that begins in early childhood and is usually associated with markedly elevated growth hormone (GH) and prolactin secretion by mixed pituitary adenomas/hyperplasia. Microduplications on chromosome Xq26.3 including the GPR101 gene cause X-LAG syndrome. In individual cases random GH-releasing hormone (GHRH) levels have been elevated. We performed a series of hormonal profiles in a young female sporadic X-LAG syndrome patient and subsequently undertook in vitro studies of primary pituitary tumor culture following neurosurgical resection. The patient demonstrated consistently elevated circulating GHRH levels throughout preoperative testing, which was accompanied by marked GH and prolactin hypersecretion; GH demonstrated a paradoxical increase following TRH administration. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Co-incubation with GHRH and the GHRH receptor antagonist, acetyl-(D-Arg²)-GHRH (1-29) amide, blocked the GHRH-induced GH stimulation; the GHRH receptor antagonist alone significantly reduced GH release. Pasireotide, but not octreotide, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. GHRH hypersecretion can accompany the pituitary abnormalities seen in X-LAG syndrome. These data suggest that the pathology of X-LAG syndrome may include hypothalamic dysregulation of GHRH secretion, which is in keeping with localization of GPR101 in the hypothalamus. Therapeutic blockade of GHRH secretion could represent a way to target the marked hormonal hypersecretion and overgrowth that characterizes X-LAG syndrome.

BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been described in PWS long before the development of obesity. Ghrelin is found in both acylated (AG) and unacylated (UAG) forms in the circulation. In contrast to AG, UAG has been shown to inhibit food intake and to be elevated in anorexia nervosa. The present project is aiming to determine the underlying mechanisms driving the different nutritional phases in PWS. METHODS: Measurement of at least 4 h-fasting plasma acylated and unacylated ghrelin in 37 infants with a genetic diagnosis of PWS aged from 1 month to 4 years and in 100 age-matched controls without endocrine disorder recruited prior to minor surgery. One blood sampling was analysed for each patient/control and clinical data were recorded. Eleven PWS infants underwent repetitive blood samples at 3 or 6-month intervals during routine visits. RESULTS: In infants with PWS, AG is not elevated (p = 0.45), UAG is significantly higher (p = 0.0044; confidence interval 1.06;1.33) resulting in a low AG/UAG ratio (p = 0.0056; confidence interval 0.76;0.95) compared to controls. CONCLUSION: Unlike children and adults with PWS that have high AG and AG/UAG ratio, infants with PWS have elevated UAG that supports the concept of anorexia in the early phases of the disease. The change in AG/UAG ratio possibly drives the switch from failure to thrive to obesity. CLINICAL TRIAL REGISTRATION: NCT02529085 .

Background/Aim: To validate prediction models for near final adult height (nFAH) by Ranke et al. [Horm Res Paediatr 2013;79:51-67]. Methods: Height data of 127 (82 male) idiopathic growth hormone (GH)-deficient children, treated with GH until nFAH, were retrieved from the database of the Belgian Society for Pediatric Endocrinology and Diabetology (BESPEED). nFAH was predicted after first-year GH treatment, applying prediction models by Ranke et al. Bland-Altman plots and Clarke error grid analyses were performed to assess clinical significance of the differences between observed and predicted nFAH. Results: In males, the predicted nFAH was higher than the observed nFAH (difference: 0.2 ± 0.7 SD; p < 0.01). In females, there was no significant difference. Bland-Altman analyses showed that the means of the differences between observed and predicted nFAH were close but not equal to zero, with overprediction for smaller heights and underprediction for taller heights. Clarke error grid analysis: in males, 59-61% of the predicted nFAH were within 0.5 SDS and 88% within 1.0 SDS from the observed nFAH; in females, 40-44% of the predicted nFAH were within 0.5 SDS and 76-78% within 1.0 SDS from the observed nFAH. Conclusion: Ranke's models accurately predicted nFAH in females and overpredicted nFAH in males by about 1.5 cm. In most individuals, the predicted nFAH was within 1 SDS of observed nFAH. These models can be of help in giving realistic expectations of adult height

