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INTRODUCTION: Adrenocortical carcinoma (ACC) is rare and an aggressive tumour. Mitotane is the mainstay adjuvant drug in treating ACC. The study aimed to describe patients diagnosed with precocious puberty (PP) and other endocrinological complications during mitotane therapy. MATERIAL AND METHODS: This retrospective study enrolled 4 patients with ACC treated with mitotane therapy complicated by PP. We analysed clinical manifestations, radiological, histopathological findings, and hormonal results. RESULTS: The median age at the diagnosis of ACC was 1.5 years. All patients were treated with surgery and mitotane, accompanied by chemotherapy regimens in 2 cases. The median time from surgery to the initiation of mitotane therapy was 26 days. During mitotane treatment, PP was confirmed based on symptoms, and hormonal and imaging tests. In one patient, incomplete peripheral PP was followed by central PP. The median time from the therapy initiation to the first manifestations of PP was 4 months. Additionally, due to mitotane-induced adrenal insufficiency, patients required a supraphysiological dose of hydrocortisone (HC), and in one patient, mineralocorticoid (MC) replacement with fludrocortisone was necessary. In 2 patients, hypothyroidism was diagnosed. All patients presented neurological symptoms of varying expression, which were more severe in younger children. CONCLUSIONS: The side effects of using mitotane should be recognized quickly and adequately treated. In prepubertal children, PP could be a complication of therapy. The need to use supraphysiological doses of HC, sometimes with MC, should be highlighted. Some patients require levothyroxine replacement therapy. The neurotoxicity of mitotane is a significant clinical problem.
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Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Antineoplásicos Hormonais , Mitotano , Puberdade Precoce , Humanos , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/induzido quimicamente , Mitotano/uso terapêutico , Mitotano/efeitos adversos , Feminino , Carcinoma Adrenocortical/tratamento farmacológico , Neoplasias do Córtex Suprarrenal/tratamento farmacológico , Estudos Retrospectivos , Masculino , Pré-Escolar , Antineoplásicos Hormonais/uso terapêutico , Antineoplásicos Hormonais/efeitos adversos , Lactente , Criança , Doenças do Sistema Endócrino/induzido quimicamenteRESUMO
INTRODUCTION: Adrenocortical carcinoma (ACC) is a rare malignancy in children. Because of this, each patient with suspected ACC requires individualised management, which should be determined at a meeting of a team of multidisciplinary experts in the field. AIM OF THE STUDY: To summarise data on symptoms, genetic predisposition, and diagnostic procedures for ACC in children. MATERIAL AND METHODS: Papers were searched in the PubMed database to identify published randomised clinical trials, reviews, systematic reviews, meta-analyses, and case reports. RESULTS: Most cases of ACC in children occur under the age of 5 years. The most common presenting symptom in 60-80% of paediatric patients is rapidly progressive virilisation. Diagnostics are based on laboratory and imaging evaluation. The mainstay of treatment is surgery, with laparotomy being the preferred method of surgery. Diagnosis is based on histological examination of surgically removed tissue. The Wieneke index is most commonly used in paediatric practice. However, some cases are still classified as "indeterminate histology". Predisposing genetic factors are found in most children with ACC, most commonly a mutation of the TP53 gene. CONCLUSIONS: Patients should be diagnosed in large clinical centres with experience in this field. The treatment strategy should be individualised. Genetic testing for TP53 gene mutations is indicated in patients with ACC.
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Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Humanos , Carcinoma Adrenocortical/diagnóstico , Carcinoma Adrenocortical/genética , Carcinoma Adrenocortical/terapia , Carcinoma Adrenocortical/cirurgia , Neoplasias do Córtex Suprarrenal/diagnóstico , Neoplasias do Córtex Suprarrenal/terapia , Neoplasias do Córtex Suprarrenal/genética , Neoplasias do Córtex Suprarrenal/cirurgia , Criança , Pré-Escolar , Masculino , Feminino , Lactente , Adolescente , Predisposição Genética para DoençaRESUMO
Not required for Clinical Vignette.
