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This study aimed to examine the health-related quality of life (HrQoL), coping, height-related beliefs, and social support of children/adolescents with short stature, the sociodemographic, clinical, and psychosocial variables associated with HrQoL, and the moderating role of sociodemographic and clinical variables on the associations between psychosocial variables and HrQoL. 114 Portuguese children/adolescents with short stature, aged 8-18 years old, completed the Quality of Life in Short Stature Youth questionnaire and the Satisfaction with Social Support Scale. Regression analyses explained 54% of the variance of HrQoL, with significant main effects of current height deviation and height-related beliefs, and a significant interaction effect between beliefs and diagnosis. Results suggest that a multidisciplinary therapeutic approach, not only focused on hormone treatment to boost physical growth, but also including psychosocial interventions focused on the modification of height-related beliefs, may contribute to improve the HrQoL of pediatric patients with short stature.
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Enanismo , Calidad de Vida , Adolescente , Estatura , Niño , Cognición , Enanismo/psicología , Humanos , Padres/psicología , Calidad de Vida/psicología , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To investigate in a large population the proportion of daily basal insulin dose (BD) to daily total insulin dose (TD) (BD/TD) and its association with glycated hemoglobin A1c (HbA1c), body mass index (BMI)- SDS, and treatment modality in children with type 1 diabetes. STUDY DESIGN: Cross-sectional study in subjects with type 1 diabetes, age ≤18 years, and ≥2 years of diabetes duration, registered in the international multicenter Better control in Pediatric and Adolescent diabeteS: Working to crEate CEnTers of Reference registry in March 2018. Variables included region, sex, age, diabetes duration, treatment modality (multiple daily injections [MDI] or continuous subcutaneous insulin infusion [CSII]), self-monitoring blood glucose, HbA1c, BD/TD, and BMI-SDS. BMI was converted to BMI-SDS using World Health Organization charts as reference. Hierarchic linear regression models were applied with adjustment for age, sex, and diabetes duration. RESULTS: A total of 19â687 children with type 1 diabetes (49% female, 49% CSII users) with median age 14.8 (11.5; 17.2) years and diabetes duration 6.0 (3.9; 9.0) years were included. HbA1c was 63 (55; 74) mmol/mol (7.9 [7.2; 8.9]%), and BMI-SDS 0.55 (-0.13; 1.21). Unadjusted, a lower BD/TD was associated with lower HbA1c, male sex, younger age, shorter diabetes duration, lower BMI-SDS, higher numbers of self-monitoring blood glucose and CSII (all P < .01). After adjustment for confounders, lower BD/TD was associated with lower HbA1c (P < .01) and lower BMI-SDS (P < .01) in children on CSII, but not on MDI. CONCLUSIONS: Lower BD/TD is positively associated with lower HbA1c and lower BMI-SDS in children with type 1 diabetes on CSII. It remains to be investigated in a prospective study whether reducing BD/TD insulin will improve metabolic control and normalize body weight in children with type 1 diabetes.
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Índice de Masa Corporal , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hemoglobina Glucada/análisis , Hipoglucemiantes/administración & dosificación , Insulina/administración & dosificación , Adolescente , Automonitorización de la Glucosa Sanguínea , Niño , Estudios Transversales , Diabetes Mellitus Tipo 1/sangre , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Inyecciones Subcutáneas , Sistemas de Infusión de Insulina , Masculino , Sistema de RegistrosRESUMEN
PURPOSE: Guidelines on pituitary incidentalomas evaluation and management are limited to adults since there are no data on this matter in the paediatric population. We aim to analyse the morphologic characteristics, hormonal profile and follow-up of these lesions in children. METHODS: We have searched for pituitary incidentalomas in the neuroimaging reports and electronic medical records of the Paediatric Endocrinology Clinic of our centre. Patients with 18 years-old or less were included. RESULTS: Forty-one incidentalomas were identified, 25 of them (62.4%) in females. The mean age at diagnosis was 12.0 ± 4.96 years-old. Headaches were the main reason that led to image acquisition (51.2%) and MRI was the imaging method that detected the majority of the incidentalomas (70.7%). The most prevalent lesion was pituitary hypertrophy (29.3%), which was mainly diagnosed in female adolescents (91.7%), followed by arachnoid cysts (17.1%), pituitary adenomas (14.6%) and Rathke's cleft cysts (12.2%). Most patients (90.2%) did not present clinical or laboratorial findings of hypopituitarism or hormonal hypersecretion. Four patients presented endocrine dysfunction: three had growth hormone deficiency and one had a central precocious puberty. Twenty-three patients (56.1%) underwent imagiological revaluation during a median follow-up time of 24.6 months (interquartile range 5.07). None of them presented dimensional progression. CONCLUSIONS: To the best of our knowledge, this is the first series of pituitary incidentalomas in pediatric age. Comparing our series with those conducted in adults, we have observed a higher preponderance of pituitary hypertrophy over adenomas, a lower prevalence of hormonal hyper/hyposecretion and lower risk of dimensional progression during follow-up.
