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1.
Acta Biomed ; 90(3): 225-237, 2019 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-31580308

RESUMO

BACKGROUND: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. AIMS OF THE STUDY: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. RESULTS: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, treating a total of 966 male patients, aged above 18 years with ß- thalassemias (738 TDT and 228 NTDT), participated in the study. Of the 966 patients, 240 (24.8%) were married or lived with partners, and 726 (75.2%) unmarried. The mean age at marriage was 29.7 ± 0.3 years. Of 240 patients, 184 (76.6%) had children within the first two years of marriage (2.1 ± 0.1 years, median 2 years, range 1.8 - 2.3 years). The average number of children was 1.32 ± 0.06 (1.27 ± 0.07 in TDT patients and 1.47 ± 0.15 in NTDT patients; p: >0.05). Whatever the modality of conception, 184 patients (76.6%) had one or two children and 1 NTDT patient had 6 children. Nine (4.8%) births were twins. Of 184 patients, 150 (81.5%) had natural conception, 23 (12.5%) required induction of spermatogenesis with gonadotropins (hCG and hMG), 8 (4.3%) needed intracytoplasmic sperm injection (ICSI) and 3 adopted a child. 39 patients with TDT and NTDT asked for medical help as they were unable to father naturally: 7 TDT patients (17.9%) were azoospermic, 17 (37.7%) [13 with TDT and 4 with NTDT] had dysspermia and 15 (33.3%) [13 with TDT and 2 with NTDT] had other "general medical and non-medical conditions". CONCLUSIONS: Our study provides detailed information in a novel area where there are few contemporary data. Understanding the aspects of male reproductive health is important for physicians involved in the care of men with thalassemias to convey the message that prospects for fatherhood are potentially good due to progressive improvements in treatment regimens and supportive care.

2.
Acta Biomed ; 89(4): 481-489, 2019 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-30657116

RESUMO

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented.The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroidectomy was carried out. Of 202 TM patients below the age of 18 years, the  reported endocrine complications were: GHD in 4.5%, latent hypocortisolism in 4.4% and central hypothyrodisim in 0.5%. Transition phase was an area of interest for many clinicians, especially as patients with complex chronic health conditions are responding to new treatments extending their lifespan beyond imagination.. In conclusion, our survey provides a better understanding of  physicians' current clinical practices and beliefs in the detection, prevention and treatment of some endocrine complications prevailing in adult TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are recommended.

3.
Blood ; 132(22): 2362-2374, 2018 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-30254128

RESUMO

ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline biallelic mutations in ARPC1B have been recently described in 6 patients with clinical features of combined immunodeficiency (CID), whose neutrophils and platelets but not T lymphocytes were studied. We hypothesized that ARPC1B deficiency may also lead to cytoskeleton and functional defects in T cells. We have identified biallelic mutations in ARPC1B in 6 unrelated patients with early onset disease characterized by severe infections, autoimmune manifestations, and thrombocytopenia. Immunological features included T-cell lymphopenia, low numbers of naïve T cells, and hyper-immunoglobulin E. Alteration in ARPC1B protein structure led to absent/low expression by flow cytometry and confocal microscopy. This molecular defect was associated with the inability of patient-derived T cells to extend an actin-rich lamellipodia upon T-cell receptor (TCR) stimulation and to assemble an immunological synapse. ARPC1B-deficient T cells additionally displayed impaired TCR-mediated proliferation and SDF1-α-directed migration. Gene transfer of ARPC1B in patients' T cells using a lentiviral vector restored both ARPC1B expression and T-cell proliferation in vitro. In 2 of the patients, in vivo somatic reversion restored ARPC1B expression in a fraction of lymphocytes and was associated with a skewed TCR repertoire. In 1 revertant patient, memory CD8+ T cells expressing normal levels of ARPC1B displayed improved T-cell migration. Inherited ARPC1B deficiency therefore alters T-cell cytoskeletal dynamics and functions, contributing to the clinical features of CID.