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Hipofisite Autoimune , Hipopituitarismo , Doenças da Hipófise , Feminino , Humanos , Adolescente , Esteroides , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: Adrenocortical carcinoma (ACC) accounts for 0.2% of childhood malignancies. The most common symptom in children is rapidly progressive androgenization. Herein, we report a case of a patient with symptoms of hypercortisolaemia and androgenization, who was diagnosed with ACC. CASE PRESENTATION: In a 10-year-old patient with ACC the course of the disease was complicated by 3 recurrences. She was treated with surgery, chemo-, and radiotherapy. Currently, 8 years after the end of treatment, there have been no signs of recurrence. CONCLUSIONS: A patient after ACC treatment requires regular check-ups and long-term observation. Constant supervision enables early diagnosis of disease recurrence, and the use of treatment improves the prognosis.
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Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Criança , Feminino , Humanos , Carcinoma Adrenocortical/diagnóstico , Carcinoma Adrenocortical/cirurgia , Neoplasias do Córtex Suprarrenal/diagnóstico , Neoplasias do Córtex Suprarrenal/cirurgia , VirilismoRESUMO
Insulinoma belongs to pancreatic neuroendocrine tumors and is immensely rare in children. The tumor leads to severe consequences of hypoglycemia caused by excessive insulin release. We report a pediatric patient with malignant insulinoma linked with liver transplantation due to metastases to this organ. A 13-year-old girl presented with symptoms of hypoglycemia due to hyperinsulinism. In computed tomography (CT), a polycyclic lesion in the head of the pancreas and enlarged lymph nodes were revealed. Modified Whipple's operation was performed, and histological examination confirmed pancreatic neuroendocrine tumor. CT of the body showed an enlarged liver with numerous metastases. Allogeneic liver transplantation was carried out successfully. Positron emission tomography-computed tomography (PET/CT) using 68Ga-DOTA-labeled somatostatin analogs at the age of 22 confirmed the complete metabolic remission. The patient currently remains under immunosuppressive and antiproliferative treatment. Multiple surgical interventions, liver transplantation combined with somatostatin analogs, and immunosuppressive medication could be effective in malignant insulinoma.
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Background: Pituitary stalk thickening (PST) is a rare abnormality in the pediatric population. Its etiology is heterogeneous. The aim of the study was to identify important clinical, radiological and endocrinological manifestations of patients with PST and follow the course of the disease. Materials and Methods: It is a study conducted in 23 patients (13 boys) with PST with/without central diabetes insipidus (CDI) diagnosed between 1990 and 2020 at Children's Memorial Health Institute (CMHI) in Warsaw, Poland. We analyzed demographic data, clinical signs and symptoms, radiological findings, tumor markers, hormonal results, treatment protocols and outcomes. Results: The median age at the diagnosis of PST was 9.68 years (IQR: 7.21-12.33). The median time from the onset of the symptoms to the diagnosis was 2.17 years (IQR: 1.12-3.54). The most common initially reported manifestations were polydipsia, polyuria and nocturia (82.6%); most of the patients (56.5%) also presented decreased growth velocity. Hormonal evaluation at the onset of PST revealed: CDI (91.3%), growth hormone deficiency (GHD) (56.5%), hyperprolactinemia (39%), central hypothyroidism (34.8%), adrenal insufficiency (9%), precocious puberty (8.7%). The majority of the patients were diagnosed with germinoma (seventeen patients - 73.9%, one of them with teratoma and germinoma). Langerhans cell histiocytosis (LCH) was identified in three patients (multisystem LCH in two patients, and unifocal LCH in one patient). A single case of atypical teratoid rhabdoid tumor, suspected low-grade glioma (LGG) and lymphocytic infundibuloneurohypophysitis (LINH). The overall survival rate during the observational period was 87.0%. Conclusions: The pituitary infundibulum presents a diagnostic imaging challenge because of its small size and protean spectrum of disease processes. Germinoma should be suspected in all children with PST, especially with CDI, even when neurological and ophthalmological symptoms are absent.