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Neuroimagen/métodos , Hipófisis/diagnóstico por imagen , Neoplasias Hipofisarias/diagnóstico por imagen , Adolescente , Niño , Femenino , Humanos , Masculino , Pediatría/métodos , Estudios RetrospectivosRESUMEN
OBJECTIVE: The reason for center differences in metabolic control of childhood diabetes is still unknown. We sought to determine to what extent the targets, expectations, and goals that diabetes care professionals have for their patients is a determinant of center differences in metabolic outcomes. RESEARCH DESIGN AND METHODS: Children, under the age of 11 with type 1 diabetes and their parents treated at the study centers participated. Clinical, medical, and demographic data were obtained, along with blood sample for centralized assay. Parents and all members of the diabetes care team completed questionnaires on treatment targets for hemoglobin A1c (HbA1c) and recommended frequency of blood glucose monitoring. RESULTS: Totally 1113 (53% male) children (mean age 8.0 ± 2.1 years) from 18 centers in 17 countries, along with parents and 113 health-care professionals, participated. There were substantial differences in mean HbA1c between centers ranging from 7.3 ± 0.8% (53 mmol/mol ± 8.7) to 8.9 ± 1.1% (74 mmol/mol ± 12.0). Centers with lower mean HbA1c had (1) parents who reported lower targets for their children, (2) health-care professionals that reported lower targets and more frequent testing, and (3) teams with less disagreement about recommended targets. Multiple regression analysis indicated that teams reporting higher HbA1c targets and more target disagreement had parents reporting higher treatment targets. This seemed to partially account for center differences in Hb1Ac. CONCLUSIONS: The diabetes care teams' cohesiveness and perspectives on treatment targets, expectations, and recommendations have an influence on parental targets, contributing to the differences in pediatric diabetes center outcomes.
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Instituciones de Atención Ambulatoria/normas , Actitud del Personal de Salud , Diabetes Mellitus Tipo 1/terapia , Hemoglobina Glucada/metabolismo , Niño , Diabetes Mellitus Tipo 1/sangre , Femenino , Humanos , Masculino , Padres/psicología , Pediatría/normasRESUMEN
INTRODUCTION: Hyponatremia is a common electrolyte alteration which has the potential for significant morbidity and mortality. Endocrine disorders, such as primary hypothyroidism and adrenal insufficiency are uncommon causes of hyponatremia. We present the case of a teenager with symptomatic hyponatremia caused by a rare disorder. CASE: A 17-year-old boy was admitted to the emergency department with abdominal pain, nausea and vomiting, asthenia, and weight loss. He was in poor general condition, hypotensive, and he had dry mucous membranes and skin as well as mucosa hyperpigmentation. The laboratory findings showed severe hyponatremia, hyperkalemia, and renal dysfunction. The patient started inotropic support and antibiotics. Plasma cortisol and corticotropin levels allowed the diagnosis of primary adrenal insufficiency. He began replacement therapy with hydrocortisone and fludrocortisone, with gradual symptom resolution. An abdominal computed tomography scan showed adrenal hypoplasia. Findings for antiadrenal and antithyroid antibodies were positive, allowing the diagnosis of autoimmune polyglandular syndrome type II. DISCUSSION: Adrenal insufficiency is a rare disease, especially in children, and its clinical manifestations are due to glucocorticoid and mineralocorticoid deficiency. In most of the cases, symptoms are nonspecific, requiring a high index of clinical suspicion. If the diagnosis and treatment are delayed, acute adrenal insufficiency carries a high morbidity and mortality.
