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1.
Life (Basel) ; 14(3)2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38541645

RESUMO

Childhood obesity, affecting 29% of 7-9-year-olds across 33 European countries, is a significant public health challenge. Its persistence into adulthood poses grave health risks influenced by genetic, environmental, and socio-economic factors. Belgium introduced a new care pathway in December 2023, based on the Edmonton Obesity Staging System for Pediatrics (EOSS-P), addressing four health domains and staging obesity severity. This pathway operates across three levels: primary care physicians, Paediatric Multidisciplinary Obesity Management Centres (PMOCs), and Centers of Expertise for Paediatric Obesity Management (CEPOs). Each stage of EOSS-P demands tailored interventions. Early stages involve dietary interventions, physical activity promotion, and behavior modifications. As obesity severity progresses, treatments intensify, encompassing psychological support, anti-obesity medications, and, in some cases, bariatric surgery. Throughout these stages, the involvement of multidisciplinary teams is crucial, emphasizing family-based approaches and continuous monitoring. This article provides detailed guidelines for healthcare professionals, delineating interventions and recommendations tailored to each EOSS-P stage. It emphasizes a holistic approach that extends beyond BMI-based diagnosis, promoting personalized care and prompt escalations between care levels, thereby ensuring optimal management of childhood obesity. This comprehensive framework aims to address the complexities of childhood obesity, emphasizing the importance of timely and targeted interventions for better health outcomes.

2.
J Med Case Rep ; 17(1): 195, 2023 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-37179382

RESUMO

INTRODUCTION: Pure androgen-secreting adrenocortical tumors are a rare but important cause of peripheral precocious puberty. CASE PRESENTATION: Here, we report a pure androgen-secreting adrenocortical tumor in a 2.5-year-old boy presenting with penile enlargement, pubic hair, frequent erections, and rapid linear growth. We confirmed the diagnosis through laboratory tests, medical imaging, and histology. Furthermore, genetic testing detected a pathogenic germline variant in the TP53 gene, molecularly confirming underlying Li-Fraumeni syndrome. DISCUSSION: Only 15 well-documented cases of pure androgen-secreting adrenocortical tumors have been reported so far. No clinical or imaging signs were identified to differentiate adenomas from carcinomas, and no other cases of Li-Fraumeni syndrome were diagnosed in the four patients that underwent genetic testing. However, diagnosing Li-Fraumeni syndrome is important as it implies a need for intensive tumor surveillance and avoidance of ionizing radiation. CONCLUSION: In this article, we emphasize the need to screen for TP53 gene variants in children with androgen-producing adrenal adenomas and report an association with arterial hypertension.


Assuntos
Neoplasias do Córtex Suprarrenal , Síndrome de Li-Fraumeni , Puberdade Precoce , Masculino , Criança , Humanos , Pré-Escolar , Síndrome de Li-Fraumeni/complicações , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/genética , Genes p53 , Androgênios , Puberdade Precoce/etiologia , Neoplasias do Córtex Suprarrenal/complicações , Neoplasias do Córtex Suprarrenal/genética
3.
Front Endocrinol (Lausanne) ; 14: 1113750, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37008942

RESUMO

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 results in a clinically relevant and statistically significant increase in AH compared with matched historical controls. Clinical trial registration: ClinicalTrials.gov, identifier NCT00840944.


Assuntos
Hormônio do Crescimento Humano , Puberdade Precoce , Feminino , Humanos , Adulto , Criança , Hormônio do Crescimento , Hormônio Liberador de Gonadotropina , Estudos de Casos e Controles , Estatura , Hormônio do Crescimento Humano/uso terapêutico , Puberdade Precoce/tratamento farmacológico
4.
Reprod Biomed Online ; 44(5): 889-895, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35282994

