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Introduction: Perinatal asphyxia is one of the three most important causes of neonatal mortality and morbidity. Therapeutic hypothermia represents the standard treatment for infants with moderate-severe perinatal asphyxia, resulting in reduction in the mortality and major neurodevelopmental disability. So far, data in the literature focusing on the endocrine aspects of both asphyxia and hypothermia treatment at birth are scanty, and many aspects are still debated. Aim of this narrative review is to summarize the current knowledge regarding the short- and long-term effects of perinatal asphyxia and of hypothermia treatment on the endocrine system, thus providing suggestions for improving the management of asphyxiated children. Results: Involvement of the endocrine system (especially glucose and electrolyte disturbances, adrenal hemorrhage, non-thyroidal illness syndrome) can occur in a variable percentage of subjects with perinatal asphyxia, potentially affecting mortality as well as neurological outcome. Hypothermia may also affect endocrine homeostasis, leading to a decreased incidence of hypocalcemia and an increased risk of dilutional hyponatremia and hypercalcemia. Conclusions: Metabolic abnormalities in the context of perinatal asphyxia are important modifiable factors that may be associated with a worse outcome. Therefore, clinicians should be aware of the possible occurrence of endocrine complication, in order to establish appropriate screening protocols and allow timely treatment.
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Asfixia Neonatal , Hipotermia , Recém-Nascido , Lactente , Gravidez , Feminino , Criança , Humanos , Asfixia/complicações , Hipotermia/complicações , Parto , Asfixia Neonatal/complicações , Asfixia Neonatal/terapia , Asfixia Neonatal/diagnóstico , Sistema EndócrinoRESUMO
Introduction: The aim of our single-center case-control study is to evaluate whether minipuberty occurs in patients with hypoxic ischemic encephalopathy (HIE) who underwent therapeutic hypothermia (TH). We intend to conduct this evaluation by confronting the values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) and the values of testosterone in males and estradiol in females between newborns with HIE and in subsequent TH and healthy controls. Methods: We enrolled 40 patients (age: 56-179 days; 23 males), of whom 20 met the inclusion criteria for the case group and who underwent TH. A blood sample was taken from each patient at approximately 10 weeks of age to evaluate FSH and LH from the serum samples of all patients and to evaluate 17-beta estradiol (E2) and testosterone levels, respectively, from the serum samples of female and male patients. Results: It was found that minipuberty occurred in the case group patients, with no significant differences reported from the control group and with hormonal serum levels comparable to healthy infants of the control group (FSH 4.14â mUI/ml ± 5.81 SD vs. 3.45â mUI/ml ± 3.48 SD; LH 1.41â mUI/ml ±1.29 SD vs. 2.04â mUI/ml ±1.76 SD; testosterone in males 0.79â ng/ml ± 0.43 SD vs. 0.56â ng/ml ± 0.43 SD; 17-beta estradiol in females 28.90â pg/ml ± 16.71 SD vs. 23.66â pg/ml ± 21.29 SD). Discussion: The results of the present study may pave the way for further research and the evaluation of more possible advantages of TH.
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Objective: This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology during the first wave of coronavirus disease 2019 pandemic (March-September 2020), compared to subjects observed in the same period of the previous year. Design: The study population (490 children) was divided according to the year of observation and final diagnosis: transient thelarche, non-progressive precocious puberty, central precocious puberty (CPP), or early puberty. Results: Between March and September 2020, 338 subjects were referred for suspected precocious puberty, compared to 152 subjects in the same period of 2019 (+122%). The increase was observed in girls (328 subjects in 2020 vs 140 in 2019, P < 0.05), especially during the second half of the period considered (92 girls from March to May vs 236 girls from June to September); while no difference was observed in boys (10 subjects in 2020 vs 12 in 2019). The percentage of girls with confirmed CPP was higher in 2020, compared to 2019 (135/328 girls (41%) vs 37/140 (26%), P < 0.01). Anthropometric and hormonal parameters in 2019 and 2020 CPP girls were not different; 2020 CPP girls showed more prolonged use of electronic devices and a more sedentary lifestyle both before and during the pandemic, compared to the rest of the 2020 population. Conclusions: The present findings corroborate the recently reported association between the complex lifestyle changes related to the lockdown and a higher incidence of CPP in Italian girls.