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Enfermedad de Addison/diagnóstico , Hiponatremia/diagnóstico , Enfermedad de Addison/complicaciones , Enfermedad de Addison/tratamiento farmacológico , Adolescente , Hormona Adrenocorticotrópica/sangre , Aldosterona/sangre , Antiinflamatorios/uso terapéutico , Combinación de Medicamentos , Fludrocortisona/uso terapéutico , Humanos , Hidrocortisona/sangre , Hidrocortisona/uso terapéutico , Hiponatremia/tratamiento farmacológico , Hiponatremia/etiología , Infusiones Intravenosas , Masculino , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: Cushing's disease (CD) is a diagnostic and therapeutic challenge, especially in pediatric patients. CD, primarily caused by adrenocorticotropic hormone-secreting pituitary adenomas, manifests typically with growth retardation and weight gain. There are no published guidelines for pediatric patients. CASE PRESENTATION: We report three pediatric patients diagnosed with CD in a Portuguese tertiary hospital. All patients presented with hypercortisolism features. All patients underwent transsphenoidal pituitary surgery (TSS) as a first-choice treatment; however, it was unsuccessful in one patient and the other patients experienced recurrence. Patients were submitted to different approaches so basal serum cortisol levels could be achieved. Two of three patients achieved remission. CONCLUSIONS: TSS remains the first-line treatment yet challenging due to microadenomas and technical complexities. Medical therapy with agents like metyrapone or ketoconazole, pituitary radiotherapy, or bilateral adrenalectomy are, usually, second-line interventions, unless there is a contraindication to surgery. Our findings support the finding that a shorter hypothalamic-pituitary-adrenal axis recovery time increases the risk of recurrence of CD. Our cases illustrate the intricate management and variable outcomes of pediatric CD, underscoring the importance of multidisciplinary care and continuous surveillance.
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Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT) , Humanos , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/cirugía , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/terapia , Femenino , Masculino , Niño , Adolescente , Pronóstico , Resultado del Tratamiento , Adenoma/cirugía , Adenoma/patología , Adenoma/complicaciones , Adenoma/terapiaRESUMEN
INTRODUCTION: Turner syndrome (TS), one of the most common chromosomal abnormalities in females, often results in adult cardiovascular and metabolic complications. Information on pediatric age is scarce. This study aimed to compare the presence of cardiometabolic risk factors in children with TS and healthy controls. METHODS: This is a cross-sectional study comparing patients with TS to age-matched healthy controls, regarding cardiometabolic risk factors including lipid profile, fasting glucose, insulin resistance, body composition, body mass index, blood pressure, and carotid intima-media thickness (cIMT). RESULTS: We included nine TS patients and nine controls with a median age of 13 years (9-14 years). Three TS patients and three controls were prepubertal. All TS patients received growth hormone treatment (GHT), median treatment of six years (3-10 years); four patients underwent treatment with estradiol. No statistically significant differences were detected between TS patients and controls regarding body mass index (BMI), cholesterol levels, and insulin resistance. cIMT indexed to body surface area showed no significant differences between TS patients and controls (0.37 vs 0.35 mm/m2, respectively, p=0.605). TS patients had lower body fat levels (7.2% vs 34.9%, p=0.004). On the other hand, TS patients had higher levels of systolic (z-score 1.04 vs -0.08, p=0.001) and diastolic (z-score 1.08 vs 0.33, p=0.031) blood pressure (BP) and aspartate (AST) and alanine (ALT) aminotransferase levels (26 vs 20 U/L, p=0.008 and 19 vs 14 U/L, p=0.004, respectively). CONCLUSION: Patients with TS, all submitted to GHT, had lower body fat levels compared with controls, despite similar BMI. Although we found no differences in cIMT between the two groups, young girls with TS had higher BP and transaminase levels. Early anthropometric, cardiovascular, and analytical monitoring of patients with TS is essential to detect abnormalities and prevent further complications.