RESUMO

RESEARCH QUESTION: Which early-diagnosed Klinefelter syndrome patients have been offered cryopreservation of testicular tissue as part of fertility preservation before spermatogonial stem cell (SSC) loss? Do these Klinefelter syndrome patients present with behavioural, cognitive and/or psychological problems? Does a testicular biopsy procedure have long-term effects on the gonadal development of Klinefelter syndrome patients? DESIGN: Early-diagnosed Klinefelter syndrome patients followed between 2009 and 2020 and offered testicular tissue banking in an experimental context at the Universitair Ziekenhuis Brussel were included. The prevalence of behavioural, cognitive and/or psychological problems was determined. Changes in testicular volume and in gonadal function (LH, FSH, testosterone and inhibin B [INHB]) were studied. RESULTS: Of the 48 Klinefelter syndrome patients included, 22 had testicular tissue removed (biopsy group) and 26 had no surgical intervention (control group). The need for specialized education was significantly higher in prenatally (P = 0.0159) and prepubertally (P = 0.0002) diagnosed Klinefelter syndrome patients. Psychological problems were significantly more prevalent in Klinefelter syndrome patients who did not opt for fertility preservation (P = 0.0447). In the first 4.2 (1.9-9.1) years after testicular biopsy, no difference in testicular volume was observed between the biopsied and the contralateral non-biopsied testes (P > 0.9999). After pubertal onset, no differences in LH, FSH, testosterone and INHB were found between the biopsy and the control groups (P = 0.1324 for LH, P > 0.9999 for FSH, P = 0.5433 for testosterone, P > 0.9999 for INHB). CONCLUSION: Early-diagnosed Klinefelter syndrome patients presented with behavioural, cognitive and/or psychological problems. Only psychological problems seemed to influence the decision towards fertility preservation. Follow-up data confirm that harvesting testicular tissue does not have a long-term impact on the gonadal development of Klinefelter syndrome patients.


Assuntos
Preservação da Fertilidade , Síndrome de Klinefelter , Biópsia , Feminino , Preservação da Fertilidade/métodos , Hormônio Foliculoestimulante , Seguimentos , Humanos , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/patologia , Masculino , Testículo/patologia , Testosterona
5.
Bone ; 158: 116368, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35181575

RESUMO

INTRODUCTION: This study investigates peri-pubertal changes in bone turnover markers, Wnt-signalling markers, insulin-like growth factor-1 (IGF-1) and sex steroid levels, and how they reflect skeletal development in peri-pubertal boys. MATERIALS AND METHODS: Population-based study in 118 peri-pubertal boys from the NINIOS cohort (age range at baseline 5.1-17.3 years) with repeated measurements at baseline and after two years. Serum levels of the classical bone turnover markers (BTM) procollagen type 1 N-terminal propeptide and carboxy-terminal collagen crosslinks, as well as sex-hormone binding globulin, IGF-1, osteoprotegerin, sclerostin and dickkopf-1 were measured using immunoassays. Sex steroids (estradiol, testosterone, and androstenedione) were measured using mass spectrometry and free fractions calculated. Dual energy x-ray absorptiometry was used for bone measurements at the lumbar spine and whole body. Volumetric bone parameters and bone geometry at the proximal and distal radius were assessed by peripheral QCT. Pubertal development was categorized based on Tanner staging. RESULTS: During puberty, sex steroid and IGF-1-levels along with most parameters of bone mass and bone size increased every next Tanner stage. In contrast, classical bone turnover markers and sclerostin peaked around mid-puberty, with subsequent declines towards adult values in late puberty. Especially classical BTM and sex steroid levels showed consistent associations with areal and volumetric bone parameters and bone geometry. However, observed associations differed markedly according to pubertal stage and skeletal site. CONCLUSION: Serum levels of sex steroids, IGF-1 and bone metabolism markers reflect skeletal development in peri-pubertal boys. However, skeletal development during puberty is nonlinear, and the relations between skeletal indices and hormonal parameters are nonlinear as well, and dependent on the respective maturation stage and skeletal site.


Assuntos
Fator de Crescimento Insulin-Like I , Puberdade , Adolescente , Densidade Óssea , Remodelação Óssea , Criança , Pré-Escolar , Estradiol , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Testosterona
6.
Pediatr Res ; 91(3): 699-704, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-33837256