4.
Acta Biomed ; 88(4): 435-444, 2018 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-29350657

RESUMO

Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice. A questionnaire was sent to all Thalassemia Centres participating to the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine (ICET-A) Network.Seventeen centers, treating a total of 3023 TM and 739 TI patients, participated to the study. HPT was reported in 206 (6.8%) TM patients and 33 (4.4%) TI patients. In general, ages ranged from 10.5 to 57 years for the TM group and from 20 to 54 years for the TI group. Of the 206 TM patients and 33 TI patients with HPT, 117 (48.9%) had a serum ferritin level >2.500 ng/ml (54.3% TM and 15.1% TI patients) at the last observation. Hypocalcemia varied in its clinical presentation from an asymptomatic biochemical abnormality to a life-threatening condition, requiring hospitalization. Calcium and vitamin D metabolites are currently the cornerstone of therapy in HPT. In TM patients, HPT was preceded or followed by other endocrine and non-endocrine complications. Growth retardation and hypogonadism were the most common complications (53.3% and 67.4%, respectively). Although endocrine complications were more common in patients with TM, non-transfused or infrequently transfused patients with TI suffered a similar spectrum of complications but at a lower rate than their regularly transfused counterparts.In conclusion, although a large international registry would help to better define the prevalence, comorbidities and best treatment of HPT, through the result of this survey we hope to give a clearer understanding of the burden of this disease and its unmet needs. HPT requires lifelong therapy with vitamin D or metabolites and is often associated with complications and comorbidities.Therefore, it is important for endocrinologists and other physicians, who care for these patients, to be aware of recent advances of this disorder.

5.
Case Rep Pediatr ; 2016: 1395718, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27478669

RESUMO

An 18-month-old boy presented with abdominal pain, vomiting, diarrhea, and poor appetite for 6 days. He had been given a multivitamin preparation once daily, containing 50.000 IU of vitamin D and 10.000 IU of vitamin A for a wide anterior fontanelle for about three months. He presented with hypercalcemia, low levels of parathyroid hormone (PTH), and very high serum 25-hydroxyvitamin D (25-OHD) levels. Renal ultrasound showed nephrocalcinosis. He did not have sign or symptom of vitamin A intoxication. Patient was successfully treated with intravenous hydration, furosemide, and prednisolone. With treatment, serum calcium returned rapidly to the normal range and serum 25-OHD levels were reduced progressively. In conclusion the diagnosis of vitamin D deficiency rickets without checking 25-OHD levels may cause redundant treatment that leads to vitamin D intoxication (VDI).

7.
Indian J Endocrinol Metab ; 18(Suppl 1): S63-71, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25538880

RESUMO

Skeletal age assessment (SAA) is a clinical procedure which is used in determining the SA of children and adolescents. Bone development is influenced by a number of factors, including nutrition, hormonal secretions, and genetics. There are several factors to be borne in mind when using methods of assessing skeletal maturity. These include: Variability among methods, degree of variability in the estimation of skeletal maturation, sources of low accuracy, and dispersion of the values of skeletal maturation. Currently, the main clinical methods for SAA are the Greulich and Pyle (GP) and Tanner and Whitehouse (TW) methods. The GP method has the advantage of being quick and easy to use. A well-trained radiologist takes few minutes to determine the bone age (BA) from a single hand radiograph. The method of TW, however, seems to be more reliable than the GP method. In recent years, the increasing speed in computer sciences and reduction of their cost has given the opportunity to create and use computerized BA estimation system. Despite the fact that the number of automated systems for BAA have increased, most are still within the experimental phase. The use of automated BA determination system, cleared for clinical use in Europe (BoneXpert), has been validated for various ethnicities and children with endocrine disorders. Ultrasound imaging has some limitations that include operator dependence, lower intra-rater and inter-rater reliability of assessment and difficulties with standardization of documentation and imaging transfer. Magnetic resonance imaging (MRI) is noninvasive alternative tool for SA assessment in children. However, few studies have been reported on this topic, and further research is needed to evaluate the reliability and validity of MRI BAAs. In conclusion, at present radiographic methods for the assessment of BA remain the gold standards. Whatever method one adopts, it is essential to minimize the causes of imprecision by taking care to consider the quality of the X-ray. Moreover, it is imperative to assume a correct hand positioning because poor positioning can change the appearance of some bones. It is also preferable to employ scoring methods to these techniques and percentiles rather than BA in years and months. In addition, the possible differences in maturation among different population should be kept in mind.