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INTRODUCTION: Craniopharyngiomas (CP) are tumors in the sellar region that, despite a high survival rate, are associated with significant morbidity, including hypothalamic, hormonal, and visual dysfunction. This study aimed to assess the quality of life (QoL) in pediatric patients with CP and to evaluate its relationship with various factors, with a focus on the impact of endocrine dysfunction. METHODS: In this observational cross-sectional study, patients with CP aged between 0 and 18 years, currently followed up in a tertiary hospital by a multidisciplinary team, were included. QoL was assessed using the validated PEDS-QL4.0 questionnaire, which was administered to parents. This tool estimates Global QoL (QoL-G), further divided into Physical (QoL-P) and Psychosocial (QoL-PS) dimensions, including Emotional (QoL-Em), Social (QoL-S), and School (QoL-Sc) aspects. In Portugal, the estimated average QoL-G is 79.8, QoL-P is 83.5, and QoL-PS is 78.2. Variables studied included gender, current and diagnostic age, follow-up time, presence of hydrocephalus, hypothalamic involvement, type of resection (total or subtotal), radiotherapy, visual impairment, hormonal deficits, and therapy. RESULTS: The study included 11 patients with a median age of 15.2 years (interquartile ratio (IQR), 9.7-17.9 years) and a mean age at diagnosis of 9.3±4.1 years. Of these patients, 54.5% were male, and 36.4% were obese. Subtotal resection was performed in 72.7% of cases. Hydrocephalus was present in 54.5% of the patients, hypothalamic involvement in 63.7%, radiotherapy was received by 81.8%, and visual impairment was noted in 54.5%. All patients presented with at least one hormonal deficit. The average QoL-G was 69.9±22.5, with QoL-P at 66.9±30.0 and QoL-PS at 70.9±21.4. A worse QoL-S was associated with female gender (p=0.030) and subtotal resection (p=0.048). Worse QoL-G, QoL-P, QoL-Em, and QoL-PS were linked to hypothalamic involvement (p values 0.008, 0.025, 0.015, and 0.009, respectively). Irradiated patients had worse QoL-G (p=0.006). Treatment with sexual hormones enhanced QoL-Global (p=0.035) and QoL-Emotional (p=0.020), while treatment for adrenal insufficiency and diabetes insipidus improved QoL-Emotional (p=0.021 and p=0.013). No significant associations with visual deficit or obesity were found. CONCLUSIONS: Pediatric patients with CP appear to have poorer QoL-G, QoL-P, and QoL-PS compared to the healthy Portuguese population. However, the small sample size limits statistically significant associations with many of these variables. Predictors of worse QoL include female gender, hypothalamic involvement, subtotal resection, and radiotherapy. The results may be biased due to the small sample size, questionnaire administration to parents, and possible inadequacy of the questionnaire for the studied population. There is a need for a more suitable tool to enable a more precise assessment of QoL in these patients.
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AIM: The association between glycemic control and metabolic status is poorly defined in children and adolescents with T1D, besides being biologically plausible. We aimed to evaluate the association between glycemic control and body mass index (BMI), blood pressure (BP), and lipid profile in children and adolescents with T1D. METHODS: Observational cross-sectional study including children and adolescents (5-18 years old) followed in our outpatient clinic with the diagnosis of T1D for at least a year. We used linear regression models (unadjusted and adjusted to sex and age) to evaluate the association between glycated hemoglobin (A1c) and time in range (TIR), several prespecified metabolic parameters, and prespecified demographic and clinical characteristics. We considered a p-value of <0.05 to be statistically significant. RESULTS: A total of 144 patients were included, 51% of whom were female. The population had a mean age of 12.7±3.4 years old. We report a positive association between A1c and BMI, systolic and diastolic BP, total- and LDL-cholesterol and triglycerides. Females and patients diagnosed at a younger age presented with higher A1c values. There is a tendency for a negative association between TIR and the former parameters. Higher A1c levels and lower TIR were associated with higher glycemic variability and were treated with a higher basal insulin per Kg dose. CONCLUSION: Our results support an important association between worse glycemic control and an unhealthier metabolic profile in children and adolescents with T1D. We can hypothesize that a good glycemic profile is needed to achieve good metabolic control at a young age.
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Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Methods: Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete CYP21A2 molecular analysis due to suspicion of NC-CAH. We divided included participants into three groups according to the CYP21A2 molecular analysis: NC-CAH females (46), heterozygous carriers (49), and wild type (36). We then compared clinical signs and symptoms as well as biochemical and molecular data between carriers and NC-CAH individuals and between carriers and wild type females. We measured 17OHP by electrochemiluminescence immunoassay. Results: Clinical features were similar between groups. Heterozygous carriers presented higher basal and post-cosyntropin 17-hydroxyprogesterone (17OHP) than wild type individuals (p < 0.05) and lower basal and stimulated 17OHP levels than NC-CAH patients (p < 0.05). We discovered a considerable overlap between 17OHP levels among groups. The most common pathogenic variant we identified was p.Val282Leu. Conclusion: In this population of hyperandrogenic women and children, heterozygous carriers showed higher basal and stimulated 17OHP than non-carriers although normal basal and stimulated 17OHP responses do not exclude heterozygosity for CYP21A2 pathogenic variants. In this study, only the molecular analysis presented good sensitivity in identifying heterozygotes.