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Since the coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread worldwide, there is still limited knowledge about this condition and its natural history. Children have been relatively spared during COVID-19 pandemic but a novel syndrome known as multisystem inflammatory syndrome (MIS-C) has emerged, following a SARS-CoV-2 infection in children and adolescents. This syndrome can lead to shock and multiple organ failure requiring intensive care. Although COVID-19 clinical research focuses on respiratory symptoms, extrapulmonary involvement such as gastrointestinal (GI) and hepatic manifestations should also be considered. In fact, GI and hepatic involvement play an important role among the most common presenting symptoms of both pediatric and adult COVID-19 and MIS-C. This involvement can not only be one of the most common presenting clinical features but also one of the sequelae of these syndromes. Abdominal ultrasonography monitoring could be very useful to identify a potential involvement of the GI tract and liver. Moreover, long-term follow-up is needed and would be essential to define the long-term outcomes of these patients.
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COVID-19 , Pandemias , Adolescente , COVID-19/complicações , Criança , Trato Gastrointestinal , Humanos , SARS-CoV-2 , Síndrome de Resposta Inflamatória SistêmicaRESUMO
The emergence of Multisystem Inflammatory Syndrome (MIS-C) following SARS-CoV-2 infection in children and adolescents provided a new diagnostic and management challenge as there is limited knowledge about this condition and its natural history. In existing literature on MIS-C, there are currently no data about long-term outcomes. We report the case of a 14-year-old boy, with no significant past medical history, who presented a condition of multiorgan dysfunction due to MIS-C, after a SARS CoV-2 infection, and subsequent clinical-laboratory signs of hepatic steatosis at short-term follow-up. The case suggests how hepatic steatosis may be a possible sequela following SARS-CoV-2 infection, MIS-C and its medical treatment. Therefore, a close and long-term follow-up is needed to establish the pathophysiology and the evolution of this condition in patients following MIS-C.
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COVID-19 , Fígado Gorduroso , Adolescente , Criança , Fígado Gorduroso/etiologia , Humanos , Masculino , SARS-CoV-2 , Síndrome de Resposta Inflamatória SistêmicaRESUMO
OBJECTIVE: To evaluate the prevalence and natural course of autoimmune and non-autoimmune subclinical hypothyroidism (SH) in Down syndrome (DS) children and adolescents. DESIGN: Prospective multicenter study. METHODS: For the study, 101 DS patients with SH (TSH 5-10 mIU/L; FT4 12-22 pmol/L), aged 2-17 years at SH diagnosis were enrolled. Annual monitoring of TSH, FT4, BMI, height, and L-thyroxine dose was recorded for 5 years. Thyroid autoimmunity was tested at diagnosis and at the end of follow-up. RESULTS: Thirty-seven out of 101 patients displayed autoantibody positivity (group A); the remaining 64 were classified as non-autoimmune SH (group B). Group A was characterized by higher median age at SH diagnosis and by more frequent family history of thyroid disease (6.6 vs 4.7 years, P = 0.001; 32.4% vs 7.8%, P = 0.001 respectively), whereas congenital heart defects were more common in group B (65.6% vs 43.2%, P = 0.028). Gender, median BMI (SDS), height (SDS), FT4, and TSH were similar in both groups. At the end of follow-up: 35.1% of group A patients developed overt hypothyroidism (OH) vs 17.2% of group B (P = 0.041); 31.25% of group B vs 10.8% of group A became biochemically euthyroid (P = 0.02); and 37.8% of group A vs 51.5% of group B still had SH condition (P = 0.183). Logistic regression suggested autoimmunity (OR = 3.2) and baseline TSH values (OR = 1.13) as predictive factors of the evolution from SH to OH. CONCLUSIONS: In DS children, non-autoimmune SH showed higher prevalence and earlier onset. The risk of thyroid function deterioration over time seems to be influenced by thyroid autoimmunity and higher baseline TSH values.