RESUMO

BACKGROUND: Children born from mothers who underwent bariatric surgery were found to have an improved lipid profile and lower CRP levels compared to siblings born before surgery. We hypothesized that surgery before pregnancy might also influence endothelial function in the offspring. METHODS: Blood sample analysis, blood pressure (BP) measurement, and peripheral arterial tonometry (PAT) were performed in 142 children (median age 10.5 years), either born from mothers who underwent bariatric surgery (BS) before pregnancy (n = 36) from mothers with overweight/obesity (OW/OB) (n = 71) or from normal weight (NW) mothers (n = 35), allowing the determination of the Reactive Hyperemia Index (RHI) in 111 children. RESULTS: Children of the BS group had a higher diastolic blood pressure SDS and a lower RHI compared to the children of the OW/OB and NW group (1.32 versus 1.37 in OW/OB and 1.70 in NW; p = 0.004). After log transformation and correction for age, weight SDS, BMI SDS, body fat percentage, and diastolic BP SDS, RHI was comparable between the groups. CONCLUSIONS: Children of mothers who underwent bariatric surgery before pregnancy do not have a disturbed endothelial function before puberty, when their increased diastolic BP and degree of adiposity is taken into account. IMPACT: Children born after maternal bariatric surgery have a higher diastolic blood pressure without impaired endothelial function. To our knowledge, this is the first study that investigates the vascular function of children based on maternal characteristics during pregnancy. Adult offspring of mothers with obesity during pregnancy have an increased cardiovascular mortality. Since we cannot demonstrate a childhood-onset primary vascular dysfunction, this cardiovascular vulnerability might be more related to the hypertension and body adiposity. Thus, more emphasis should be made on the prevention of obesity and hypertension in the offspring at risk for development of obesity.


Assuntos
Cirurgia Bariátrica , Hipertensão , Adulto , Índice de Massa Corporal , Criança , Feminino , Humanos , Obesidade , Sobrepeso , Gravidez , Fatores de Risco
8.
Front Endocrinol (Lausanne) ; 12: 641543, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33815294

RESUMO

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.


Assuntos
Raquitismo Hipofosfatêmico Familiar/diagnóstico , Raquitismo Hipofosfatêmico Familiar/terapia , Fator de Crescimento de Fibroblastos 23/metabolismo , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Sociedades Médicas/organização & administração , Fosfatase Alcalina/metabolismo , Anticorpos Monoclonais Humanizados/administração & dosagem , Bélgica , Consenso , Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/genética , Humanos , Hipofosfatemia/complicações , Hipofosfatemia/genética , Comunicação Interdisciplinar , Osteomalacia/complicações , Osteomalacia/genética , Índice de Gravidade de Doença , Resultado do Tratamento , Vitamina D
9.
Pediatr Obes ; 16(5): e12749, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33200544

RESUMO

BACKGROUND: Bariatric surgery before pregnancy can result in improved maternal fertility. However, long-term data on the consequences at childhood age are currently lacking. METHODS: EFFECTOR is a prospective cohort study of children (aged 4 to 11 years) born to mothers who underwent bariatric surgery (BS) before pregnancy (n = 36), controls with overweight/obesity (OW/OB) matched on pre-pregnancy BMI (n = 36) and normal weight controls (NL) (n = 35). We performed prospective collection of anthropometric data, data on psychomotor development, school functioning and behaviour (Strengths and Difficulties Questionnaire (SDQ), Child Behaviour Checklist (CBCL)). RESULTS: The children born after bariatric surgery (BS) presented with the highest body-weight SDS (0.70 vs 0.14 in OW/OB and -0.09 in NL; P = .006) and BMI SDS (0.47 vs -0.02 in OW/OB and -0.42 in NL; P = .01). A higher excess in body fat percentage and waist circumference SDS were found in the BS group (5.7 vs 1.4 in OW/OB and -0.1 in NL; P < .001 and 0.61 vs 0.16 in OW/OB and -0.15 in NL; P = .04). The SDQ questionnaires revealed a higher amount of overall problems in the BS offspring (11.1 vs 7.5 in OW/OB and 8.1 in NL; P = .03), with a higher externalizing score at the CBCL (52.0 vs 44.2 in OW/OB and 47.0 in NL; P = .03). CONCLUSION: Maternal bariatric surgery does not appear to protect the offspring for childhood overweight and obesity. Parents reported more behaviour problems in these children, especially externally of nature.


Assuntos
Cirurgia Bariátrica , Obesidade Infantil , Adiposidade , Índice de Massa Corporal , Criança , Feminino , Humanos , Mães , Sobrepeso , Obesidade Infantil/epidemiologia , Gravidez , Estudos Prospectivos
10.
Hum Reprod ; 35(8): 1753-1764, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32649748

