RESUMO
AIMS: Study aims: (1) developing and validating a novel questionnaire for measuring fear of hyperglycaemia among parents of children with type 1 diabetes (T1D) - the Hyperglycaemia Fear Survey - Parent version (FoHyper-P); (2) investigating correlations between parental fear of hyperglycaemia and objective measures of glycaemic control. METHODS: A multi-centre, multinational study of 152 parents of children with T1D was conducted in three large diabetes clinics from Israel, Poland, and Greece. Inclusion criteria were parents of children aged 6-16 years, at least 6 months from diagnosis, at least 3 months of CGM use and parental involvement in care. Parents filled the FoHyper-P and the Hypoglycaemia Fear Survey - Parent Version (HFS-P). Patient data were obtained via electronic medical records and informative questionnaires. Bonferroni correction was performed to counteract multiple comparisons. RESULTS: Significant strong-moderate correlations were found between FoHyper-P and HFS-P including total questionnaires scoring (r = 0.747, pBonf < 0.001), worries subscales (r = 0.735, pBonf <0.001), and behaviour subscales (r = 0.532, pBonf <0.001). Using linear regression models, we found a positive association between the worry subscale and HbA1C. Weak correlations (p < 0.05, not significant after Bonferroni correction) were found between time in range, time above range and parental fear of hyperglycaemia as well as between worry subscales and a higher HbA1C in the past year, percent of hyperglycaemia and lower TIR. CONCLUSIONS: The FoHyper-P is a novel, validated tool for assessing parental fear of hyperglycaemia. Integrating it into clinical practice addresses an underestimated aspect of parental diabetes management, enabling better care for children with T1D.
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Diabetes Mellitus Tipo 1 , Hiperglicemia , Hipoglicemia , Criança , Humanos , Hiperglicemia/prevenção & controle , Hemoglobinas Glicadas , Medo , Hipoglicemia/prevenção & controle , PaisRESUMO
Puberty is a complex process leading to physical, sexual, and psychosocial maturation. The changes in morphology and organ function during puberty also affect blood pressure (BP) regulation, and as a consequence (BP) values change noticeably, reaching values often higher than after reaching full maturity. In children entering puberty, BP, especially systolic, increases and then reaches adult values by the end of puberty. The mechanisms responsible for this process are complex and not fully understood. Sex hormones, growth hormone, insulin-like growth factor-1, and insulin, whose production increases during puberty, significantly regulate BP through complex and overlapping mechanisms. During puberty, the incidence of arterial hypertension also increases, especially in children with excess body weight. The present paper presents the current state of knowledge regarding the influence of processes occurring during puberty on blood pressure.
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Hipertensão , Criança , Adulto , Humanos , Pressão Sanguínea/fisiologia , Índice de Massa Corporal , Puberdade/fisiologia , Hormônios Esteroides GonadaisRESUMO
To present the results of testicular ultrasonography supported by clinical and hormonal aspects in paediatric patients with Klinefelter syndrome (KS). Prospective analysis of medical files of 20 patients diagnosed with KS between 2016 and 2022. Assessed data included analysis of causes of referral, ultrasound, and clinical characterisation with hormonal evaluation of serum FSH, LH, testosterone, inhibin B, and anti-Müllerian hormone. Non-mosaic Klinefelter syndrome (47, XXY) was diagnosed in 65% of cases (13/20) by the geneticist (including 7 cases prenatally), in 25% (5/20) by the endocrinologist and in 10% (2/20) by the hematologist. Ultrasound assessment revealed bilateral testicular microlithiasis (TM) in all patients. The youngest KS patient with TM was 3 months old. TM patterns have not changed during follow-ups of up to 6 years in any of the patients. In all KS patients markedly reduced echogenicity and in pubertal KS patients, also irregular echostructure of the testes was observed. The hormonal patterns observed in the study group were typical for those already described in KS. Sertoli and Leydig cell function was intact in prepubertal patients and deteriorated after the start of puberty. CONCLUSION: Although the degenerative process in the testicular tissue starts very early in the testes in KS and is reflected in morphological changes seen in ultrasonography, Sertoli and Leydig cell hormonal function is normal in prepubertal KS patients. WHAT IS KNOWN: ⢠So far, normal Leydig and Sertoli cell function was observed in infants and prepubertal KS patients. WHAT IS NEW: ⢠The morphological changes in the testes in KS may already be seen in early infancy.