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Síndrome de Down/epidemiologia , Doença de Hashimoto/epidemiologia , Tireoidite Autoimune/epidemiologia , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Síndrome de Down/complicações , Feminino , Doença de Hashimoto/complicações , Humanos , Masculino , Estudos Prospectivos , Tireoidite Autoimune/complicaçõesRESUMO
RATIONALE: Splenic cysts (SCs) are rare findings in children, particularly the youngest. Here, we discuss a case that is useful for the differential diagnosis and treatment of SCs. PATIENT CONCERNS: A 9-year-old Albanian boy was admitted for severe abdominal pain localized mainly in the left hypochondrium for approximately 24âhours. His medical history was without significant clinical problems. DIAGNOSIS: Splenomegaly was diagnosed during the first clinical examination, and laboratory tests showed an increase in CA 125 and CA19-9. Abdominal ultrasonography showed splenomegaly with a large hypoechoic oval formation with well-defined margins and the presence of internal fine suspension spots; abdominal magnetic resonance imaging revealed a well-defined SC. The cystic lesion caused major effects on the neighboring organs, shifting them from their normal sites. INTERVENTIONS: Considering the mass's volume, an open splenectomy was performed. Upon histopathological examination, the lesion was characterized by a stratified squamous keratinized thick lining and brownish liquid contents consisting of lymphocytes, erythrocytes, and hemosiderin-rich macrophages. These features informed the diagnosis of a giant epidermoid SC. OUTCOMES: No complications occurred in the post-operative period, and blood exams revealed the quick normalization of CA 19.9 and CA 125 levels. The boy was discharged on the eighth post-operative day. No complaints were documented during the regular follow-up. LESSONS: This case shows that modern imaging techniques are useful for the differential diagnosis between epithelial mass and SCs of different origins. Open splenectomy has been the treatment of choice for years, but future studies should clarify whether more conservative methods are associated with positive long-term outcomes and if they can also be used for large SCs.
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Cisto Epidérmico/diagnóstico , Esplenopatias/diagnóstico , Criança , Diagnóstico Diferencial , Cisto Epidérmico/patologia , Cisto Epidérmico/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Esplenectomia , Esplenopatias/patologia , Esplenopatias/cirurgia , Esplenomegalia/diagnóstico por imagem , UltrassonografiaRESUMO
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder.
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Antagonistas de Androgênios/uso terapêutico , Síndrome de Resistência a Andrógenos/tratamento farmacológico , Síndrome de Resistência a Andrógenos/genética , Androgênios/uso terapêutico , Terapia de Reposição Hormonal/métodos , Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico , Neoplasias Testiculares/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Síndrome de Resistência a Andrógenos/fisiopatologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Embrionárias de Células Germinativas/fisiopatologia , Prognóstico , Neoplasias Testiculares/genética , Neoplasias Testiculares/fisiopatologia , Adulto JovemRESUMO
Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). CPHD is a disorder characterized by impaired production of two or more anterior and/or posterior pituitary hormones. Many genes implicated in CPHD remain to be identified. Better genetic characterization will provide more information about the disorder and result in important genetic counselling because a number of patients with hypopituitarism represent familial cases. To date, PROP1 mutations represent the most common known genetic cause of CPHD both in sporadic and familial cases. We report a novel mutation in the PROP1 gene in an infant with CPHD and an enlarged pituitary gland. Close long-term follow-up will reveal other possible hormonal defects and pituitary involution.
