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1.
Clin Endocrinol (Oxf) ; 100(1): 19-28, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37814958

RESUMO

OBJECTIVE: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases. DESIGN: National, multicenter and retrospective study. PATIENTS: All centres were asked to complete a form including questions regarding initial complaints, physical examination findings, diagnostic tests, treatment modalities and follow-up data of the children with CD between December 2015 and March 2017. MEASUREMENTS: Diagnostic tests of CD and tumour size. RESULTS: Thirty-four patients (M:F = 16:18) from 15 tertiary centres were enroled. The most frequent complaint and physical examination finding were rapid weight gain, and round face with plethora, respectively. Late-night serum cortisol level was the most sensitive test for the diagnosis of hypercortisolism and morning adrenocorticotropic hormone (ACTH) level to demonstrate the pituitary origin (100% and 96.8%, respectively). Adenoma was detected on magnetic resonance imaging (MRI) in 70.5% of the patients. Transsphenoidal adenomectomy (TSA) was the most preferred treatment (78.1%). At follow-up, 6 (24%) of the patients who underwent TSA were reoperated due to recurrence or surgical failure. CONCLUSIONS: Herein, national data of the clinical experience on paediatric CD have been presented. Our findings highlight that presenting complaints may be subtle in children, the sensitivities of the diagnostic tests are very variable and require a careful interpretation, and MRI fails to detect adenoma in approximately one-third of cases. Finally, clinicians should be aware of the recurrence of the disease during the follow-up after surgery.


Assuntos
Adenoma , Hipersecreção Hipofisária de ACTH , Neoplasias Hipofisárias , Adulto , Humanos , Criança , Hipersecreção Hipofisária de ACTH/diagnóstico , Hipersecreção Hipofisária de ACTH/cirurgia , Neoplasias Hipofisárias/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Adenoma/patologia , Hidrocortisona
2.
J Trop Pediatr ; 70(2)2024 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-38339873

RESUMO

BACKGROUND: This study compared the effectiveness of the traditional and revised one-bag protocols for pediatric diabetic ketoacidosis (DKA) management. METHODS: This single-center retrospective cohort study included children diagnosed with DKA upon admission between 2012 and 2019. Our institution reevaluated and streamlined the traditional one-bag protocol (revised one-bag protocol). The revised one-bag protocol rehydrated all pediatric DKA patients with dextrose (5 g/100 ml) containing 0.45% NaCl at a rate of 3500 ml/m2 per 24 h after the first 1 h bolus of normal saline, regardless of age or degree of dehydration. This study examined acidosis recovery times and the frequency of healthcare provider interventions to maintain stable blood glucose levels. RESULTS: The revised one-bag protocol demonstrated a significantly shorter time to acidosis recovery than the traditional protocol (12.67 and 18.20 h, respectively; p < 0.001). The revised protocol group required fewer interventions for blood glucose control, with an average of 0.25 dextrose concentration change orders per patient, compared to 1.42 in the traditional protocol group (p < 0.001). Insulin rate adjustments were fewer in the revised protocol group, averaging 0.52 changes per patient, vs. 2.32 changes in the traditional protocol group (p < 0.001). CONCLUSION: The revised one-bag protocol for pediatric DKA is both practical and effective. This modified DKA management achieved acidosis recovery more quickly and reduced blood glucose fluctuations compared with the traditional one-bag protocol. Future studies, including randomized controlled trials, should assess the safety and effectiveness of the revised protocol in a broad range of pediatric patients with DKA.


Assuntos
Cetoacidose Diabética , Humanos , Criança , Cetoacidose Diabética/terapia , Cetoacidose Diabética/diagnóstico , Glicemia , Estudos Retrospectivos , Hidratação/métodos , Insulina/uso terapêutico
3.
Diabetes Obes Metab ; 25(7): 1950-1963, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36946378

RESUMO

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.