Assuntos
Síndrome de Klinefelter , Doenças Testiculares , Masculino , Humanos , Lactente , Criança , Adolescente , Testículo/diagnóstico por imagem , Testículo/química , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Doenças Testiculares/complicações , Doenças Testiculares/diagnóstico por imagem , Células Intersticiais do Testículo/química , Testosterona/análiseRESUMO
BACKGROUND: Few studies indicate the occurrence of abnormal nocturnal dipping of blood pressure (BP) in 35-50% of children and adolescents with obesity. The relation between that phenomenon and metabolic complications of obesity remains unclear. To evaluate the association between disorders of glucose and lipid metabolism, and nocturnal non-dipping in pediatric patients with obesity. METHODS: In 207 children (53.14% girls, mean age 14 (range 2-17), mean BMI Z-SCORE 4.38, range 2.07-10.74) standard 24-h Ambulatory Blood Pressure Monitoring was performed. Normal dipping was defined as a ≥ 10% decline in BP during the night. RESULTS: There were 106 (51.21%) cases of non-dippers. The mean 24-h nocturnal systolic BP (SBP) reduction (%) was 9.9 ± 5.5. The mean 24-h nocturnal diastolic BP (DBP) reduction (%) was 15.8 ± 8.5. There was a significant correlation between BMI Z-SCORE and mean day-time SBP (r = 0.14 P = .042). There are positive correlations between 24-h heart rate (beats/min) and BMI Z-SCORE (r = 0.15, P = .027), between fasting glucose and systolic BP Z-SCORE (r = 0.17, P = .03) and between mean diastolic BP and LDL cholesterol (r = 0.23, P = .004). Total cholesterol level was significantly higher in non-dippers (4.34 vs. 3.99 mmol/L, P = .034). There were no significant differences between non-dippers and dippers regarding fasting glucose (4.6 vs. 4.8 mmol/L), 120'post load glucose (5.7 vs. 5.9 mmol/L), insulin (19 vs. 20.2 µIU/mL), HOMA-IR (2.36 vs. 2.44), LDL cholesterol (2.64 vs. 2.51 mmol/L), HDL cholesterol (1.06 vs. 1.03 mmol/L) or triglycerides (1.36 vs. 1.34 mmol/L) levels. CONCLUSION: Nocturnal non-dipping is frequent in pediatric patients with obesity. It is associated with higher total cholesterol levels.
Assuntos
Hipertensão , Obesidade Infantil , Adolescente , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Colesterol , Ritmo Circadiano , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: The clinical value of the diagnosis of metabolic syndrome (MS) in children and adolescents remains unclear. The aim of the present study was to assess the occurrence of metabolic complications, other than included in 2007 IDF MS definition, in obese children and adolescents METHODS: The study included 75 (33 boys) obese adolescents (mean age 13.9 years, mean BMI SDS 4.49). Classical (fasting glucose, TGL, HDL, blood pressure) and non classical (insulin resistance [HOMA-IR], creatinine, AST, ALT, uric acid, fibrinogen, liver US and 24h BP profile) risk factors were compared between groups with and without MS. 15(8 boys) met the 2007 IDF criteria for MS. RESULTS: Patients with MS presented with significantly lower: BMI SDS (4.2 vs. 5.8, p=0.02), mean 24h SBP (0.8 vs. 1.0, p=0.03), and uric acid level (352.1 vs. 414.0, p=0.01). In both groups a significant percentage of abnormal results of 24hABPM (up to 42.9 and 57.6%), insulin resistance (85.7 % and 61.1%), non alcoholic fatty liver disease (57.4 % and 38.9 %) and hyperuricemia (69.2 % and 55.3%) was observed. CONCLUSION: Recognizing the metabolic syndrome in adolescents does not provide any additional clinical benefits. It seems that in every obese child a wide, personalized diagnostic work-up should be performed.