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Proteínas de Homeodomínio/genética , Hipopituitarismo/diagnóstico , Hipófise/diagnóstico por imagem , Pré-Escolar , Feminino , Deleção de Genes , Hormônio do Crescimento/uso terapêutico , Humanos , Hipopituitarismo/tratamento farmacológico , Hipopituitarismo/genética , Imageamento por Ressonância Magnética , Tiroxina/uso terapêuticoRESUMO
BACKGROUND: Human growth is a complex mechanism that depends on genetic, environmental, nutritional and hormonal factors. The main hormone involved in growth at each stage of development is growth hormone (GH) and its mediator, insulin-like growth factor 1 (IGF-1). In contrast, vitamin D is involved in the processes of bone growth and mineralization through the regulation of calcium and phosphorus metabolism. Nevertheless, no scientific study has yet elucidated how they interact with one another, especially as a dysfunction in which one influences the other, even if numerous biochemical and clinical studies confirm the presence of a close relationship. MAIN BODY: We reviewed and analyzed the clinical studies that have considered the relationship between vitamin D and the GH/IGF-1 axis in pediatric populations. We found two main areas of interest: the vitamin D deficiency status in patients affected by GH deficit (GHD) and the relationship between serum vitamin D metabolites and IGF-1. Although limited by some bias, from the analysis of the studies presented in the scientific literature, it is possible to hypothesize a greater frequency of hypovitaminosis D in the subjects affected by GHD, a reduced possibility of its correction with only substitution treatment with recombinant growth hormone (rGH) and an improvement of IGF-1 levels after supplementation treatment with vitamin D. CONCLUSIONS: These results could be followed by preventive interventions aimed at reducing the vitamin D deficit in pediatric age. In addition, further research is needed to fully understand how vitamin D and growth are intertwined.
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Hormônio do Crescimento/sangue , Conhecimento , Vitamina D/sangue , Criança , Desenvolvimento Infantil , Humanos , Metaboloma , Transdução de SinaisRESUMO
To investigate growth hormone (GH) secretion at the transition age, retesting of all subjects who have undergone GH replacement therapy is recommended when linear growth and pubertal development are complete to distinguish between transitional and persistent GH deficiency (GHD). Early retesting of children with idiopathic and isolated GHD (i.e., before the achievement of final height and/or the adult pubertal stage) can avoid possible over-treatment. Here, we report data from our population with idiopathic and isolated GHD to encourage changes in the management and timing of retesting. We recruited 31 patients (19 males) with idiopathic GHD who received recombinant GH (rGH) for at least 2 years. All of the patients were retested at the transition age at least 3 months after rGH discontinuation. Permanent GHD was defined as a GH peak of <19 ng/mL after administration of growth hormoneâ»releasing hormone (GHRH) + arginine as a provocative test. Permanent GHD was confirmed in only five of 31 patients (16.13%). None of these patients presented low serum insulin-like growth factor (IGF)-1 levels (<-2 standard deviation score (SDS)). Only one male patient with an IGF-1 serum level lower than -2 SDS showed a normal GH stimulation response, with a GH peak of 44.99 ng/mL. Few patients with idiopathic and isolated GHD demonstrated persistence of the deficit when retested at the transition age, suggesting that the timing of retesting should be anticipated to avoid overtreatment.
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Monitoramento de Medicamentos/métodos , Nanismo Hipofisário/tratamento farmacológico , Terapia de Reposição Hormonal/métodos , Hormônio do Crescimento Humano/deficiência , Adolescente , Arginina/administração & dosagem , Criança , Pré-Escolar , Monitoramento de Medicamentos/normas , Feminino , Hormônio do Crescimento/uso terapêutico , Hormônio Liberador de Hormônio do Crescimento/administração & dosagem , Hormônio do Crescimento Humano/sangue , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Uso Excessivo dos Serviços de Saúde/prevenção & controleRESUMO
BACKGROUND: Ophthalmopathy is a rare extra-thyroid manifestation of Graves' disease, in paediatrics. Intravenous corticosteroids are the main treatment of moderate-to-severe Graves' orbitopathy. In this paper, we describe a moderate-to-severe active Graves' ophthalmopathy in a child and the response to oral therapy with prednisone. CASE PRESENTATION: A nine-year-old male child suffering for a few months, from palpitations, tremors, and paresthesia was hospitalized in our Pediatric Clinic. At admission, the thyroid function laboratory tests showed hyperthyroidism with elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels and suppressed thyroid-stimulating hormone (TSH) levels. These findings, combined with the clinical conditions-an ophthalmologic evaluation (that showed the presence of exophthalmos without lagophthalmos and visual acuity deficiency), thyroid ultrasound, and TSH receptor antibody positivity-led to a diagnosis of Graves' disease. Therefore, methimazole was administered at a dose of 0.4 mg/kg/day. After 4 months, thyroid function was clearly improved, with normal FT3 and FT4 values and increasing TSH values, without adverse effects. Nevertheless, an eye examination showed ophthalmopathy with signs of activity, an increase in the exophthalmos of the right eye with palpebral retraction, soft tissue involvement (succulent and oedematous eyelids, caruncle and conjunctival hyperaemia and oedema) and keratopathy, resulting from exposure. We began steroid therapy with oral administration of prednisone (1 mg/kg/day) for four weeks, followed by gradual tapering. After one week of therapy with prednisone, an eye assessment showed reduced retraction of the upper eyelid of the right eye, improvement of right eye exophthalmometry and reduction of conjunctival hyperaemia. After four weeks of therapy with prednisone, an eye assessment showed reduction of the right palpebral retraction without conjunctival hyperaemia and no other signs of inflammation of the anterior segment; after twelve weeks, an eye assessment showed a notable decrease in the right palpebral retraction and the absence of keratitis, despite persisting moderate conjunctival hyperaemia. No adverse event associated with steroid use was observed during the treatment period and no problem in compliance was reported. CONCLUSION: Prednisone seems a better choice than intravenous corticosteroids, for treating moderate-to-severe and active Graves' ophthalmopathy, keeping in mind the importance of quality of life in pediatric patients.