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Neoplasias Encefálicas , Diabetes Insípido Neurogênico , Germinoma , Histiocitose de Células de Langerhans , Doenças da Hipófise , Neoplasias Encefálicas/patologia , Criança , Diabetes Insípido Neurogênico/patologia , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças da Hipófise/complicações , Doenças da Hipófise/patologia , Hipófise/diagnóstico por imagem , Hipófise/patologiaRESUMO
INTRODUCTION: Pituitary stalk thickening (PST) is a rare abnormality in children, and it may be challenging due to its diverse clinical picture. AIM OF THE STUDY: The aim of the study is to summarize the data on the causes and diagnostic procedures of PST. MATERIAL AND METHODS: Papers were searched in the PubMed database identifying published randomized clinical trials, reviews, systematic reviews, meta-analyses, and case reports. RESULTS: The most common causes of a thickened pituitary stalk in children are germ cell tumours (GCTs), Langerhans cell histiocytosis (LCH), and lymphocytic infundibulo-neurohypophysitis (LINH). Neurosarcoidosis, pituitary tuberculosis, granulomatosis, or specific inflammations were only reported in the paediatric population as case studies. PST mainly affects teenagers and is often detected with brain magnetic resonance imaging (MRI) in patients with central diabetes insipidus (CDI). It is not possible to differentiate the causes of PST with the use of the MRI image alone. Although various biochemical and oncological markers and other imaging tests are used, the diagnosis of PST remains a significant diagnostic challenge for clinicians. The final diagnosis is made based on histopathological examination. The indications for a biopsy are not uniform. Most experts, including the authors of the 2021 British consensus, recommend biopsy in the case of PST with a stalk lesion diameter ≥ 6.5-7 mm. CONCLUSIONS: The differential diagnosis of PST is a challenge. The diagnostic and treatment strategy should be individually adapted. Patients should be diagnosed in large clinical centres with experience in this field.
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Diabetes Insípido Neurogênico , Histiocitose de Células de Langerhans , Doenças da Hipófise , Adolescente , Criança , Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/patologia , Hipófise/diagnóstico por imagem , Hipófise/patologiaRESUMO
Not required for Clinical Vignette.
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Abscesso Encefálico , Hipopituitarismo , Doenças da Hipófise , Abscesso Encefálico/diagnóstico por imagem , Criança , Feminino , Humanos , Hipopituitarismo/diagnóstico , Imageamento por Ressonância Magnética , Doenças da Hipófise/complicações , Doenças da Hipófise/diagnósticoRESUMO
INTRODUCTION: Psychological factors can have a significant impact on diabetes control. We aimed to evaluate the correlation between emotional intelligence and glycemic control in type one diabetes (T1D) adolescents. MATERIAL AND METHODS: This prospective study enrolled 97 consecutive children admitted to our department and aged 15 to 17 with T1D. The Emotional Intelligence Questionnaire INTE was used to measure emotional intelligence. The results were correlated with a glycemic control status, measured by current and mean (since the diagnosis of T1D, minimum four tests per year) and hemoglobin A1c (HbA1c). An additional questionnaire collected the demographic and social data. RESULTS: Our study found a significant, negative correlation between HbA1c level and the ability to utilize emotions to support thinking and actions (Factor I of the INTE questionnaire). There was no significant correlation between emotional intelligence General Score or Factor II (the ability to recognize emotions) and glycemic control. CONCLUSIONS: A higher ability to utilize emotions to support thinking and actions positively correlates with metabolic control in the adolescent population with T1D. The appropriate emotional intelligence training and better psychological care may improve the metabolic outcomes of children with T1D. This merits further study.
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Diabetes Mellitus Tipo 1 , Adolescente , Criança , Diabetes Mellitus Tipo 1/psicologia , Inteligência Emocional , Hemoglobinas Glicadas/análise , Controle Glicêmico , Humanos , Estudos ProspectivosRESUMO
MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2-weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treatment was started. After 1 year of recombinant growth hormone therapy the patient was diagnosed with diabetes. At the age of 14 years the LH-RH test showed prepubertal values. Endocrine disorders may be one of the first manifestations of MELAS syndrome. In differential diagnosis of short stature, less common causes, such as mitochondrial diseases, should be taken into consideration.