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Síndrome Metabólica/diagnóstico , Obesidade/terapia , Adolescente , Biomarcadores , Glicemia/análise , Índice de Massa Corporal , HDL-Colesterol/sangue , Feminino , Humanos , Resistência à Insulina , Masculino , Síndrome Metabólica/complicações , Síndrome Metabólica/terapia , Hepatopatia Gordurosa não Alcoólica/complicações , Obesidade/diagnóstico , Fatores de Risco , Ácido Úrico/análise , Circunferência da CinturaRESUMO
PURPOSE: The metabolic effects of prepubertal low-dose estrogen replacement (LE) therapy in Turner syndrome (TS) have not been fully investigated to date. The present study aimed to compare glucose and lipids metabolism in adolescents with TS on LE and conventional estrogen replacement (CE). METHODS: In 14 TS (mean age 13.8), LE (17ß-estradiol, 62.5 µg daily) was introduced before age 12 (mean age 10.5), and followed by a pubertal induction regimen after age 12, and in 14 CE was started after age 12 (mean 14, SD 1.96). Before, and 3 years after starting 17ß-estradiol growth velocity, bone age, BMI, and selected parameters of glucose and lipids metabolism were assessed. RESULTS: There were no significant differences between LE and CE in the mean levels of any parameter before introduction of 17ß-estradiol [total cholesterol (TC): 4.1 vs 4.3 mmol/L, LDL cholesterol (LDLc): 2.2 vs 2.4 mmol/L, HDL cholesterol (HDLc): 1.6 vs 1.4 mmol/L, triglycerides: 0.9 vs 1.0 mmol/L, fasting glucose: 4.2 vs 4.4 mmol/L, post-load glucose: 4.8 vs 5.5 mmol/L; fasting insulin: 6.8 vs 8.0 post-load insulin: 21.3 vs 67.0 µIU/mL, HOMA-IR 1.3 vs 1.6]. After three years of treatment, TC and LDLc levels were significantly lower in LE group (3.8 vs 4.4 mmol/L, p = 0.004; 1.9 vs 2.4 mmol/L, p = 0.03). The other parameters did not differ significantly. There was no negative impact on growth course and bone age advancement nor on BMI in LE group. CONCLUSION: Prepubertal LE is associated with healthier lipid profile than CE in girls with TS.
Assuntos
Biomarcadores/sangue , Terapia de Reposição de Estrogênios , Estrogênios/uso terapêutico , Lipídeos/sangue , Puberdade/sangue , Síndrome de Turner/sangue , Adolescente , Criança , Feminino , Humanos , Puberdade/efeitos dos fármacos , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/patologiaRESUMO
BACKGROUND: Patients with congenital adrenal hyperplasia (CAH) are at risk of vascular and metabolic complications due to steroid therapy and increased adrenal androgens exposure. OBJECTIVE: of the study was to evaluate the relation between patient's genotype and (1) intima media thickness of abdominal aorta (AIMT) and common carotid arteries (CIMT) and (2) metabolic profile. MATERIAL AND METHODS: In 71 patients (27 boys) aged from 1.5 to 17.9 years, with 21-hydroxylase deficiency (21OHD) CAH: 9 with nonclassic (NC) CAH, 62 with classic CAH: 10 with simple virilising (SV) and 52 with salt wasting (SW) CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 24-other genotypes), and in 77 lean and 36 normotensive obese, age and gender matched controls, assessment of CIMT and AIMT as well as hormonal and biochemical evaluation were performed. RESULTS: The highest AIMT was observed in SW Del/Del and I2G/I2G groups and the highest CIMT in SV CAH subgroup. CIMT and AIMT correlated significantly with testosterone and free androgen index (FAI), and were significantly higher in patients with advanced bone age and obesity independent. Significantly higher HOMA, testosterone and FAI values were found in SV CAH. CONCLUSION: In CAH patients CIMT and AIMT are influenced by androgens and obesity independent. In the examined group vascular and metabolic abnormalities are pronounced more in certain subgroups of CAH (SV and SW: Del/Del) and in patients with advanced bone age.
Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Aorta Abdominal/diagnóstico por imagem , Artérias Carótidas/diagnóstico por imagem , Espessura Intima-Media Carotídea , Genótipo , Adolescente , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Resistência à Insulina/fisiologia , Masculino , Testosterona/sangueRESUMO
BACKGROUND: The coincidence of autoimmune thyroiditis (AIT) in patients with papillary thyroid carcinoma (PTC) is ranging between 10 and 58% in the general population. MATERIAL AND METHODS: In the present study retrospective ultrasound, clinical and autoimmune assessment of 24 patients diagnosed with papillary thyroid carcinoma between 2000-2016 was performed. RESULTS: The coexistence of PTC and AIT was found in 50% of patients with PTC. Patients were divided into two groups. PTC AIT (+) group involved 12 children at the mean age 14.9 years (range 11-20 years, 9 girls) and PTC AIT (-) 12 children at the mean age 12.9 years (range 7-18 years, 5 girls). Papillary thyroid microcarcinoma (PTMC) was diagnosed in 6 patients (in 5 with AIT). US characteristics of PTC was heterogenous: hypoechogenic with/without increased vascularisation, normoechogenic with halo, with/without microcalcifications. In 70% PTC AIT (+) and in all PTC AIT (-) patients ultrasound analysis revealed that the thyroid tissue of the whole gland was normoechogenic. Local metastases in lymph nodes were found in 40% of PTMC AIT (+). CONCLUSION: Lack of increased vascularization and microcalcifications and presence of``halo`in the nodule does not exclude malignancy. Due to the presence of lymph node involvement in PTMC in all children with PTC total thyroidectomy should be performed with lymph nodes verification.
Assuntos
Carcinoma Papilar/diagnóstico por imagem , Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Tireoidite Autoimune/diagnóstico por imagem , Ultrassonografia , Adolescente , Carcinoma Papilar/complicações , Carcinoma Papilar/patologia , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/patologia , Tireoidite Autoimune/complicações , Tireoidite Autoimune/patologia , Adulto JovemRESUMO
OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. MATERIAL AND METHODS: The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. RESULTS: Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. CONCLUSIONS: Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.
Assuntos
Estatura/efeitos dos fármacos , Desenvolvimento Infantil/efeitos dos fármacos , Hormônio do Crescimento Humano/uso terapêutico , Síndrome de Silver-Russell/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Feminino , Hormônio do Crescimento Humano/administração & dosagem , Humanos , Masculino , Mutação , Polônia , Síndrome de Silver-Russell/genética , Resultado do TratamentoRESUMO
OBJECTIVE: Lifelong steroid therapy and exposure to adrenal androgen excess in 21-hydroxylase deficient (21-OHD) congenital adrenal hyperplasia (CAH) children and adolescents may modify circadian blood pressure profile and result in vascular complications. The objective of the study was to evaluate vascular abnormalities in 21-OHD children and adolescents in relation to their genotypes. DESIGN: A cross-sectional study conducted at a tertiary referral center. PATIENTS: Seventy patients with 21-OHD CAH (27 boys), aged from 3 to 17.9 years: 9 with nonclassic CAH, 61 with classic CAH: 10 with simple virilising (SV) and 51 with salt wasting CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 23-other genotypes). MAIN OUTCOMES MEASURES: The assessment of systolic and diastolic BP (SBP, DBP) loads, night dip% and arterial ambulatory stiffness index (AASI) in 21-OHD CAH patients.