RESUMO

STUDY QUESTION: Is the distribution of immune cells and the testicular vasculature altered in testicular biopsies from patients with Klinefelter syndrome (KS)? SUMMARY ANSWER: Increased numbers of macrophages and mast cells, an increased expression of decorin and an increased blood vessel density were found in KS samples compared to controls. WHAT IS KNOWN ALREADY: Most KS patients are infertile due to an early germ cell loss. From puberty onwards, testicular fibrosis can be detected. How this fibrotic process is initiated remains unknown. STUDY DESIGN, SIZE, DURATION: In this study, the number of macrophages, mast cells and their secretory products were evaluated in KS, Sertoli cell only (SCO) and control patient samples. The association between immune cell numbers and level of fibrosis in KS tissue was examined. In addition, the vascularization within these testicular tissue biopsies was studied. For immunohistochemical evaluation, KS patients at different stages of testicular development were included: prepubertal (aged 4-7 years; n = 4), peripubertal (aged 11-17 years; n = 21) and adult (aged >18 years; n = 37) patients. In addition, testicular tissue biopsies of adult SCO (n = 33) and control samples for the three KS age groups (prepubertal n = 9; peripubertal n = 5; adult n = 25) were analysed. Gene expression analysis was performed on adult testicular tissue from KS (n = 5), SCO (n = 5) and control (n = 5) patients. PARTICIPANTS/MATERIALS, SETTING, METHODS: Adult (>18 years) KS, SCO and control testicular tissue biopsies were obtained during a testicular sperm extraction procedure. KS peripubertal (11-18 years), prepubertal (<11 years) and age-matched control biopsies were obtained from the biobank of the university hospital. Immunohistochemistry was used to determine the tubular structure (H/PAS), the number of spermatogonia (MAGE-A4), macrophages (CD68) and mast cells (tryptase) and the blood vessel density (Von Willebrand factor). In addition, quantitative real-time polymerase chain reaction was used to determine the expression of secretory products of macrophages and mast cells (tryptase, tumour necrosis factor alpha and decorin). MAIN RESULTS AND THE ROLE OF CHANCE: A significant increase in the number of macrophages (P < 0.0001) and mast cells (P = 0.0008) was found in the peritubular compartment of testes of adult KS patients compared to control samples. However, no association between the number of immune cells and the degree of fibrosis was observed. In adult SCO samples, a significant increase was seen for peritubular macrophage (P < 0.0001) and mast cell (P < 0.0001) numbers compared to control samples. In the interstitial compartment, a significant increase in mast cell number was found in adult SCO samples compared to KS (P < 0.0001) and control (P < 0.0001) tissue. A significant difference (P = 0.0431) in decorin expression could be detected in adult KS compared to control patients. Decorin expression was mostly seen in the walls of the seminiferous tubules. When comparing the vascularization between KS patients and age-matched controls, a significant increase (P = 0.0081) in blood vessel density could be observed only in prepubertal KS testicular tissue. LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: As controls for this study, testicular tissue biopsies of men who underwent a vasectomy reversal or orchiectomy were used, but these men may not represent fertile controls. In addition, a high variability in immune cell numbers, secretory products expression and number of blood vessels could be observed amongst all patient samples. WIDER IMPLICATIONS OF THE FINDINGS: Increased numbers of macrophages and mast cells have previously been described in non-KS infertile men. Our results show that these increased numbers can also be detected in KS testicular tissue. However, no association between the number of macrophages or mast cells and the degree of fibrosis in KS samples could be detected. Decorin has previously been described in relation to fibrosis, but it has not yet been associated with testicular fibrosis in KS. Our results suggest a role for this proteoglycan in the fibrotic process since an increased expression was observed in adult KS tissue compared to controls. Impaired vascularization in KS men was suggested to be responsible for the KS-related disturbed hormone levels. Our results show a significant difference in blood vessel density, especially for the smallest blood vessels, between prepubertal KS samples and age-matched controls. This is the first study to report differences between KS and control testicular tissue at prepubertal age. STUDY FUNDING/COMPETING INTEREST(S): The project was funded by grants from the Vrije Universiteit Brussel (E.G.) and the scientific Fund Willy Gepts from the UZ Brussel (D.V.S.). D.V.S. is a post-doctoral fellow of the Fonds voor Wetenschappelijk Onderzoek (FWO; 12M2819N). No conflict of interest is declared for this research project.