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Hiperplasia Suprarrenal Congénita , Esteroide 21-Hidroxilasa , 17-alfa-Hidroxiprogesterona , Adolescente , Hiperplasia Suprarrenal Congénita/genética , Niño , Femenino , Heterocigoto , Humanos , Hiperplasia , Masculino , Mutación/genética , Reproducibilidad de los Resultados , Estudios Retrospectivos , Esteroide 21-Hidroxilasa/genéticaRESUMEN
Introduction Recombinant human growth hormone (rhGH) replacement therapy might be able to induce hypothyroidism, but this is a controversial issue. Previous studies evaluated the effects of rhGH replacement therapy on thyroid function, but little information is available in the subset of children with isolated idiopathic growth hormone deficiency (GHD). Our aim was to assess the effects of rhGH replacement therapy on thyroid function in children with isolated idiopathic GHD. Methods Retrospective analysis of the medical files of 64 children with confirmed GHD treated with rhGH. After review, 56 children with isolated idiopathic GHD and treated with rhGH for at least one year were included. Auxological (weight standard deviation score [SDS], height SDS, growth velocity [GV] SDS) and biochemical (free thyroxine [FT4], thyroid-stimulating hormone [TSH], and insulin-like growth factor 1 [IGF-1]) parameters were recorded before, during, and after treatment with rhGH. Results FT4 and TSH levels decreased significantly during rhGH therapy in children with isolated idiopathic GHD. Twenty-one percent (n=12) of the children developed hypothyroidism, on average 47 months after initiation of rhGH. Higher baseline FT4 levels were protective against the need for levothyroxine (LT4) (OR=0.8, CI 0.592-0.983; p=0.036). Hypothyroidism was reversed after interruption of rhGH, except in one patient; FT4 levels returned to baseline in the first year after completing the treatment. Final height SDS of the children who developed hypothyroidism was not different from their counterparts without hypothyroidism (-1.24 [-1.52 to -1.10] vs -1.13 [-1.78 to -0.74], p=1.000). Predicted adult height (PAH) SDS in patients who completed rhGH treatment was similar in both LT4 supplemented (n=7; final Ht SDS -1.16 [-1.31 to -1.10] vs PAH -1.00 [-1.42 to -0.48]; p=0.398) and not supplemented patients (n=25; final Ht SDS -1.46 [-1.83 to -0.78] vs PAH SDS -0.88 [-1.35 to -0.56]; p=0.074). Conclusions Our results show that patients with isolated idiopathic GHD may transiently need LT4 during GH treatment. Properly supplemented patients achieved PAH.
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Neoplasias de la Corteza Suprarrenal , Carcinoma Corticosuprarrenal , Síndrome de Li-Fraumeni , Neoplasias de la Corteza Suprarrenal/complicaciones , Neoplasias de la Corteza Suprarrenal/diagnóstico , Neoplasias de la Corteza Suprarrenal/patología , Carcinoma Corticosuprarrenal/complicaciones , Niño , Humanos , Síndrome de Li-Fraumeni/complicaciones , Síndrome de Li-Fraumeni/genética , Proteína p53 Supresora de TumorRESUMEN
The most frequent type of thyroid malignancy in children is papillary thyroid carcinoma (PTC), which usually presents as a thyroid nodule, but may also present as a diffuse infiltration with microcalcifications. Herein, we report the case of an uncommon presentation of a PTC in a 7-year-old boy. The child was referred for a goiter with cervical lymphadenopathies. Ultrasonography showed a hypervascularised goiter without microcalcifications but with numerous bilateral cervical nodular formations. A lymph node biopsy revealed metastatic thyroid cancer, hence a total thyroidectomy and complete neck dissection were performed. Histopathology confirmed a PTC. Ablative 131I, 30 mCi was performed 4 months postsurgery. At the end of this treatment, a metastatic lung nodule was identified. Since then, another three ablative 131I treatments have been administered. Thyroid cancers presenting as a diffuse infiltration without microcalcifications are rare. In the presence of lymphadenopathies, thyroid cancer needs to be suspected, even without microcalcifications.