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Glucocorticoides/administração & dosagem , Oftalmopatia de Graves/tratamento farmacológico , Prednisona/administração & dosagem , Administração Intravenosa , Administração Oral , Criança , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/patologia , Humanos , Masculino , Qualidade de Vida , Testes de Função Tireóidea , Resultado do TratamentoRESUMO
Obesity and asthma are complex disorders related to gene-environment interactions and various lifestyle factors. At present, they represent two of the most significant paediatric health problems worldwide, particularly in industrialized nations. The aim of this narrative review is to evaluate possible therapeutic strategies to manage asthma in children with overweight/obesity. PubMed was used to search for all of the studies published from January 2008 to June 2018 using the following key words: "asthma" and "overweight" or "obesity" or "obese" and "children" or "paediatric". The literature review showed that growing evidence underlines the existence of an "obese asthma" phenotype characterised by difficult-to-control asthma with additional symptoms, worse control, more frequent and severe exacerbations, reduced response to inhaled corticosteroids, and lower quality of life than other phenotypes. Currently, therapeutic strategies centred on prevention are suggested and the development of resources to assist families with weight loss strategies seems useful for effective weight control and optimal asthma management. Studies on vitamin D supplementation and further knowledge are needed to better define the best therapeutic options to manage asthma in children with overweight/obesity and to reduce the onset and severity of this chronic respiratory disease through the design of a multifactorial intervention.
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Asma/tratamento farmacológico , Obesidade Infantil/terapia , Criança , HumanosRESUMO
Hashimoto's thyroiditis (HT) is the most common cause of thyroid disease in children and adolescents. Along with significant modifications of thyroid function, HT in pediatric age can be accompanied by relevant thyroid structural alterations. Over time, benign thyroid nodules, carcinoma and, rarely, primary non-Hodgkin lymphoma can develop. However, the relationships between HT and neoplasms are poorly defined. The main aim of this paper is to discuss what is presently known regarding the coexistence of HT and thyroid tumors. Moreover, we attempt to define the pathogenesis of cancer development in children with HT. Literature analysis showed that despite its rarity and relatively promising prognosis, thyroid cancer is associated with HT. Although not all reasons for the coexistence of these diseases are clearly defined, children with HT should be considered at higher risk for thyroid cancer development. Strict correlations between high levels of serum TSH and anti-thyroid antibodies with cancer must be remembered. The same is true for the presence of nodules, especially if multiple nodules are present and ultrasonography and thyroid fine needle aspiration cytology should be promptly used in uncertain cases.