Assuntos
Síndrome de Klinefelter , Testículo , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Síndrome de Klinefelter/genética , Masculino , Túbulos Seminíferos , Células de Sertoli , Espermatogônias
11.
Int J Pediatr Endocrinol ; 2020: 14, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32699545

RESUMO

CASE PRESENTATION: We report for the first time a synchronous papillary and follicular thyroid carcinoma in a 12-year-old girl presenting with a large (5 cm diameter) left thyroid nodule, an increased left and right upper pole technetium tracer uptake at scintigraphy and hyperthyroidism. The uptake at the right lobe was explained by the crossing of the left nodule to the right site of the neck at Computed Tomography (CT) scanning. BACKGROUND: Although thyroid nodules are less common in children than in adults, there is more vigilance required in children because of the higher risk of malignancy. According to literature, about 5% of the thyroid nodules in adults are malignant versus 20-26% in children. The characteristics of 9 other pediatric cases with a differentiated thyroid carcinoma presenting with a toxic nodule, which have been reported during the last 20 years, are summarized. A nodular size of more than 3.5 cm and female predominance was a common finding. CONCLUSIONS: The presence of hyperthyroidism in association with a hyperfunctioning thyroid nodule does not rule out thyroid cancer and warrants careful evaluation, even in the absence of cervical lymph node invasion.

12.
Fertil Steril ; 113(6): 1183-1195.e3, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32418646

RESUMO

OBJECTIVE: To characterize the tubular environment in testicular biopsy tissues from patients with Klinefelter syndrome (KS). DESIGN: Observational immunohistochemical study. SETTING: Academic research unit. PATIENT(S): Males with KS and controls at different developmental time points: fetal, prepubertal, peripubertal, and adult. INTERVENTION(S): Immunohistochemical analysis of testicular biopsies samples to characterize maturation of Sertoli cells and tubular wall components-peritubular myoid cells (PTMC) and extracellular matrix (ECM) proteins. MAIN OUTCOME MEASURE(S): Intensity of antimüllerian hormone staining; proportion of Sertoli cells expressing androgen receptor (AR); and expression of tubular wall markers as characterized by identifying abnormal staining patterns. RESULT(S): Decreased expression for alpha smooth muscle actin 2 (ACTA2) was observed in peripubertal and adult KS as well as in Sertoli cell only (SCO) patients. Altered expression patterns for all ECM proteins were observed in SCO and KS biopsy tissues compared with controls. Only for collagen I and IV were altered expression patterns observed between KS and SCO patients. In peripubertal samples, no statistically significant differences were observed in the maturation markers, but altered ECM patterns were already present in some samples. CONCLUSION(S): The role of loss of ACTA2 expression in PTMC in the disintegration of tubules in KS patients should be further investigated. Future research is necessary to identify the causes of testicular fibrosis in KS patients. If the mechanism behind this fibrotic process could be identified, this process might be altered toward increasing the chances of fertility in KS patients.


Assuntos
Síndrome de Klinefelter/metabolismo , Túbulos Seminíferos/química , Síndrome de Células de Sertoli/metabolismo , Nicho de Células-Tronco , Actinas/análise , Adolescente , Adulto , Hormônio Antimülleriano/análise , Biomarcadores/análise , Biópsia , Estudos de Casos e Controles , Criança , Pré-Escolar , Proteínas da Matriz Extracelular/análise , Fibrose , Humanos , Imuno-Histoquímica , Síndrome de Klinefelter/patologia , Masculino , Receptores Androgênicos/análise , Túbulos Seminíferos/patologia , Síndrome de Células de Sertoli/patologia , Células de Sertoli/química , Células de Sertoli/patologia , Adulto Jovem
13.
Hum Reprod Open ; 2020(1): hoz043, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32055712