Assuntos
Hiperplasia Suprarrenal Congênita/fisiopatologia , Pressão Sanguínea/fisiologia , Ritmo Circadiano/fisiologia , Genótipo , Rigidez Vascular/fisiologia , Adolescente , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/genética , Pressão Sanguínea/genética , Criança , Pré-Escolar , Ritmo Circadiano/genética , Feminino , Humanos , Hidrocortisona/sangue , Masculino , Globulina de Ligação a Hormônio Sexual/metabolismo , Testosterona/sangue , Rigidez Vascular/genéticaRESUMO
UNLABELLED: The prevalence of type 1 diabetes (T1D) varies greatly between countries. However, over the past several decades, a global rise in the incidence of T1D in the pediatric population has been noted. The aim of our study was to investigate the incidence of T1D in children living in the Lesser Poland during the period of time from January 1, 1987, to December 31, 2012, and to analyze the demographic characteristics and occurrence of diabetic ketoacidosis (DKA) in patients with newly diagnosed T1D in the second part of the study (2006-2012). During 26 years, 636 children (331 boys, 305 girls) aged 0-14 years were newly diagnosed with T1D (0-4 years old, n = 131; 5-9 years old, n = 253, 10-14 years old, n = 252). The standardized incidence ratio (SIR) ranged significantly (p < 0.001) from 5.2/100,000/year in 1987 to 21.9/100,000/year in 2012. The highest SIR was observed in age group 5-9 years old (21.2) and the lowest in 0-4 years old (8.8). There was no association with sex or living in urban or rural area. On admission, DKA was diagnosed in 22.4 % of patients. There were no significant differences relating to the presence of DKA (p = 0.912) in subsequent years. CONCLUSIONS: The incidence of T1D among children is increasing rapidly with the highest SIR in the 5-9 years old age group. DKA is still an important problem in the pediatric population. WHAT IS KNOWN: ⢠The incidence of pediatric type 1 diabetes mellitus in Europe is increasing. The initial manifestation of the type 1 diabetes mellitus is diabetic ketoacidosis. What is New: ⢠This is the longest (26 years) continuous analysis of the incidence of type 1 diabetes in Poland and the first analysis focused on the incidence rate and also on presence of diabetic ketoacidosis.
Assuntos
Glicemia/análise , Diabetes Mellitus Tipo 1/epidemiologia , Cetoacidose Diabética/epidemiologia , Previsões , Adolescente , Distribuição por Idade , Fatores Etários , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Cetoacidose Diabética/sangue , Cetoacidose Diabética/etiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Polônia/epidemiologia , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença , Distribuição por SexoRESUMO
OBJECTIVE: Non-alcoholic fatty liver disease (NAFLD) in obese children is a diagnostic challenge. The enhanced liver fibrosis test (ELF) based on the combination of serum concentration of hyaluronic acid (HA), aminoterminal propeptide of type III procollagen (PIIINP), tissue inhibitor of matrix metalloproteinase type 1 (TIMP-1) was developed as a noninvasive diagnostic tool for estimation of degree of liver fibrosis. The aim of our study was to investigate the performance of ELF test in obese children with ultrasound-proven steatosis in order assess the possibility of early detection of fibrotic changes in liver structure. MATERIAL AND METHODS: 58 obese (BMI >95th percentile) children, 27 male (mean age 13.9±2.65 years) and 31 female (mean age 13.82±2.64 years). Based on the liver ultrasound (US) examination results two groups of obese children were studied: group with steatosis (N=20, 8/12 M/F, mean age 14.2±1.90 years, BMI 32.9±5.60 kg/m2) and group with normal liver US (n=38, 19/19 M/F, mean age 13.7±2.94 years, BMI 30.4±4.67 kg/m2). Serum activity of aminotransferases (AST, ALT) and lactate dehydrogenase (LDH), and γ-glutamyl transpeptidase (GGT), and ELF test (HA, PIIINP, and TIMP-1 were analyzed. RESULTS: Children with liver steatosis presented with significantly higher AST (34.1 vs. 25.6 U/L), ALT (43.4 vs. 32 U/L), LDH (427.5 vs. 361.3 U/L), GGT (30.7 vs. 18.9 U/L). The ELF test value was also significantly higher in that group (8.98 vs. 8.49). Nevertheless no combination of measured parameters with ELF test value show better diagnostic value for differentiation between children with and without steaotosis. CONCLUSION: ELF test cannot be used for assessment of steatosis in obese children.
RESUMO
Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.