Background/Aim: To validate prediction models for near final adult height (nFAH) by Ranke et al. [Horm Res Paediatr 2013;79:51-67]. Methods: Height data of 127 (82 male) idiopathic growth hormone (GH)-deficient children, treated with GH until nFAH, were retrieved from the database of the Belgian Society for Pediatric Endocrinology and Diabetology (BESPEED). nFAH was predicted after first-year GH treatment, applying prediction models by Ranke et al. Bland-Altman plots and Clarke error grid analyses were performed to assess clinical significance of the differences between observed and predicted nFAH. Results: In males, the predicted nFAH was higher than the observed nFAH (difference: 0.2 ± 0.7 SD; p < 0.01). In females, there was no significant difference. Bland-Altman analyses showed that the means of the differences between observed and predicted nFAH were close but not equal to zero, with overprediction for smaller heights and underprediction for taller heights. Clarke error grid analysis: in males, 59-61% of the predicted nFAH were within 0.5 SDS and 88% within 1.0 SDS from the observed nFAH; in females, 40-44% of the predicted nFAH were within 0.5 SDS and 76-78% within 1.0 SDS from the observed nFAH. Conclusion: Ranke's models accurately predicted nFAH in females and overpredicted nFAH in males by about 1.5 cm. In most individuals, the predicted nFAH was within 1 SDS of observed nFAH. These models can be of help in giving realistic expectations of adult height., SCOPUS: ar.j, info:eu-repo/semantics/published

La petite taille est un motif de consultation fréquent en pédiatrie. L’identification du patient nécessitant un suivi est rendue difficile par la variété des évolutions individuelles de croissance. Celles-ci sont influencées entre autres par l’histoire familiale et son profil d’évolution pubertaire, le status nutritionnel et la santé de l’enfant. La plupart des signes suggestifs d’une pathologie de la croissance pourront être dépistés à l’anamnèse ou l’examen clinique. Par la suite, l’utilisation d’outils de mesure validés (définition de petite taille, vitesse de croissance, taille cible, etc.) et l’usage de référentiels adéquats seront des éléments clés dans la mise au point de l’enfant de petite taille. Cette prise en charge de première ligne permettra d’orienter vers un suivi spécialisé, ou de rassurer l’enfant grandissant en concordance avec le profil de croissance familiale, [First-line management of the child with short stature] Pediatric consultation is frequently sought out for short stature. Identifying patients who would require follow-up is complicated by a variety of individual growth trends, which are influenced among others by the family history and pubertal profile, and the child’s nutritional status and health. Most suggestive signs of growth pathology can be detected by taking the family medical history or conducting the child’s clinical examination. The use of both validated measurement tools, such as the definition of small child stature, growth rate, target size, and appropriate reference tools will be key elements in the assessment of a child with short stature. This first-line management is to either direct the child towards specialized monitoring or reassure the family that the child is growing according to parental growth profile

L’obésité en âge pédiatrique s’associe à un taux de complications médicales et psychologiques élevé dès l’enfance et à l’âge adulte, et ce indépendamment du poids à l’âge adulte. Une prise en charge précoce, positive, partant des compétences des familles est indispensable et doit éviter que le jeune et sa famille ne soient confrontés à une série d’échecs qui leur laissera penser que l’obésité de leur enfant est une fatalité. Cette prise en charge cherchera à rééquilibrer la balance énergétique mais inclura aussi un support familial, une approche adaptée à l’enfant et visera des modifications graduelles à long terme, [Management of overweight children and adolescents] The rising prevalence of obesity among children and adolescents raises the question as to how to treat these children in an optimal manner. While most obese children exhibit no specific medical disorder responsible for their obesity, they do, in fact, suffer from obesity-related co-morbidities. This highlights the need for an early identification and appropriate management of overweight children, which should involve the entire family.