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Doenças do Sistema Endócrino , Síndrome MELAS , Acidente Vascular Cerebral , Adolescente , DNA Mitocondrial , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/diagnóstico , Feminino , Humanos , Síndrome MELAS/complicações , Síndrome MELAS/diagnóstico , Síndrome MELAS/tratamento farmacológico , MutaçãoRESUMO
INTRODUCTION: Numerous studies assessed the quality of life (QoL) of adult patients after Cushing's disease (CD) treatment. Available professional literature reveals that hypercortisolemia caused by CD may negatively impact the mood and social life. However, data on QoL of adult patients after CD treatment in childhood are scarce. Aim of the study: To study the QoL of adult patients treated for CD in childhood. MATERIAL AND METHODS: Eighteen out of 29 adult patients diagnosed in childhood with CD and/or treated at one center participated in a survey and completed WHO Quality of Life-BREF questionnaire. The influence of selected prognostic factors for the QoL has been analyzed. Patients data were compared with a control group with the same age and sex. RESULTS: Participants (10 women and 8 men) were at the mean age of 28.93 years (19.75-40.33). No significant difference in the QoL was noted between analyzed patients and controls. Patients with hypopituitarism had lower results in domain 4 in comparison with patients without hypopituitarism (p = 0.31) and lower results in domain 2 in comparison with the control group (p = 0.045). Patients with a higher age at disease onset had lower results of the QoL in domain 1 (p = 0.031). CONCLUSIONS: During long-term follow-up the QoL of patients after CD treatment in childhood is not significantly different wit QoL of healthy controls. Further studies are needed to expand the knowledge of factors that may contribute to the QoL in CD patients who were treated in childhood.
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Hipersecreção Hipofisária de ACTH , Qualidade de Vida , Adulto , Feminino , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
OBJECTIVES: To describe the case of a 12-year-old girl with a rare plurihormonal pituitary macroadenoma secreting prolactin (PRL), growth hormone (GH), thyroid-stimulating hormone (TSH), and alpha subunit (α-SU). CASE PRESENTATION: The patient experienced recurrent headaches and progressing loss of vision in one eye. During the examination, abnormalities such as tall stature, coarse facial features, enlarged feet and hands, tachycardia, hand tremor, hyperhidrosis, galactorrhea, and goiter were observed. Head magnetic resonance imaging (MRI) revealed a solid tumor in the anterior and middle cranial fossa, measuring 80 × 50 × 55 mm. A stereotactic biopsy revealed plurihormonal Pit-1 positive pituitary adenoma secreting PRL, GH, and TSH. A pituitary hyperfunction with PRL, GH, TSH, and α-SU excess was diagnosed. The patient was successfully treated pharmacologically with dopamine agonists and somatostatin analogue, and a decrease of tumor volume (30%) was achieved. CONCLUSIONS: When neurosurgery is not possible, long-term pharmacological treatment of plurihormonal pituitary macroadenoma can be a safe and relatively effective alternative.