Assuntos
Diabetes Mellitus , Hipertrigliceridemia , Lipodistrofia Generalizada Congênita , Lipodistrofia , Infarto do Miocárdio , Insuficiência Renal Crônica , Feminino , Humanos , Turquia/epidemiologia , Estudos de Coortes , Infarto do Miocárdio/complicações , Insuficiência Renal Crônica/complicações , Estimativa de Kaplan-Meier , Hipertrigliceridemia/complicações
4.
Clin Endocrinol (Oxf) ; 89(1): 65-75, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29722904

RESUMO

OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multicentre study, prospective follow-up data were collected from 103 subjects with non-HIV-associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR). Kidney volume was measured. Percutaneous renal biopsies were performed in 9 patients. RESULTS: Seventeen of 37 patients with generalized and 29 of 66 patients with partial lipodystrophy had CKD characterized by proteinuria, of those 12 progressed to renal failure subsequently. The onset of renal complications was significantly earlier in patients with generalized lipodystrophy. Patients with CKD were older and more insulin resistant and had worse metabolic control. Increased kidney volume was associated with poor metabolic control and suppressed leptin levels. Renal biopsies revealed thickening of glomerular basal membranes, mesangial matrix abnormalities, podocyte injury, focal segmental sclerosis, ischaemic changes and tubular abnormalities at various levels. Lipid vacuoles were visualized in electron microscopy images. CONCLUSIONS: CKD is conspicuously frequent in patients with lipodystrophy which has an early onset. Renal involvement appears multifactorial. While poorly controlled diabetes caused by severe insulin resistance may drive the disease in some cases, inherent underlying genetic defects may also lead to cell autonomous mechanisms contributory to the pathogenesis of kidney disease.


Assuntos
Nefropatias/etiologia , Lipodistrofia/complicações , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Lactente , Resistência à Insulina/fisiologia , Rim/patologia , Nefropatias/fisiopatologia , Lipodistrofia/fisiopatologia , Lipodistrofia Parcial Familiar/complicações , Lipodistrofia Parcial Familiar/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
5.
Am J Med Genet A ; 170A(4): 942-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26788866

RESUMO

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.


Assuntos
Cariótipo Anormal , Antropometria , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Fenótipo , Adulto Jovem
7.
Pediatr Int ; 57(5): 875-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25916248

RESUMO

BACKGROUND: The aim of this retrospective study was to investigate pheochromocytoma (pheo), which is a rare endocrine tumor in the pediatric population. METHODS: The medical records of five children with pheo were studied. The age, gender, clinical presentation, family history, physical findings, coexisting pathology, laboratory evaluation, surgical treatment, and postoperative course were investigated. RESULTS: The patients were four girls and one boy with a mean age of 13.2 years (range, 9.57-15.95 years). None of the patients had paroxysmal hypertension and one had normal blood pressure. No malign pheo was identified. Mean height and weight standard deviation scores (SDS), body mass index (BMI), and BMI SDS were -0.24, 0.04, 20.9 kg/m(2), and 0.20 at the time of diagnosis, and 0.03, 0.43, 23.8 kg/m(2) and 0.49 1 year after operation, respectively. BMI increased significantly after operation. Three patients had normal epinephrine and metanephrine, but elevated norepinephrine and normetanephrine on 24 h urine. Vanillylmandelic acid on 24 h urine sample was elevated in all patients. Ultrasonography failed to visualize tumors in two patients with bilateral pheo. One patient had postoperative severe hypotension. Insulin resistance associated with severe acanthosis nigricans observed in one patient regressed postoperatively. CONCLUSIONS: Pheo in children may present with different symptoms and findings. Decreased catecholamine in the postoperative period may lead to weight gain.


Assuntos
Neoplasias das Glândulas Suprarrenais/epidemiologia , Feocromocitoma/epidemiologia , Centros de Atenção Terciária/estatística & dados numéricos , Adolescente , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia , Criança , Feminino , Humanos , Incidência , Imageamento por Ressonância Magnética , Masculino , Feocromocitoma/diagnóstico , Feocromocitoma/cirurgia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Tomografia Computadorizada por Raios X , Turquia/epidemiologia
8.
Pediatr Neurosurg ; 50(3): 128-32, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25997786