BACKGROUND: Cushing's syndrome (CS) is uncommon in childhood and adolescence. Variable presentation with subtle symptoms and signs can make diagnosis difficult. CASE REPORT: We report the case of a 17-year-old girl referred for acne and progressive weight gain with an adrenocorticotropic hormone-independent CS. A computed tomography scan of the adrenals showed normal-sized adrenal glands with discrete bilateral shape irregularity. Bilateral adrenalectomy was performed and the histopathological findings were characteristic of primary pigmented nodular adrenocortical disease (PPNAD). Genetic analysis confirmed a germline mutation of the PRKAR1A gene. The same mutation was found in her sister, mother, and maternal grandfather. Endocrine tests showed that the sister of our patient also presented PPNAD requiring bilateral adrenalectomy and a similar histopathological pattern was observed. No other features of Carney complex was found among all affected members of the family. CONCLUSION: It is exceptional for PPNAD to be an isolated phenomenon as well as being revealed by progressive weight gain in adolescence

La puberté précoce (PP) est un motif fréquent de consultation en pédiatrie. C’est un problème particulièrement d’actualité puisque l’âge de début de la puberté semble s’abaisser. La PP est définie comme l’apparition de caractères sexuels secondaires s’accompagnant d’une accélération de croissance et d’une maturation osseuse, avant 8 ans chez la fille et 9 ans chez le garçon. Il faut distinguer la PP centrale mettant en jeu la sécrétion pulsatile deGonadotropin-Releasing Hormone ( GnRH), de la PP périphérique due à une sécrétion de stéroïdes sexuels par les gonades ou les surrénales. Le traitement de la PP centrale a été révolutionné par l’utilisation d’agonistes retard de la GnRH., Precocious puberty (PP) is one of the most common conditions encountered in pediatric endocrinology practice. Recently, articles focused on increasingly early pubertal development have been published in the lay press, resulting in numerous families' questions about their children's pubertal development. PP can be defined as onset of secondary sexual characteristics, acceleration of growth velocity, and rapid bone maturation that occur earlier than normal with respect to gender, racial, or ethnical background (usually 8 years for girls and 9 for boys). PP etiologies may be subdivided into gonadotropin-releasing hormone (GnRH)-dependent and GnRH-lndependent causes. GnRH-dependent PR often termed "central PP", Is commonly treated using GnRH agonists

Le syndrome de Prader-Willi (SPW) est une maladie neurogénétique complexe et rare caractérisée par une hypotonie néonatale sévère, une hyperphagie et une obésité d’apparition précoce, une petite taille, un hypogonadisme et des troubles de l’apprentissage et du comportement. Le diagnostic, la prise en charge précoces et le traitement par GH ont transformé l’évolution de ces patients. Des réactions négatives à certains médicaments ou anesthésie, une insensibilité à la douleur, l’absence de vomissements, l’absence de température peuvent compliquer le diagnostic et la prise en charge de situations médicales urgentes Article Paru dans le numéro spécial : "Maladies rares : mieux les connaître et les reconnaître"

Background. Efforts are needed to improve the long-term efficiency of childhood obesity treatment. To adapt strategies, the identification of subgroups of patients with a greater weight loss may be useful. Objective. To analyze the results of a chronic care program for childhood obesity and to determine baseline factors (medical, dietary, and psychosocial) associated with successful weight loss. Subjects and Method. We set up a family-targeted and individually adapted interdisciplinary long-term care program. We reviewed the medical files of 144 children (59 boys and 85 girls; 10.5 ± 3.1 y; mean BMI-z-score: 2.73 ± 0.62) who had ≥2 interdisciplinary visits and ≥1-year treatment. Results. Mean treatment length was 2.2 y (1-6.7 y) with 3 ± 1 visits/year. The duration of treatment did not depend on the initial weight loss, but this was predictive of the weight change over time. Furthermore any additional weight loss was observed with time whatever the initial weight change. High levels of physical activity and daily water intake from baseline conditions were associated with a greater weight loss after 9 months of intervention. In contrast, a high baseline consumption of soft drinks resulted in lower weight loss. Family specific factors such as being a single child or the child's family support were identified as baseline factors which may contribute to better results. Conclusion. Our study suggests that the benefit of a chronic weight control program supports the need for its integration into the current concept of treatment. Better prevention policy and parental support may improve the success of the childhood obesity treatment.