8.
Mediterr J Hematol Infect Dis ; 6(1): e2014074, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25408860

RESUMO

INTRODUCTION: IGF-1 deficiency in TM patients in children and adolescents has been attributed to chronic anemia and hypoxia, chronic liver disease, iron overload and other associated endocrinopathies, e.g. growth hormone deficiency (GHD). Few data are available in the literature regarding adult TM patients and growth disorders. The aim of this study was to measure IGF-1 values and other clinical data in a large number of adult patients with TM to evaluate the possible relationships between them. PATIENTS AND METHODS: A cohort of 120 adult patients with TM was studied for plasma levels of IGF-1. Plasma total IGF-1 was determined by chemiluminescent immunometric assay (CLIA) method. In eleven patients (3 females) the GH response during glucagon stimulation test (GST) was also evaluated. RESULTS: Fifty percent of patients (33 males and 27 females) had IGF-1 levels <- 2 SDs below normative values for healthy subjects matched for age and sex. In these patients endocrine complications and elevations of aminotransferases (ALT) were more common compared to TM patients with IGF1 > -2SDs. In multivariate regression analyses, height, weight, BMI, serum ferritin, ALT, HCV serology and left ventricular ejection fraction (LVEF) were not significantly related to IGF-1, but a significant correlation was found in females between HCV-RNA positivity and IGF-1, ALT and serum ferritin. AGHD was diagnosed in 6 (4 males) out of 11 patients (54.5%) who had glucagon stimulation tests and in 5 out of 8 (62.5%) with IGF-1 <-2SD. The mean age of patients with GHD was 39.3 years (range: 25-49 years, median: 39 years) versus 35.8 years (range: 27-45 years, median: 37.5 years) in non-GHD patients. A positive correlation between GH peak after GST and IGF-1 level was found (r: 0.6409; p: < 0.05). CONCLUSIONS: In 50% of TM patients the IGF-1 levels were 2SDs below average values for healthy individuals. IGF-1 deficiency was more common in TM patients with associated endocrine complications, and a significant correlation was found in HCV-RNA positive females among IGF-1, ALT, and serum ferritin. Further data in a larger group of patients are needed to confirm whether IGF-1 level <-2 SDs may be a potential criterion for additional studies in TM patients. This datum could avoid performing GH stimulation tests in the majority of them.

9.
J Pediatr Endocrinol Metab ; 27(9-10): 801-5, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24859503

RESUMO

Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients.


Assuntos
Doenças do Sistema Endócrino/etiologia , Doenças do Sistema Endócrino/terapia , Talassemia/complicações , Criança , Gerenciamento Clínico , Humanos , Qualidade de Vida
10.
Indian J Endocrinol Metab ; 17(1): 8-18, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23776848

RESUMO

The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient's care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET) was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.

12.
Pediatr Endocrinol Rev ; 11(2): 167-80, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24575552

RESUMO

In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia. The pathogenesis of TM-induced osteoporosis is multifactorial. Genetic and acquired factors play role in demineralization of bones in thalassemia. Osteoporosis is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. The significant predictors of fracture prevalence include male gender, hypothyroidism, age, lack of spontaneous puberty in females, active hepatitis, heart disease and diabetes. The early identification of osteopenia and osteoporosis is of paramount importance. This is because delayed diagnosis and inadequate treatment have led to severe osteoporosis, skeletal abnormalities, fractures, spinal deformities, nerve compression and growth failure. dequate hormonal replacement, has been posponed, Effective iron chelation adequate hormonal replacement, improvement of hemoglobin levels, calcium and vitamin D administration and physical activity are currently the main measures for the management of the disease. The use of bisphosphonates in TM patients with osteoporosis is increasing and their positive effect in improving bone mineral density is encouraging. The recommendations of the International Network on Growth Disorders and Endocrine Complications in Thalassaemia (I-CET) for diagnosis and management of osteoporosis in TM are also briefly included in this review.


Assuntos
Monitorização Fisiológica/métodos , Osteoporose/etiologia , Osteoporose/terapia , Talassemia beta/complicações , Talassemia beta/terapia , Adolescente , Adulto , Densidade Óssea , Criança , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Humanos , Masculino , Osteoporose/epidemiologia , Fatores de Risco , Adulto Jovem , Talassemia beta/epidemiologia
13.
J Pediatr Hematol Oncol ; 34(6): 407-11, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22584781