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Calcinosis , Carcinoma Papilar , Bocio , Linfadenopatía , Neoplasias de la Tiroides , Calcinosis/diagnóstico por imagen , Carcinoma Papilar/diagnóstico por imagen , Carcinoma Papilar/cirugía , Niño , Humanos , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/cirugía , Metástasis Linfática , Masculino , Cáncer Papilar Tiroideo/cirugía , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/cirugía , TiroidectomíaRESUMEN
Background Non-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients. Pediatric Quality of Life Inventory 4.0 (PedsQL™) is a validated tool to assess health-related QoL (HRQoL). Methods A cross-sectional study including 19 patients with NC-CAH was carried out in the pediatric endocrinology department. NC-CAH patients who agreed to participate were included. Anthropometric data was collected. PedsQL™ was applied to the patients and their parents. Patients were divided into four groups according to age: 2-4, 5-7, 8-12, and 13-18 years old. The control group consisted of healthy individuals from the instrument's validation studies for the Portuguese population and the standard control population used in the PedsQL™ validation study. Results The only difference found concerns the parents' score results for children aged 8-12, which showed physical health and emotional dimension scores significantly higher (86.16±9.86 vs.68.90±23.02 p=0.004, 69.17±14.14 vs. 65.82±19.24 p=0.004), while psychosocial health's score and total scale score were significantly lower than the control group (59.99±9.90 vs. 69.34±14.07 p=0.047, 73.11±4.65 vs.78.86±16.61 p=0.017). Conclusion HRQoL scores are not negatively affected by NC-CAH in most group ages, with the exception of the parents' reports on HRQoL for children aged 8-12. Further studies with a greater number of patients are needed to determine the impact of this chronic disease on the HRQoL of children.
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Hipoglucemia/etiología , Hipopituitarismo/congénito , Hipopituitarismo/diagnóstico , Ictericia Obstructiva/etiología , Hepatopatías/etiología , Encéfalo/diagnóstico por imagen , Niño , Retardo del Crecimiento Fetal , Humanos , Hipoglucemia/diagnóstico , Hipopituitarismo/complicaciones , Lactante , Recién Nacido , Hepatopatías/complicaciones , Hepatopatías/diagnóstico , Imagen por Resonancia MagnéticaRESUMEN
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Necrosis Grasa , Hipercalcemia , Humanos , Recién Nacido , Necrosis , Grasa SubcutáneaRESUMEN
INTRODUCTION: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome. It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene (WFS1). The phenotypic pleiomorphism, rarity, and molecular complexity complicate the follow-up of these patients. MATERIAL AND METHODS: We aimed to describe the clinical characteristics and the follow-up of 11 patients with this disorder. We retrospectively analysed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal. RESULTS: Eleven patients were included. Four patients had all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in 9 patients, optic atrophy (OA) in another patient, and diabetes insipidus (DI) in another one. The median age of DM and OA diagnosis was 6 and 14 years, respectively. Nine patients had diabetes mellitus, and the other 2 patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence. Four patients had hearing impairment, 5 had urological abnormalities, 5 had neurological disorders, and 8 had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. CONCLUSION: The information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.
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Diabetes Insípida , Atrofia Óptica , Síndrome de Wolfram , Adolescente , Niño , Humanos , Proteínas de la Membrana/genética , Atrofia Óptica/genética , Portugal , Estudios Retrospectivos , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/genéticaRESUMEN
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Mama/anomalías , Hipertrofia/diagnóstico , Hipertrofia/tratamiento farmacológico , Mama/patología , Niño , Antagonistas de Estrógenos/uso terapéutico , Femenino , HumanosRESUMEN
CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.
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Síndrome CHARGE , Femenino , Hormona del Crecimiento , Hormona de Crecimiento Humana , Humanos , Recién Nacido , MutaciónRESUMEN
An individual's sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the SRY gene locus found on one of his X chromosomes. A multidisciplinary approach, including psychological support and genetic counseling, is ideal for the management of these patients. Neoplastic transformation of the dysgenetic gonads has been described in several cases, and hence self-examinations and regular ultrasounds are commonly advised.