RESUMO

STUDY QUESTION: Does In vitro maturation (IVM) of immature oocytes affect health, including growth at 2 years of age, in singletons born to mothers with polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: This study of 92 singletons born after IVM in mothers with PCOS showed no significant differences in anthropometry and health outcome parameters in comparison with a cohort of 74 peers born after intracytoplasmic sperm injection (ICSI) and conventional controlled ovarian stimulation (COS) in mothers with PCOS. WHAT IS KNOWN ALREADY: IVM has been used worldwide in women with PCOS. However, the paucity of available data related to children's health following IVM is an important impediment to a more widespread use of the technology. Although previous reports on the neonatal outcome after IVM are generally reassuring, these studies have flaws that hamper the interpretation of outcomes. Moreover, few studies have reported on health outcomes after IVM beyond infancy, and particularly growth data in children born after IVM of immature oocytes from mothers with PCOS are lacking. STUDY DESIGN SIZE DURATION: This single-center cohort study compared anthropometry and health outcomes in 92 singletons born after ICSI of in vitro matured oocytes with 74 singletons born after ICSI without IVM (COS). All participants were born to mothers who were diagnosed with PCOS phenotype A, B, C or D and reached the age of 2 years between November 2012 and June 2019. Singletons born after COS were randomly selected for follow-up until young adulthood. PARTICIPANTS/MATERIALS SETTING METHODS: Anthropometric parameters and health status data were prospectively collected at birth, 4 months and 2 years in cohorts of singletons followed since birth. Results were adjusted for neonatal (birthweight z-score, birth order), treatment (day of transfer, number of embryos transferred, mode of transfer) and parental (maternal smoking, age, body mass index (BMI), anti-Müllerian hormone level, PCOS phenotype, gestational diabetes, hypertensive disorder and paternal BMI) characteristics. MAIN RESULTS AND THE ROLE OF CHANCE: Overall, no differences were found for bodyweight, height and head circumference z-score between IVM and COS children at birth, at 4 months or at 2 years (all P > 0.05). In addition, z-scores of waist and mid-upper arm circumference at 2 years were comparable in IVM and COS children. Adjustment for covariates did not change the conclusion. Surgical intervention rate as well as the hospital admission rate were comparable between the IVM and COS group (all P > 0.05). The proportion of children born to mothers with metabolically unfavorable PCOS phenotypes (A and C) was comparable in the two groups (52.1% in IVM and 45.9% in COS). Mothers giving birth to a child conceived using IVM were younger than mothers in the COS group but their BMI was comparable. LIMITATIONS REASONS FOR CAUTION: Although our study describes the largest cohort to date of singletons born after IVM applied in mothers with well-defined PCOS phenotypes, the current sample size only allowed us to detect moderate differences in anthropometry. Also, follow-up of children born after IVM for indications other than PCOS, for example fertililty preservation after cancer diagnosis, is highly recommended. WIDER IMPLICATIONS OF THE FINDINGS: We did not observe adverse effects of IVM on growth parameters in offspring ~2 years of age compared to COS, but future studies should focus on cardiovascular and metabolic outcomes in these children and adolescents given their mother's PCOS condition. STUDY FUNDING/COMPETING INTERESTS: This study was supported by Methusalem grants and by grants from Wetenschappelijk Fonds Willy Gepts; all issued by the Vrije Universiteit Brussel (VUB). All co-authors, except M.B., M.D.V. and H.T. declared no conflict of interest. M.B. has received consultancy fees from MSD, Serono Symposia and Merck. M.D.V. has received fees for lectures from MSD, Ferring, Gedeon Richter and Cook Medical. H.T. has received consultancy fees from Gedeon Richter, Merck, Ferring, Abbott and ObsEva. The Universitair Ziekenhuis Brussel (UZ Brussel) and the Center for Medical Genetics have received several educational grants from IBSA, Ferring, MSD and Merck for establishing the database for follow-up research and organizing the data collection.

14.
J Pediatr Gastroenterol Nutr ; 63(5): e86-e91, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27768651

RESUMO

The prevalence of disease-related undernutrition in hospitalized children has not decreased significantly in the last decades in Europe. A recent large multicentric European study reported a percentage of underweight children ranging across countries from 4.0% to 9.3%. Nutritional screening has been put forward as a strategy to detect and prevent undernutrition in hospitalized children. It allows timely implementation of adequate nutritional support and prevents further nutritional deterioration of hospitalized children. In this article, a hands-on practical guideline for the implementation of a nutritional care program in hospitalized children is provided. The difference between nutritional status (anthropometry with or without additional technical investigations) at admission and nutritional risk (the risk of the need for a nutritional intervention or the risk for nutritional deterioration during hospital stay) is the focus of this article. Based on the quality control circle principle of Deming, a nutritional care algorithm, with detailed instructions specific for the pediatric population was developed and implementation in daily practice is proposed. Further research is required to prove the applicability and the merit of this algorithm. It can, however, serve as a basis to provide European or even wider guidelines.