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Adenoma/diagnóstico por imagem , Neoplasias Hipofisárias/diagnóstico por imagem , Adenoma/sangue , Adenoma/patologia , Criança , Feminino , Hormônio do Crescimento Humano/sangue , Humanos , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/sangue , Neoplasias Hipofisárias/patologia , Prolactina/sangue , Tireotropina/sangueRESUMO
Background: This study aims to analyze the diagnostic accuracy of bilateral inferior petrosal sinus sampling (BIPSS), the gold standard test for the differential diagnosis of ACTH-dependent Cushing's syndrome (CS) in a group of pediatric patients with Cushing's disease (CD). Methods: This is a retrospective analysis which include 12 patients with hypercortisolemia and inconclusive pituitary MRI, who underwent bilateral inferior petrosal sinus sampling (BIPSS) and transsphenoidal surgery (TSS) from 2004 to 2020 in the Children's Memorial Health Institute (CMHI) Warsaw, Poland. Pituitary origin of ACTH secretion was considered if baseline central to peripheral (C/P) ACTH level ratio was ≥ 2 or C/P ratio was ≥ 3 after human corticotropin-releasing hormone (hCRH) stimulation. The diagnosis was histologically confirmed in almost all cases after TSS. Results: The diagnostic accuracy of BIPSS reached 75% at baseline and 83.3% after CRH stimulation. The compatibility of localization of a microadenoma by BIPSS with the surgical location was 66.7%. Conclusions: Owing to its high diagnostic effectiveness, BIPSS remains the best test to differentiate CD from EAS. The indications for the procedure should be carefully considered, because EAS in the pediatric population, unlike in adults, is extremely rare. Moreover BIPSS has only limited value for indicating tumor localization.
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Hormônio Adrenocorticotrópico/metabolismo , Endocrinologia/métodos , Amostragem do Seio Petroso/efeitos adversos , Hipersecreção Hipofisária de ACTH/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Adenoma/diagnóstico , Adolescente , Criança , Hormônio Liberador da Corticotropina/sangue , Diagnóstico Diferencial , Sistema Endócrino , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Amostragem do Seio Petroso/métodos , Hipófise/diagnóstico por imagem , Polônia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study: To assess the effect of rGH treatment in patients with SDS. MATERIAL AND METHODS: Retrospective data were collected from patients with SDS and growth hormone deficiency (GHD) treated with rGH in the Children's Memorial Health Institute in Warsaw. The annual growth velocity (GV) and height standard deviation score (SD) were compared for up to 2 years of rGH treatment. RESULTS: Six SDS patients (M : F = 1 : 5) treated with rGH were identified. The median age of starting rGH therapy was 7.5 years, with a mean baseline height SD of -4.06 (range: -6.3 to -2.3 SD). The height SD significantly improved to -3.3 (p = 0.002) and then -3.03 (p = 0.002), following 1 and 2 years of treatment, respectively. The average GV for the patients prior to starting treatment was 4.9 cm/year (range: 3.1-6.5 cm/year), which significantly improved to 7.6 cm/year (range: 5.7-9.6 cm/year) after 1 year of rGH treatment (p = 0.020) and to 6.7 cm/year at the end of 2 years. CONCLUSIONS: Our study has shown that rGH treatment significantly improves the height SDS and GV of patients with SDS and GHD without any side effects. Further research is required to analyse the long-term effect of rGH therapy in patients with SDS.
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Hormônio do Crescimento Humano , Estatura , Criança , Feminino , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Masculino , Estudos Retrospectivos , Síndrome de Shwachman-DiamondRESUMO
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children's Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. MATERIAL AND METHODS: In the pilot study, retrospective data were collected for 5 patients with SDS. Subsequently, patients with SDS aged 3-16 years were recruited prospectively. In total, 19 patients with mutations in the SBDS gene were studied. Data were collected on anthropometric measurements, systemic screening tests of pituitary, thyroid, adrenal, pancreatic, and gonadal function, as well as bone mineral density. Descriptive statistics were tabulated and group differences assessed. RESULTS: Twelve patients (63%) had ≥ 1 endocrine disorder, including growth hormone dysfunction (10 patients, 53%), hypothyroidism (2 patients, 10%), congenital hypopituitarism (1 patient, 5%), and/or type 1 diabetes mellitus (T1DM) (1 patient, 5%). The group of boys presented with a significantly lower height (-2.1 SD, p < 0.0001) and BMI (-1.0 SD, p < 0.00001). The group of girls also showed significantly lower height (-2.6 SD, p < 0.00001) and BMI (-0.7 SD, p < 0.0001). All patients had significantly lower height than their mid-parental height. Delayed bone age was found in 15 patients (84%) and osteopaenia in 12 of 15 patients (80%). CONCLUSIONS: Endocrine dysfunctions are common in SDS, especially growth hormone (GH) deficiency. Children with poor growth can benefit from an endocrinological evaluation and tests for GH deficiency. Bone mineral density measurements should be a part of a routine screening. Longitudinal studies are needed to better understand the aetiology and true prevalence of these disorders.