RESUMO

AIM: To evaluate the clinical outcome in a 13-year consecutive series of children operated for pituitary adenomas with transnasal transsphenoidal surgery. METHODS: All patients <18 years who were operated on at our center by transsphenoidal surgery for pediatric pituitary adenomas were included in the study. Clinical features, hormonal profile, radiology, surgical approach, results and complications were analyzed. RESULTS: Eighteen patients (90%) had functional pituitary adenomas and 2 (10%) patients had nonfunctional pituitary adenoma. The most common type was prolactin-secreting adenoma (n = 12), followed by corticotropinoma (n = 4), growth hormone-secreting adenoma (n = 2), and nonfunctioning adenoma (n = 2). Prolactin-secreting adenomas in children occurred more commonly with suprasellar expansion than did other adenomas. CONCLUSION: Transsphenoidal surgery was effective for decompression of suprasellar extension and relieved the chiasmal compression immediately. Prolactin-secreting tumors required postoperative medical therapy for persistently elevated prolactin levels.


Assuntos
Adenoma/cirurgia , Cavidade Nasal/cirurgia , Procedimentos Neurocirúrgicos/métodos , Neoplasias Hipofisárias/cirurgia , Seio Esfenoidal/cirurgia , Adenoma/diagnóstico , Adolescente , Criança , Feminino , Seguimentos , Humanos , Masculino , Neoplasias Hipofisárias/diagnóstico , Estudos Retrospectivos
9.
Artigo em Inglês | MEDLINE | ID: mdl-38488050

RESUMO

Recombinant growth hormone (GH) is administered as daily subcutaneous injections. Daily treatment can be challenging for children/adolescents as well as for parents and/or caregivers (legal representatives, guardians of children in institutional care). Challenges associated with daily treatment may result in missing several doses and non-adherence with treatment leads to inadequate growth response. As an inadequate growth response does not meet criteria for continuing treatment, payers (commercial or public) may decide to end reimbursement. Novel long-acting GH formulations (LAGH) with extended half-life can be administered less frequently and target to improve patient convenience and consequently to improve adherence and responses to treatment. LAGH formulations can restore growth velocity and body composition as effectively as daily treatment, without unexpected adverse effects as reported in randomized clinical trials.

10.
Artigo em Inglês | MEDLINE | ID: mdl-38488049

RESUMO

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Materials and Methods: This was a multicenter survey study that was sent to pediatric endocrinologists in pandemic period (June 2021-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, and missed dose data and the causes in the recent year (after the onset of the pandemic) were queried. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% nonadherence). Results: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and "others" (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 mcg/kg, the annual growth rate was 1.15 SDS (min -2.74, max 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for nonadherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Nonadherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as nonadherence rate increased. Conclusion: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.

11.
J Clin Res Pediatr Endocrinol ; 15(1): 97-102, 2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-34382758

RESUMO

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.

12.
J Clin Res Pediatr Endocrinol ; 15(1): 103-107, 2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-34477356

RESUMO

Persistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, information regarding its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medical treatments. The infant's hypoglycemic episodes were successfully controlled by adding maltodextrin to his diet.


Assuntos
Hiperinsulinismo Congênito , Hiperinsulinismo , Lactente , Humanos , Masculino , Pancreatectomia , Hiperinsulinismo/congênito , Hiperinsulinismo/cirurgia , Hiperinsulinismo Congênito/cirurgia , Polissacarídeos/uso terapêutico
13.
J Clin Res Pediatr Endocrinol ; 15(3): 285-292, 2023 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-37074225

RESUMO

Objective: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems in 22q11.2 DS may include cardiac abnormalities, immune dysfunction, facial dysmorphism, with endocrine, genitourinary and gastrointestinal problems, and developmental delay. The aim of this study was to evaluate and present all endocrinological findings of patients with 22q11.2 DS from a single center. Methods: All participants had confirmed 22q11.2 DS by fluorescence in situ hybridization with hypoparathyroidism. Data were retrieved by retrospective review of patient records. Results: A total of 17 patients were reviewed. On physical examination, all patients had similar dysmorphic features. The median age at diagnosis was 45 days (1 day-13 years). Most cases (64.7%, 11/17) were diagnosed with hypoparathyroidism incidentally after routine tests. At the time of diagnosis, mean calcium was 7.04±0.80 mg/dL, phosphorus was 6.2±1.1 mg/dL, and median parathyroid hormone (PTH) was 11.5 (3.7-47.6) ng/L. Transient hypoparathyroidism was detected in five cases (29.4%). There was no significant difference between patients with permanent or transient hypoparathyroidism regarding gender, age at diagnosis, calcium, phosphorus, and PTH levels. However, vitamin D levels were significantly lower in the transient group (p=0.036). During follow-up, short stature, obesity, and type 2 diabetes mellitus were absent. Thyroid autoantibodies were detected in two patients with normal thyroid function tests. Despite there being no pathological short stature, final stature was shorter than the general population (mean height standard deviation score: -0.94±0.83). Conclusion: Hypocalcemia may be detected during acute illness in some cases where hypocalcemia appears at later ages. There was no significant difference between permanent and transient hypoparathyroidism cases in terms of PTH level. Recognition of the more specific facial findings is important to trigger investigation of genetic variants, additional anomalies, and for follow-up.