Assuntos
Desnutrição/diagnóstico , Programas de Rastreamento/métodos , Algoritmos , Criança , Criança Hospitalizada , Pré-Escolar , Europa (Continente) , Hospitalização , Humanos , Desnutrição/epidemiologia , Avaliação Nutricional , Estado Nutricional , Apoio Nutricional , Prevalência
15.
Curr Opin Clin Nutr Metab Care ; 19(5): 336-340, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27327411

RESUMO

PURPOSE OF REVIEW: The ideal measures for screening and assessing undernutrition in children remain a point of discussion in literature. This review aims to provide an overview of recent advances in the nutritional screening and assessment methods in children. RECENT FINDINGS: This review focuses on two major topics that emerged in literature since 2015: the practical endorsement of the new definition for pediatric undernutrition, with a focus on anthropometric measurements and the search for a consensus on pediatric nutritional screening tools in different settings. SUMMARY: Few analytical tools exist for the assessment of the nutritional status in children. The subjective global nutritional assessment has been validated by anthropometric as well as clinical outcome parameters. Nutritional screening can help in selecting patients that benefit the most from a full nutritional assessment. Two new screening tools have been developed for use in a general (mixed) hospital population, and one for a population of children with cancer. The value of screening tools in different disease-specific and outpatient pediatric populations remains to be proven.

16.
J Cyst Fibros ; 15(4): 540-7, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26778614

RESUMO

BACKGROUND: Gastro-oesophageal reflux (GOR) is common in patients with cystic fibrosis (CF). The aim of this study was to investigate the relationship between gastric emptying (GE) and GOR in children with CF. METHODS: Multichannel intraluminal impedance-pH monitoring (MII-pH) to measure GOR and GE breath test (GEBT) to measure GE were performed in 28 children with symptoms suggestive for GOR disease (GORD) (group 1). GEBT was performed in another 28 children with/without GOR symptoms who agreed to undergo GEBT but not MII-pH (group 2). RESULTS: In group 1, we found increased acid GOR (AGOR) in 46.4% and delayed GE (DGE) in 21.4% but no relationship between increased AGOR and DGE. There was no DGE in group 2. We found DGE in 10.7% and rapid GE in 12.5% of the whole group. CONCLUSIONS: Almost half of the children with CF and symptoms suggestive for GORD have increased AGOR and almost a quarter has DGE. However, there was no relation between GOR and GE.


Assuntos
Fibrose Cística , Esvaziamento Gástrico , Refluxo Gastroesofágico , Concentração de Íons de Hidrogênio , Adolescente , Bélgica , Testes Respiratórios/métodos , Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/fisiopatologia , Monitoramento do pH Esofágico/métodos , Feminino , Determinação da Acidez Gástrica , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/etiologia , Refluxo Gastroesofágico/fisiopatologia , Humanos , Lactente , Masculino , Estudos Prospectivos , Estatística como Assunto
17.
Fertil Steril ; 105(2): 249-55, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26748226

RESUMO

In about one-half of adult Klinefelter syndrome (KS) patients, spermatozoa can be retrieved by means of testicular biopsy (TESE). Given the expected increase in the number of diagnosed KS patients owing to the use of noninvasive prenatal testing, the probable questions of young KS patients and their parents regarding future fertility, and the fact that widespread apoptosis of spermatogonia occurs at onset of puberty, an attempt to increase the retrieval rates at TESE above those found in adult KS men by undertaking preservation techniques peripubertally has been initiated. To date, however, only a limited number of KS adolescents have been examined, demonstrating no increases in the chances of finding sperm. Furthermore, spermatogonial stem cell and testicular tissue freezing techniques, as well as in vitro maturation strategies, require further validation. Given these controversies, banking testicular tissue from prepubertal KS boys should be performed only in a research framework.


Assuntos
Criopreservação , Preservação da Fertilidade/métodos , Fertilidade , Infertilidade Masculina/terapia , Síndrome de Klinefelter/complicações , Preservação do Sêmen/métodos , Recuperação Espermática , Espermatozoides/patologia , Testículo/patologia , Adolescente , Adulto , Fatores Etários , Biópsia , Criança , Preservação da Fertilidade/efeitos adversos , Humanos , Infertilidade Masculina/etiologia , Infertilidade Masculina/fisiopatologia , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Masculino , Valor Preditivo dos Testes , Puberdade , Fatores de Risco , Preservação do Sêmen/efeitos adversos , Espermatogênese , Adulto Jovem
18.
Eur J Pediatr ; 175(3): 399-404, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26494133

RESUMO

UNLABELLED: To evaluate the attitude of parents of Klinefelter syndrome (KS) boys and pediatricians with regard to early detection of KS and fertility preservation, a specific questionnaire investigating the acceptability towards neonatal screening for KS and the use of testicular biopsy and sperm collection was designed. The responses of 49 pediatricians and 18 parents were evaluated. All parents and 67% of the pediatricians consider neonatal screening for KS to be a good option. A total of 83.3% of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2% are in favor of banking spermatozoa after masturbation while 77.7% agree on spermatozoa banking after penile vibro-stimulation or rectal electro-stimulation under general anesthesia. Sixty-nine percent of pediatricians would counsel parents and KS adolescents in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2% agrees on testicular biopsy to detect spermatozoa or eventually spermatogonial stem cells (SSCs) for cryopreservation in minor KS patients. CONCLUSION: The majority of KS parents and pediatricians, completing a specific designed questionnaire on fertility preservation modalities, were in favor of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.