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Minipuberty consists of activation of the hypothalamic-pituitary-gonadal (HPG) axis during the neonatal period, resulting in high gonadotropin and sex steroid levels, and occurs mainly in the first 3-6 months of life in both sexes. The rise in the levels of these hormones allows for the maturation of the sexual organs. In boys, the peak testosterone level is associated with penile and testicular growth and the proliferation of gonadic cells. In girls, the oestradiol levels stimulate breast tissue, but exhibit considerable fluctuations that probably reflect the cycles of maturation and atrophy of the ovarian follicles. Minipuberty allows for the development of the genital organs and creates the basis for future fertility, but further studies are necessary to understand its exact role, especially in girls. Nevertheless, no scientific study has yet elucidated how the HPG axis turns itself off and remains dormant until puberty. Additional future studies may identify clinical implications of minipuberty in selected cohorts of patients, such as premature and small for gestational age infants. Finally, minipuberty provides a fundamental 6-month window of the possibility of making early diagnoses in patients with suspected sexual reproductive disorders to enable the prompt initiation of treatment rather than delaying treatment until pubertal failure.
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BACKGROUND: Cryptorchidism, the most common male genital abnormality observed in paediatrics, might often be associated with long-term functional consequences and can even reoccur after a successful orchidopexy. Serum markers that identify cryptorchid boys with gonadal dysfunction early should be useful in a decision-making process. Inhibin B, produced during all of childhood but altered in cryptorchid subjects, appears strictly related to Sertoli cells, and its levels directly reflect the status of the testis germinative epithelium. Unfortunately, its precise roles in bilateral and unilateral cryptorchidism are still debated and being unravelled. Herein, we report the most current knowledge about inhibin B in both healthy boys and those with cryptorchidism to discuss and clarify its potential clinical applications. DISCUSSION: Inhibin B represents a simple and repeatable serum marker and it seems to well asses the presence and function of the testicular tissue. Testicular tissue in prepubertal age is largely made up of Sertoli cells; inhibin B, coming from working Sertoli cells, allows to indirectly evaluate their function. Besides, inhibin B is produced throughout childhood, even before puberty, in contrast with central hormones, and it is not influenced by androgens during puberty, in contrast with other testicular hormones. Although further studies are needed, low levels of inhibin B have been related with low testicular score and/or with consistent alterations of testicular parameters at histological examination. This means that inhibin B could be an indirect marker of testicular functions that could even replace testicular biopsies, but current data are inconsistent to confirm this potential role of inhibin B in cryptorchidism. CONCLUSION: Inhibin B represents an effective candidate for early identification of testicular dysfunction after orchidopexy for cryptorchidism. Unfortunately, current data cannot exactly clarify the real role of inhibin B as a predictor of future testicular function in cryptorchidism and future long-term follow-up studies, with repeated inhibin B checks both in cryptorchid and in formerly cryptorchid children and adolescents, will permit to assess if previous normal levels of inhibin B would match with future normal pubertal development and fertility potential.
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Criptorquidismo/sangue , Inibinas/sangue , Maturidade Sexual/fisiologia , Biomarcadores/sangue , Criança , Criptorquidismo/fisiopatologia , Humanos , MasculinoRESUMO
Heterozygous mutations in the SHOX gene or in the upstream and downstream enhancer elements are associated with 2-22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri-Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80-90% of SHOX pathogenic variants are deletions or duplications, and the remaining 10-20% are point mutations that primarily give rise to missense variants. The clinical interpretation of novel variants, particularly missense variants, can be challenging and can remain of uncertain significance. Here, we describe a novel missense variant (c.1044 G>T, p.Arg118Met) in a Moroccan boy with a disproportionately short stature and without any radiological traits or bone deformities and in his mother, who had a disproportionately short stature and a Madelung deformity. This variant has not been reported to date in the updated SHOX allelic variant or Human Gene Mutation Databases nor is it listed as a polymorphism in the ExAC browser, dbSNP, or 1000G. This mutation was predicted to be deleterious by three different bioinformatics tools since it modifies an amino acid in a highly conserved DNA-binding domain of the SHOX protein. Based on this evidence, the patient was treated with recombinant human growth hormone.
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Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT) is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg) without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage) and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at presentation leading to delayed diagnosis and treatment. In this girl, a never-described association of Van Wyk-Grumbach syndrome and acute rhabdomyolysis in a young girl with previously unrecognized HT is described. The importance of recognizing the signs and symptoms of rare complications of HT in order to begin appropriate therapy is stressed.