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Doenças do Sistema Endócrino , Síndrome de Shwachman-Diamond , Criança , Doenças do Sistema Endócrino/complicações , Insuficiência Pancreática Exócrina , Feminino , Hormônio do Crescimento , Humanos , Masculino , Projetos Piloto , Estudos RetrospectivosRESUMO
INTRODUCTION: According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing's disease (CD). Data on the frequency of these mutations in the paediatric population are limited. The aim of the presented study was to determine the frequency of the USP8 gene mutations in a group of paediatric patients with CD treated at the Children's Memorial Health Institute (CMHI). MATERIAL AND METHODS: Eighteen patients (nine females) with CD were treated at CMHI, Warsaw, Poland between 1993 and 2019. All patients underwent transsphenoidal surgery (TSS) as a primary treatment for CD. The average age of all patients at TSS was 13.10 years (5.42-17.25). DNA was extracted from formalin-fixed paraffin-embedded resected tumour tissue. Sanger sequencing was performed on DNA sequence corresponding to the exon 14 of USP8 gene. RESULTS: The mean age at diagnosis of CD was 13.08 years, and the average duration of symptoms before diagnosis was 2.96 years. All patients were operated at CMHI by the same neurosurgeon. Fifteen out of 18 patients (83.33%) had initial biochemical remission after a single TSS procedure (post-operative serum cortisol < 1.8 µg/dL). The result of genetic testing was negative for all samples at the hotspot area of the USP8 gene. CONCLUSION: The current retrospective study demonstrates that mutations in the USP8 gene may not be as common a cause of paediatric Cushing's disease, as previously reported.
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Hipersecreção Hipofisária de ACTH , Adolescente , Criança , Endopeptidases , Complexos Endossomais de Distribuição Requeridos para Transporte , Feminino , Humanos , Hipersecreção Hipofisária de ACTH/genética , Hipersecreção Hipofisária de ACTH/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Ubiquitina Tiolesterase/genéticaRESUMO
OBJECTIVES: Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10-18% of cases of Cushing's syndrome (CS) in adults, while in children it occurs much less frequently. CASE PRESENTATION: We report two cases of neuroendocrine tumors (of the thymus and the appendix) in a 12-year-old boy and a 15-year-old girl who presented with the clinical features of CS. Elevated serum cortisol, ACTH, and chromogranin levels were observed in both patients. Diagnoses were made on the basis of a mass in the thymus/appendix region visualized with chest/abdominal CT scan and radiotracer accumulation in scintigraphy in the same areas. Histopathological examinations confirmed the diagnoses of NET. CONCLUSION: EAS is an extremely rare endocrine disorder. However, it should be taken into consideration in the diagnostic process of every case of ACTH-dependent CS.
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Hormônio Adrenocorticotrópico/metabolismo , Neoplasias do Apêndice/patologia , Tumores Neuroendócrinos/patologia , Neoplasias do Timo/patologia , Adolescente , Neoplasias do Apêndice/metabolismo , Criança , Feminino , Humanos , Masculino , Tumores Neuroendócrinos/metabolismo , Prognóstico , Neoplasias do Timo/metabolismoRESUMO
Bone age is one of biological indicators of maturity used in clinical practice and it is a very important parameter of a child's assessment, especially in paediatric endocrinology. The most widely used method of bone age assessment is by performing a hand and wrist radiograph and its analysis with Greulich-Pyle or Tanner-Whitehouse atlases, although it has been about 60 years since they were published. Due to the progress in the area of Computer-Aided Diagnosis and application of artificial intelligence in medicine, lately, numerous programs for automatic bone age assessment have been created. Most of them have been verified in clinical studies in comparison to traditional methods, showing good precision while eliminating inter- and intra-rater variability and significantly reducing the time of assessment. Additionally, there are available methods for assessment of bone age which avoid X-ray exposure, using modalities such as ultrasound or magnetic resonance imaging.