Since heterozygous familial hypercholesterolemia (HeFH) is a disease that exposes the individual from birth onwards to severe hypercholesterolemia with the development of early cardiovascular disease, a clear consensus on the management of this disease in young patients is necessary. In Belgium, a panel of paediatricians, specialists in (adult) lipid management, general practitioners and representatives of the FH patient organization agreed on the following common recommendations. 1. Screening for HeFH should be performed only in children older than 2 years when HeFH has been identified or is suspected (based on a genetic test or clinical criteria) in one parent.2. The diagnostic procedure includes, as a first step, the establishment of a clear diagnosis of HeFH in one of the parents. If this precondition is satisfied, a low-density-lipoprotein cholesterol (LDL-C) levelabove 3.5 mmol/L (135 mg/dL) in the suspected child is predictive for differentiating affected from non-affected children. 3. A low saturated fat and low cholesterol diet should be started after 2 years, under the supervision of a dietician or nutritionist.4. The pharmacological treatment, using statins as first line drugs, should usually be started after 10 years if LDL-C levels remain above 5 mmol/L (190 mg/dL), or above 4 mmol/L (160 mg/dL) in the presence of a causative mutation, a family history of early cardiovascular disease or severe risk factors. The objective is to reduce LDL-C by at least 30% between 10 and 14 years and, thereafter, to reach LDL-C levels of less than 3.4 mmol/L (130 mg/dL).CONCLUSION: The aim of this consensus statement is to achieve more consistent management in the identification and treatment of children with HeFH in Belgium.

Since heterozygous familial hypercholesterolemia (HeFH) is a disease that exposes the individual from birth onwards to severe hypercholesterolemia with the development of early cardiovascular disease, a clear consensus on the management of this disease in young patients is necessary. In Belgium, a panel of paediatricians, specialists in (adult) lipid management, general practitioners and representatives of the FH patient organization agreed on the following common recommendations.1.Screening for HeFH should be performed only in children older than 2 years when HeFH has been identified or is suspected (based on a genetic test or clinical criteria) in one parent.2.The diagnostic procedure includes, as a first step, the establishment of a clear diagnosis of HeFH in one of the parents. If this precondition is satisfied, a low-density-lipoprotein cholesterol (LDL-C) level above 3.5mmol/L (135mg/dL) in the suspected child is predictive for differentiating affected from non-affected children.3.A low saturated fat and low cholesterol diet should be started after 2 years, under the supervision of a dietician or nutritionist.4.The pharmacological treatment, using statins as first line drugs, should usually be started after 10 years if LDL-C levels remain above 5mmol/L (190mg/dL), or above 4mmol/L (160mg/dL) in the presence of a causative mutation, a family history of early cardiovascular disease or severe risk factors. The objective is to reduce LDL-C by at least 30% between 10 and 14 years and, thereafter, to reach LDL-C levels of less than 3.4mmol/L (130mg/dL).Conclusion: The aim of this consensus statement is to achieve more consistent management in the identification and treatment of children with HeFH in Belgium. © 2011 Elsevier Ireland Ltd., SCOPUS: re.j, info:eu-repo/semantics/published

Background: Little is known regarding long-term bone deficit in relationship with the modalities of cancer therapy among survivors of childhood malignancy. Methods: Bone mineral density (BMD) was evaluated at lumbar spine (LS), total hip and femoral neck in 89 patients (44 men) more than 5 years after remission of childhood acute lymphoblastic leukemia (ALL) or non-Hodgkin lymphoma (NHL). The patients had received chemotherapy (group I; n = 41), chemotherapy and cranial irradiation (group II; n = 32), or bone marrow transplantation (BMT) with total body irradiation (TBI) (group III; n = 16). All patients had received methylprednisolone and 47 additional dexamethasone treatment. Results: A reduced BMD at any site was observed in 44 of the 89 patients, more frequently in men (66%) than women (33%) (p < 0.001). In comparison with group I, mean BMD was significantly lower at all sites in group II and at the total hip and femoral neck in group III. A multivariate analysis showed independent significant influences of male gender at LS (p < 0.001) and of type of treatment and dexamethasone at the hip (p < 0.05). Conclusions: A low bone mass is frequently observed in adult survivors of childhood ALL and NHL, and is associated with male gender at the LS and with dexamethasone treatment, cranial irradiation and BMT/TBI at the hip.

A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. We discuss the genetic profile of the thyroid tumor in which a large somatic deletion of APC gene was found and the physiopathology of thyroid carcinoma in patients with germline APC mutation. We also point out the uncommon phenotype in this young girl with early multiple neoplasias and the difficulties of management of such familial adenomatous polyposis patients with occurrence of extracolonic cancers that require the use of potential trigger agents as radiotherapy or chemotherapy.