Assuntos
Síndrome de DiGeorge , Diabetes Mellitus Tipo 2 , Nanismo , Hipocalcemia , Hipoparatireoidismo , Humanos , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Hipocalcemia/diagnóstico , Hipocalcemia/genética , Cálcio , Hibridização in Situ Fluorescente , Diabetes Mellitus Tipo 2/genética , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/complicações , Hormônio Paratireóideo , Nanismo/genética , Deleção Cromossômica , Fósforo
14.
Jt Dis Relat Surg ; 34(3): 620-627, 2023 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-37750267

RESUMO

OBJECTIVES: The aim of this study was to evaluate the bending strength of plate-screw fixation augmented with titanium elastic nails (TENs) in a simple long bone fracture model using lamb cadaver femurs. MATERIALS AND METHODS: A total of 24 lamb cadaveric femurs that were osteotomized transversely from the mid-diaphysis with a bone saw were used to obtain a simple fracture model. The femurs were divided randomly into three groups. In Group 1, only plate-screw was used for fixation. In Group 2, plate-screw fixation was augmented with a 2.5-mm TEN. In Group 3, plate-screw fixation was augmented with two 2.5-mm TENs. Each bone model was positioned on a mechanical testing machine. Subsequently, three-point bending loads were applied to each bone to measure the force required for failure at the osteotomy site. The data were recorded on a computer connected to the test device and the bending strengths of all samples were calculated. RESULTS: There was no statistically significant difference in the bending strength (megapascals) between Groups 1 and 2 or between Groups 2 and 3 (p>0.05). However, the bending strength in Group 3 was significantly higher than in Group 1 (p<0.05). CONCLUSION: The application of intramedullary TEN during surgery in long bone fractures, combined with a bridge plate, may be helpful to strengthen the fixation stability.


Assuntos
Placas Ósseas , Parafusos Ósseos , Ovinos , Animais , Humanos , Diáfises , Osteotomia , Cadáver , Titânio
15.
J Pediatr Endocrinol Metab ; 25(5-6): 419-26, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876533

RESUMO

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyroidism (CHNG) in consanguineous or multi-case families. Here we report the results of the second part (n=105) of our large cohort (n=244), representing the largest such cohort in the literature, and interpret the overall results of the whole cohort. Additionally, 50 sporadic cases with thyroid dysgenesis and 400 unaffected control subjects were included in the study. In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing. In addition, in silico analyses of the predicted structural effects of TSHR mutations were performed and related to the mutation specific disease phenotype. We detected eight new TSHR mutations and a PAX8 mutation but no mutations in TSHB and NKX2-5. None of the biallelic TSHR mutations detected in familial cases were present in the cohort of 50 sporadic cases. Genotype/phenotype relationships were established between TSHR mutations and resulting clinical presentations. Here we conclude that TSHR mutations are the main detectable cause of autosomal recessively inherited thyroid dysgenesis. We also outline a new genetic testing strategy for the investigation of suspected autosomal recessive non-goitrous CH.