Assuntos
Hipopituitarismo/diagnóstico , Adeno-Hipófise/anormalidades , Complicações na Gravidez , Septo Pelúcido/anormalidades , Síndrome de Turner , Antidiuréticos/uso terapêutico , Desamino Arginina Vasopressina/uso terapêutico , Feminino , Terapia de Reposição Hormonal/métodos , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Hipopituitarismo/tratamento farmacológico , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Proteínas Recombinantes/uso terapêutico , Índice de Gravidade de Doença , Tiroxina/uso terapêuticoRESUMO
Cushing syndrome due to ectopic secretion of ACTH in infants is rare. The treatment of choice is radical resection of the tumour in combination with pre-operative chemotherapy using steroidogenesis inhibitors if necessary. If radical surgery is not possible, palliative treatment of hypercortisolemia is recommended. The most frequently used drug in infants is ketoconazole. Experience with the use of metyrapone is poor. We report an 8-month-old female infant with congenital immature sacrococcygeal teratoma secreting AFP, beta hCG and ACTH who had undergone non-radical resection of the tumour mass and was receiving standard risk chemotherapy (vinblastine, bleomycin, and cisplatin). The infant initially presented at the age of 6 months with ACTH-dependent Cushing syndrome (cortisol and ACTH level 325 ng/mL, 112 pg/mL respectively). Treatment with ketoconazole was initiated with a dose of 600 mg/day. Due to its ineffectiveness metyrapne was added in increasing dosages, up to 1,500 mg/day. In addition the schema of chemotherapy was changed (adriamycin, bleomycin, carboplatin), which resulted in normalization of cortisol levels and blood pressure. There were no metyrapone side effects during the treatment period. We can conclude that treatment with metyrapone at a dose of 1500 mg/day might be effective and safe in infants with Cushing syndrome.
RESUMO
Cardiac tumors in infants and children are rare. Myxomas are the second (after rhabdomyomas) most common primary cardiac tumors in pediatric patients. Cardiac, cutaneous and mucous myxomas are likewise the second most frequent manifestation of the Carney complex, an autosomal dominant multi neoplasia syndrome, which consists of myxomas in different locations, spotty skin pigmentation and endocrine overactivity. We present a case of 13-years-old boy send to our department from a district hospital because of the large tumor in the right atrium discovered in the echo study. On admission he presented discrete signs of Cushing's syndrome and scarse pigmented nevi on the face and trunc. The detailed echo examination showed the large right atrial tumor with features of myxoma, protruding across the tricuspid valve into the right ventricle during diastolic period. Atypical location of cardiac myxoma as well as the signs of Cushing's syndrome suggested Carney's complex. Detailed endocrine studies confirmed the hypothesis. Thus two-step bilateral adrenalectomy was planned. The histopathologic study confirmed primary pigmented nodular adrenocortical disease.
Assuntos
Complexo de Carney/diagnóstico , Síndrome de Cushing/diagnóstico , Adolescente , Humanos , MasculinoRESUMO
OBJECTIVE: In this paper, the etiology, differential diagnosis, and therapy of testicular adrenal rest tumors (TARTs) is presented based on a patient presentation and an overview of the most recent literature concerning this subject. METHODS: Retrospective analysis of the clinical and biochemical data of an 18-year-old male patient diagnosed at the age of 2 weeks with the classic salt-wasting form of congenital adrenal hyperplasia that has been monitored in the pediatric and adolescent outpatient department since the age of 4 years. RESULTS: The results of adrenal hormone tests (17-hydroxyprogesterone, 17-ketosteroids, and pregnanes) had been unsatisfactory, particularly over the previous 5 years. Scrotal ultrasound detected TARTs bilaterally. After increasing the dose of hydrocortisone and introducing dexamethasone, considerable regression of the tumors was noted. CONCLUSION: Lack of complete regression of the lesions is caused by fibrosis and is probably due to decreased sensitivity of adrenocorticotropic hormone and angiotensin II receptors in this tissue.
Assuntos
Hiperplasia Suprarrenal Congênita , Tumor de Resto Suprarrenal , Neoplasias Testiculares , Adolescente , Humanos , Hidrocortisona , Masculino , Estudos RetrospectivosRESUMO
Cerebral salt wasting syndrome (CSW-cerebral salt wasting) was first described in 1950 by Peters. This syndrome can occur in patients who have sustained damage to the central nervous system (e.g. patients with subarachnoid bleeding, bacterial meningitis or after neurosurgery). Patients present with excessive natriuresis and hyponatremic dehydration. Differentiating this syndrome with the syndrome of inappropriate antidiuretic hormone secretion (SIADH-syndrome of inappropriate antidiuretic hormone secretion), which may occur in the same group of patients, is necessary in order to administer the correct treatment which consists of fluid restriction and sodium replacement in SIADH and fluid and sodium replacement as well as occasional mineralocorticoid therapy in CSW.