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Desenvolvimento do Adolescente , Determinação da Idade pelo Esqueleto , Desenvolvimento Infantil , Diagnóstico por Computador , Ossos da Mão/diagnóstico por imagem , Redes Neurais de Computação , Interpretação de Imagem Radiográfica Assistida por Computador , Articulação do Punho/diagnóstico por imagem , Adolescente , Fatores Etários , Automação , Criança , Pré-Escolar , Aprendizado Profundo , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Adulto JovemRESUMO
INTRODUCTION: Cushing's disease (CD) is a rare cause of hypercortisolaemia caused by excessive adrenocorticotropic hormone (ACTH) excretion by a pituitary adenoma. Data on the predictive factors for the recurrence of the disease are limited in comparison with those for the adult population. The identification of the predictive factors for CD recurrence in patients after surgical treatment in childhood was the aim of the presented study. MATERIAL AND METHODS: A retrospective analysis of 26 CD patients, mean age at the time of diagnosis 13.46 years, treated at the Children's Memorial Health Institute (CMHI) in the years 1994-2018. Two time points were set at which the follow-up (FU) of patients was finished. The first time point (shorter FU, 24 patients) was set when the patients completed their treatment at the CMHI. The second time point (longer FU, 26 patients) was determined on the basis on the time when adult patients (previous CMHI patients) completed the author's questionnaire. In the case of the other patients (current CMHI paediatric patients and patients who did not respond to the questionnaire), the latest FU in this second time point was made during the last visit to the CMHI. The predictors of disease recurrence were evaluated by the construction of a logistic regression model and receiver operating characteristics. RESULTS: The average FU after transsphenoidal pituitary surgery (TSS) of 26 patients was 10.23 years (0.67-24.50). Recurrence of CD occurred in four out of 26 patients (15.4%) after an average time of 3.6 years (0.92-8.08) following definitive treatment. The results of the statistical analysis of potential predictive factors for CD recurrence were not conclusive, with no variables confirmed above the statistical significance threshold of p < 0.05. As regards the longer FU, two potential predictors: mean cortisol level at night (p = 0.10) and max. ACTH level after ovine corticotropin-releasing hormone (oCRH) test (p = 0.10), were the closest to meeting the assumed threshold of statistical significance. CONCLUSION: Recurrence of CD may be diagnosed even a long time after its effective treatment. It is possible that cortisol levels at night and ACTH values in oCRH test before TSS may be helpful to predict which patients may experience a recurrence after successful initial treatment. However, further studies on a larger sample are needed to confirm this hypothesis.
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Hormônio Adrenocorticotrópico/sangue , Hipersecreção Hipofisária de ACTH/sangue , Hipersecreção Hipofisária de ACTH/cirurgia , Adolescente , Fatores Etários , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Hipersecreção Hipofisária de ACTH/fisiopatologia , Período Pós-Operatório , Recidiva , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Objectives The main cause of hyperandrogenism in children is congenital adrenal hyperplasia, adrenal and gonadal tumors, polycystic ovary syndrome (PCOs) and Cushing's disease. In the last 20 years several descriptions of girls with hyperandrogenism and venous porto-systemic shunts appeared in literature. Case presentation First case is an eleven and a half-year-old girl, was admitted to Department of Endocrinology because of symptoms of hyperandrogenism. Laboratory tests revealed high serum testosterone, androstenedione, and dehydroepiandrosterone sulfate (DHEAS). The ammonia concentration was also increased. In the abdominal angio-CT scans persistent umbilical vein which connected portal and femoral vein was found. The second case was a seven-year-old boy with symptoms of precocious puberty. Blood tests also revealed high concentration of testosterone, androstenedione, DHEAS and ammonia. Imaging studies showed persistent ductus venosus. Conclusion Although pathophysiological relation is not clear, porto-systemic shunts should be considered as a cause of hyperandrogenism of unknown origin in children.