RESUMO

Normocytic-normochromic anemia (NC/NC) has been attributed to impaired bone marrow erythropoiesis in growth hormone (GH)-deficient patients. Moreover, the GH/insulin-like growth factor-1 (IGF-1) axis has been implicated in erythropoiesis regulation. In this retrospective multicenter study, we evaluated the incidence of NC/NC anemia in 279 children (196 boys), median age 10.52 years, with isolated idiopathic GH deficiency, and the effect of recombinant human growth hormone (rhGH) therapy on hemoglobin levels. At 6-month intervals, we recorded the Hb standard deviation score (Hb-SDS), the IGF-1-SDS, weight, height, and pubertal stage. Forty-one boys and 7 girls had NC/NC anemia before starting substitutive therapy (-2.59 SD). The Hb-SDS was significantly increased (P<0.05) after 12 months of rhGH therapy. The effect of rhGH continued up to 48 months (-0.39 SD), at which point all children had normal hemoglobin values. In conclusion, rhGH therapy resulted in normal hemoglobin values in all children enrolled in the study. These data support the concept that the GH/IGF-1 axis promotes erythropoiesis in vivo.


Assuntos
Anemia/terapia , Índices de Eritrócitos/efeitos dos fármacos , Transtornos do Crescimento/complicações , Hemoglobinas/metabolismo , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Adolescente , Anemia/etiologia , Biomarcadores/metabolismo , Criança , Pré-Escolar , Eritropoese , Feminino , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Prognóstico , Estudos Retrospectivos
14.
Pediatr Endocrinol Rev ; 8 Suppl 2: 290-4, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21705980

RESUMO

In patients with b-thalassemia major (TM), the anterior pituitary gland is particularly sensitive to free radical stresses. It has been reported that the GH deficiency (GHD) may be secondary to either pituitary or hypothalamic dysfunction. The duration of the disease, the patient's age and the severity of iron overload are the most important factors responsible for the defect of growth hormone (GH) secretion. Recent reports have documented a frequency of severe growth hormone deficiency in 13%-32% of patients with b-thalassemia major. All of these patients underwent GH-releasing hormone (GH-RH) plus arginine (ARG) testing. We undertook the present study to evaluate the GH and adrenal response during glucagon stimulation test (GST) in patients with TM because the GH-RH plus ARG test in patients with hypothalamic GHD may be misleading. Thirty-three adult TM patients were recruited (mean age 36.6 years). Fifty four percent were included in the severe GHD group (GH peak below 3mg/l). The IGF-1 level in TM patients was consistently low (60.3 ± 35.3 mg/l) and 86.6% of patients with a normal GH response to GST had a low IGF-1 level. These findings are also indicative of a relative resistance to GH. In eight out of 18 TM patients (44.4%), the GHD was associated with hypogonadotropic hypogonadism. A positive correlation was found between GH peak after GST and IGF-1 level (r = 0.8, p: 0.003) and a negative correlation between the age of female TM patients and GH peak (r = 0.711, p: 0.007). All patients but one had no evidence of cardiac iron overload (mean T2* 30.4 ± 8.2 ms; range 14-44 ms). The mean LVEF (%) in TM patients was no different when compared to healthy controls. However, three patients with severe GHD and normal T2*were found to have reduced LVEF.One patient (4%) had a peak cortisol response to GST compatible to adrenal insufficiency. Nausea, headache and\or hypoglycemia occurred in 3 patients (12%) during GST. In conclusion, our study demonstrates that the presence of GHD is frequent in adult TM patients. According to the international guidelines for medical practice, we believe that before considering hormone replacement therapy, a second test to confirm the diagnosis of GHD and adrenal insufficiency is required.


Assuntos
Glucagon , Hormônio do Crescimento Humano/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Síndrome de Laron , Volume Sistólico/fisiologia , Talassemia beta , Adolescente , Glândulas Suprarrenais/efeitos dos fármacos , Glândulas Suprarrenais/metabolismo , Adulto , Comorbidade , Técnicas de Diagnóstico Endócrino , Feminino , Fármacos Gastrointestinais/administração & dosagem , Glucagon/administração & dosagem , Hormônio do Crescimento Humano/deficiência , Humanos , Fator de Crescimento Insulin-Like I/biossíntese , Síndrome de Laron/diagnóstico , Síndrome de Laron/epidemiologia , Síndrome de Laron/metabolismo , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/metabolismo
15.
Pediatr Endocrinol Rev ; 8 Suppl 2: 310-3, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21705984

RESUMO

Seminal parameters were evaluated in 16 fully mature patients with thalassemia intermedia. Their ages ranged from 19 to 54 years (mean age 27 yrs) and serum ferritin levels varied from 205 to 3400 ng/ml. Eleven patients (68.7 %) had normal seminal parameters, 1 (1.6 %) had oligospermia, 3 (18.7 %) had asthenospermia and 1 (1.6 %) had oligoasthenospermia. A significant positive correlation was observed between the serum ferritin and ALT and serum ferritin and ?-GT (r: 0.636, p: 0.007; r: 0.497, p: 0.048, respectively), ALT and ?-GT (r: 0.749, p: 0.001) and total sperm concentration and serum folate (r: 0.572, p: 0.02). Despite some limitations, our study has useful clinical implications for the treatment of patients with thalassemia intermedia.