Assuntos
Cérebro/metabolismo , Diabetes Insípido/sangue , Hiponatremia/sangue , Complicações Intraoperatórias , Complicações Pós-Operatórias/sangue , Sódio/sangue , Derivação Ventriculoperitoneal/efeitos adversos , Adulto , Cérebro/cirurgia , Diabetes Insípido/urina , Diagnóstico Diferencial , Humanos , Hiponatremia/urina , Complicações Pós-Operatórias/urina , Período Pós-Operatório , Sódio/urina , Síndrome , Adulto JovemRESUMO
OBJECTIVE: Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15 epimutation, present in 20-60% patients, and a maternal uniparental chromosome 7 disomy (7-15%) (upd(7)mat). Children with SRS suffer from physical growth impairments - intrauterine and after birth. MATERIAL AND METHODS: The study group consisted of 38 children aged 2 to 17 (x=8.9 ± 4.0 years). These children had undergone a genetic analysis in search for the 11p15 epimutation and the upd(7)mat. Somatic growth was also analysed in terms of birth parameters and postnatal BMI, weight and height. The aforementioned parameters were compared in a subgroup of children with the genetic aberrations and with a control group of children born with IUGR. RESULTS: In the study group a mean weight SD on birth was -3.41 ± 1.22, the birth height was -1.25 ± 2.08 SD and a head circumference of -3.56 ± 1.93 SD. No significant differences were noted between the SRS study group and the control group in reference to weight and head circumference (p>0.05). Such difference was, however, seen in birth height. Children with 11p15 epimutation had significantly lower weight and height at birth, but a significantly larger head circumference than children without this genetic aberration. When analysing further development of children with SRS, a significantly smaller height SD, body mass and BMI was observed, compared with children from the control group. CONCLUSIONS: Children with SRS present impaired somatic development compared to children with IUGR, and these with a genetic aberration develop worse.
Assuntos
Desenvolvimento Infantil/fisiologia , Retardo do Crescimento Fetal/fisiopatologia , Síndrome de Silver-Russell/fisiopatologia , Adolescente , Peso ao Nascer/fisiologia , Estatura/fisiologia , Índice de Massa Corporal , Criança , Pré-Escolar , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 7/genética , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Polônia , Distribuição Aleatória , Síndrome de Silver-Russell/genética , Fatores de TempoRESUMO
INTRODUCTION: The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment. MATERIAL AND METHODS: Four boys were analyzed: three patients diagnosed with SNP at the ages of 1) 8 years and 2 months, 2) 13 years and 2 months, 3) 16 years and 6 months, and patient 4) at the age of 6 years and 11 months - born small for gestational age (SGA). They underwent rhGH treatment. RESULTS: The expected growth improvement was not observed in all boys. Patient 1 was diagnosed with aortic coarctation, and after each attempt to increase the rhGH dose, nocturnal vomiting occurred - epilepsy was diagnosed. Patient 2 had severe foot pain. Patient 3 had delayed puberty - hypogonadotropic hypogonadism was diagnosed. Patient 4 had dysmorphic features. Genetic tests revealed the following: 1) mixed gonadal dysgenesis - modifying treatment; 2) Fabry disease - enzyme treatment and rhGH improved growth; 3) Kallmann syndrome - discontinuing rhGH for testosterone supplementation; 4) KBG syndrome. CONCLUSIONS: 1. The presence of dysmorphic features and symptoms atypical for growth hormone deficiencies could warrant genetic diagnostics before initiating treatment. 2. Lack of significant improvement in growth is an indication for reevaluation of patients who have not completed growth. 3. Genetic studies in this patient group often elucidate the causes of slow growth rate. 4. The case authors have developed a proposal for a multicentre program aimed at establishing indications for genetic diagnosis in children diagnosed with SNP and SGA treated with rhGH.