Assuntos
Preservação da Fertilidade/psicologia , Síndrome de Klinefelter/psicologia , Triagem Neonatal/psicologia , Pais/psicologia , Pediatras/psicologia , Adulto , Idoso , Atitude , Feminino , Humanos , Recém-Nascido , Síndrome de Klinefelter/prevenção & controle , Síndrome de Klinefelter/terapia , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
19.
Clin Endocrinol (Oxf) ; 84(3): 353-60, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26501737

RESUMO

OBJECTIVE: In Europe, growth hormone (GH) treatment for children born small for gestational age (SGA) can only be initiated after 4 years of age. However, younger age at treatment initiation is a predictor of favourable response. To assess the effect of GH treatment on early growth and cognitive functioning in very young (<30 months), short-stature children born SGA. DESIGN: A 2-year, randomized controlled, multicentre study (NCT00627523; EGN study), in which patients received either GH treatment or no treatment for 24 months. PATIENTS: Children aged 19-29 months diagnosed as SGA at birth, and for whom sufficient early growth data were available, were eligible. Patients were randomized (1:1) to GH treatment (Genotropin®, Pfizer Inc.) at a dose of 0·035 mg/kg/day by subcutaneous injection, or no treatment. MEASUREMENTS: The primary objective was to assess the change from baseline in height standard deviation score (SDS) after 24 months of GH treatment. RESULTS: Change from baseline in height SDS was significantly greater in the GH treatment vs control group at both month 12 (1·03 vs 0·14) and month 24 (1·63 vs 0·43; both P < 0·001). Growth velocity SDS was significantly higher in the GH treatment vs control group at 12 months (P < 0·001), but not at 24 months. There was no significant difference in mental or psychomotor development indices between the two groups. CONCLUSIONS: GH treatment for 24 months in very young short-stature children born SGA resulted in a significant increase in height SDS compared with no treatment.


Assuntos
Estatura/efeitos dos fármacos , Desenvolvimento Infantil/efeitos dos fármacos , Hormônio do Crescimento Humano/uso terapêutico , Recém-Nascido Pequeno para a Idade Gestacional , Desempenho Psicomotor/efeitos dos fármacos , Tonsila Faríngea/patologia , Pré-Escolar , Feminino , Hormônio do Crescimento Humano/administração & dosagem , Hormônio do Crescimento Humano/efeitos adversos , Humanos , Hipertrofia/induzido quimicamente , Lactente , Recém-Nascido , Injeções Subcutâneas , Masculino , Fatores de Tempo , Resultado do Tratamento
20.
Nutr Res ; 35(11): 975-81, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26428622

RESUMO

The percentage of newborns with a neonatal whole blood thyroid-stimulating hormone (TSH) greater than 5 mIU/L has been used as an indicator of iodine deficiency at the population level. However, TSH levels in newborns may be influenced by many factors other than iodine status. The objective of this study was to identify neonatal, maternal, and pregnancy-related determinants of neonatal TSH levels in a retrospective cohort study. The study sample included 313 Belgian mothers and their 4- to 5-year-old children. The children had a neonatal TSH concentration between 0 and 15 mIU/L at neonatal screening, and blood samples were collected 3 to 5 days after birth. Children with suspected congenital hypothyroidism (neonatal TSH level >15 mIU/L), prematurely born (i.e., <37 weeks), or with a low birth weight (i.e., <2500 g) were excluded. Information about maternal and birth-related determinants was collected from the neonatal screening center via a self-administered questionnaire filled in by the mother together with the child's health booklet. Higher TSH levels were found in spring and winter compared to summer and autumn (P = .011). Higher TSH levels were associated with lifetime smoking behavior (up to child birth) in the mother (P = .005), lower weight gain during pregnancy (P = .014), and longer pregnancies (P = .003). This study showed that several neonatal, maternal, and pregnancy-related determinants are influencing neonatal TSH level.


Assuntos
Mães , Triagem Neonatal , Tireotropina/sangue , Adulto , Bélgica , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos
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