Assuntos
Astenozoospermia/etiologia , Deficiência de Ácido Fólico/complicações , Ácido Fólico/sangue , Oligospermia/etiologia , Talassemia beta/complicações , Adulto , Astenozoospermia/metabolismo , Ferritinas/sangue , Deficiência de Ácido Fólico/metabolismo , Humanos , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/metabolismo , Masculino , Pessoa de Meia-Idade , Oligospermia/metabolismo , Sêmen/metabolismo , Adulto Jovem , Talassemia beta/metabolismo
16.
Acta Biomed ; 80(3): 286-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20578425

RESUMO

Aim of this paper is to report about a 35-year old man suffering from beta-Thalassemia major and longstanding untreated hypogonadotropic hypogonadism, who was referred because of a recent onset and painful bilateral gynecomastia, with no palpable testicular masses. Due to the finding of a solid mass at left testis ultrasonography, monolateral testicular exeresis was performed and histology revealed a Leydig Cell Tumour and testicular microlithiasis. Post-surgical restoration of testosterone/estradiol ratio under testosterone therapy was followed by a very rapid reduction of gynecomastia. Our report confirms the usefulness of scrotal ultrasonography for finding an occult testicular tumour in a patient with painful and recent onset bilateral gynecomastia and underlines: a) the important role of testosterone/estradiol ratio in the pathophysiology of gynecomastia; b) the questionable significance of testicular microlithiasis as marker of testis tumours; c) the possible association between beta-Thalassemia and tumoral pathologies.


Assuntos
Ginecomastia/etiologia , Tumor de Células de Leydig/diagnóstico , Neoplasias Testiculares/diagnóstico , Adulto , Ginecomastia/epidemiologia , Ginecomastia/fisiopatologia , Heptanoatos/uso terapêutico , Humanos , Hipogonadismo/tratamento farmacológico , Hipogonadismo/epidemiologia , Tumor de Células de Leydig/complicações , Tumor de Células de Leydig/diagnóstico por imagem , Litíase/epidemiologia , Masculino , Doenças Testiculares/epidemiologia , Neoplasias Testiculares/complicações , Neoplasias Testiculares/diagnóstico por imagem , Ultrassonografia , Talassemia beta/epidemiologia
19.
Pediatr Endocrinol Rev ; 6 Suppl 1: 140-3, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19337168

RESUMO

Extramedullary haematopoiesis (EH) refers to the production of blood cells outside the bone marrow as a compensatory mechanism for bone marrow dysfunction. It occurs in conditions with hyperactive, depleted or infiltrated marrow. The most frequent cause of EH is thalassaemia intermedia, due to increased demand on the hematopoietic system from anemia not reduced by transfusion therapy. The usual localizations are adjacent to bone. We report three unusual cases and discuss the current treatment.


Assuntos
Hematopoese Extramedular/fisiologia , Talassemia beta/patologia , Adulto , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Talassemia beta/sangue , Talassemia beta/terapia
20.
Eur J Pediatr ; 167(9): 1083-4, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17992539

RESUMO

This report describes two boys who were evaluated for the first time at the ages of 9.8 (patient 1) and 13.4 years (patient 2), due to either prepubertal or pubertal gynecomastia. The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. In both boys, gynecomastia completely regressed 5-8 months after the institution of glucocorticoid substitutive treatment. We conclude that it is mandatory to suspect NC 21-OH-D in the clinical evaluation of either prepubertal or pubertal gynecomastia, since this association might be more frequent than reported so far, and that it is important that diagnosis is made by the first months after gynecomastia development, since a longstanding gynecomastia is unlikely to respond completely to medical therapy.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Ginecomastia/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/genética , Criança , Ginecomastia/tratamento farmacológico , Ginecomastia/enzimologia , Humanos , Hidrocortisona/uso terapêutico , Masculino
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