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Doença de Hashimoto/complicações , Puberdade Precoce/etiologia , Rabdomiólise/etiologia , Criança , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/tratamento farmacológico , Humanos , Puberdade Precoce/tratamento farmacológico , Rabdomiólise/tratamento farmacológico , Síndrome , Testes de Função Tireóidea , Tiroxina/uso terapêutico , UltrassonografiaRESUMO
Palm oil is widely used in the food industry for its chemical/physical properties, low cost and wide availability. Its widespread use has provoked an intense debate about whether it is a potential danger to human health. In a careful review of the scientific literature, we focused on nutritional characteristics and health effects of the use of palm oil with regards to children, seeking to determine whether there is evidence that justifies fears about the health effects of palm oil. Our review showed that palm oil represents a significant source of saturated fatty acids, to which scientific evidence attributes negative health effects when used in excess, especially with regards to cardiovascular diseases. However, to date, there is no evidence about the harmful effects of palm oil on the health of children. Nevertheless, palm oil has possible ill health effects linked to its composition of fatty acids: its consumption is not correlated to risk factors for cardiovascular diseases in young people with a normal weight and cholesterol level; the elderly and patients with dyslipidaemia or previous cardiovascular events or hypertension are at a greater risk. Therefore, the matter is not palm oil itself but the fatty-acid-rich food group to which it belongs. The most important thing is to consume no more than 10% of saturated fatty acids, regardless of their origin and regardless of one's age. Correct information based on a careful analysis of the scientific evidence, rather than a focus on a singular presumed culprit substance, should encourage better lifestyles.
Assuntos
Gorduras na Dieta/efeitos adversos , Óleo de Palmeira/efeitos adversos , Fatores Etários , Doenças Cardiovasculares/etiologia , Criança , Humanos , Fatores de RiscoRESUMO
Background: Hashimoto thyroiditis (HT) is the most frequent cause of acquired hypothyroidism in paediatrics. HT is usually diagnosed in older children and adolescents, mainly in females and is rare in infants and toddlers with cardiac involvement, including pericardial effusion, that can be found in 10% to 30% of adult HT cases. In this paper, a child with HT and pericardial effusion as the most important sign of HT is described. Case presentation: A four-year-old male child suffering for a few months from recurrent abdominal pain sometimes associated with vomiting underwent an abdominal ultrasound scan outside the hospital. This led to the identification of a significant pericardial effusion. At admission, his family history revealed that both his mother and maternal grandmother suffered from HT and that both were treated with l-thyroxine (LT4). The clinical examination did not reveal any pathological signs other than a palpable thyroid. His weight was 21 kg (78th percentile), his height was 101.8 cm (12th percentile) and his body max index (BMI) was 20.26 (96th percentile). On a chest radiograph, his heart had a globular appearance and the lung fields were normal. An echocardiography confirmed and determined the effusion amount (max, 23 mm; 600 mL) with light impairment of the heart kinetics. The ECG showed sinus bradycardia with a normal ST tract. Based on the blood test results, an infectious cause of the pericardial fluid excess was considered unlikely. Thyroid function testing revealed very high thyrotropin (TSH, 487 µIU/mL; normal range, 0.340-5.600 µIU/mL) and low serum-free thyroxine (fT4, 0.04 ng/dL; normal range, 0.54-1.24 ng/dL) levels. High thyroid peroxidase antibody titres in the blood were evidenced (>1500 UI/L; normal values, 0.0-9.0 UI/L). The thyroid ultrasound was consistent with thyroiditis. HT was diagnosed, and LT4 replacement therapy with levothyroxine sodium 1.78 µg/kg/die was initiated, with a gradual increase of the administered dose. The treatment was successful because a complete regression of the effusion after one month was evidenced, with a substantial modification towards normality of the thyroid function tests. One year later, the substitutive therapy led to complete normalization of the thyroid function indexes. A slight reduction of weight (BMI, 17.60 for age) and an increase of the velocity of height growth were evidenced. Conclusions: When fluid is identified in the pericardial space and pericarditis of unknown origin is diagnosed, the thyroid function should be immediately evaluated to prescribe substitutive hormonal therapy if necessary and thereby avoid overt hypothyroidism development and the risk of cardiac tamponade.