Assuntos
Hipotireoidismo Congênito/genética , Receptores da Tireotropina/genética , Disgenesia da Tireoide/genética , Adolescente , Adulto , Criança , Pré-Escolar , Dimerização , Feminino , Genes Recessivos/genética , Estudos de Associação Genética , Humanos , Masculino , Repetições de Microssatélites/genética , Mutação Puntual/genética , Estrutura Secundária de Proteína , Estrutura Terciária de Proteína , Receptores da Tireotropina/química , Adulto Jovem
16.
J Pediatr Endocrinol Metab ; 35(5): 611-616, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35334193

RESUMO

BACKGROUND: Unlike in Western countries, the use of diabetes technologies has been limited in Turkey, or at least until the last few years. This low adoption frequency may be attributed to the lack of experience of pediatric diabetes teams in working with new technologies. The aim of this study is to evaluate the attitudes, experiences and self-efficacies of pediatric endocrinology fellows and attending physicians in terms of use of continuous subcutaneous insulin infusion (CSII) therapy and continuous glucose monitoring (CGM) systems. METHODS: The questionnaire used in this study consisted of 63 questions including 10 questions evaluating the demographic characteristics and experience of the participants, 33 Likert-type questions related to self-competency, 17 yes/no questions and 3 open-ended questions which evaluated attitudes towards our study area. This questionnaire was e-mailed to pediatric endocrinology fellows and attending physicians working in Turkey. RESULTS: A total of 24 fellows and 28 attending physicians working in the field of pediatric endocrinology participated in the survey. Of the respondents, 61% reported that there was no formal training curriculum regarding diabetes technology at their institutions. The mean scores obtained from the Likert scale questions measuring self-competency in using CSII and CGM were 3.8 and 3.3 out of 5, respectively. Of the respondents, 55% judged themselves to be under-skilled in interpreting pump reports while 39% of the respondents reported themselves as being under-skilled in interpreting CGM reports. CONCLUSIONS: While it is true that training programs for using diabetes technology have been established by the National Pediatric Endocrinology Association in Turkey, the development of a specific curriculum for institutions that provide pediatric endocrinology fellowship training in this framework will increase the self-confidence of pediatric endocrinologists in this matter and this will ultimately contribute to the improvement of the metabolic control of children with diabetes.


Assuntos
Diabetes Mellitus , Médicos , Atitude , Glicemia/metabolismo , Automonitorização da Glicemia , Criança , Diabetes Mellitus/terapia , Humanos , Insulina , Turquia
17.
Ir J Med Sci ; 191(3): 985-990, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34100191

RESUMO

BACKGROUND: The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. METHODS: We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. RESULTS: A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. CONCLUSION: The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use.


Assuntos
COVID-19 , Telemedicina , Instituições de Assistência Ambulatorial , Criança , Humanos , Pandemias , Telemedicina/métodos
18.
J Pediatr Endocrinol Metab ; 35(11): 1394-1400, 2022 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-36136319

RESUMO

OBJECTIVES: To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies. METHODS: Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied. RESULTS: The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up. CONCLUSIONS: Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.


Assuntos
Hipopituitarismo , Doenças da Hipófise , Prolactina , Adolescente , Criança , Feminino , Humanos , Masculino , Hipopituitarismo/patologia , Doenças da Hipófise/patologia , Hipófise/patologia , Prolactina/sangue , Síndrome , Recém-Nascido , Lactente , Pré-Escolar
19.
Diabetol Int ; 12(4): 412-419, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34567924

RESUMO

To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended the Pediatric Endocrinology Polyclinic and were diagnosed with type 1 DM were included in the study. Tanner staging was used to estimate pubertal status. Age- and gender-specific body mass index (BMI) percentile between 85 and 95% was accepted as overweight and > 95% as obese. It was determined that the overweight prevalence rates in children and adolescents with type 1 DM were 13.3% and the obesity rate was 14.3%. It was found that while the overweight prevalence rates (14.1%) were higher in males, the obesity prevalence was higher in females (19.0%). The obesity prevalence rates at the prepubertal and pubertal stages were found to be 17.1% and 13.8%, respectively. The obesity prevalence at the pubertal stage was higher in girls (22.4%) than boys (3.9%) (p < 0.05). The rates both of overweight and obesity in boys decreased from prepubertal to pubertal periods, while those rates increased in girls. Our results indicated that the obesity prevalence in prepubertal and pubertal children and adolescents with type 1 DM was higher compared to healthy peers in the literature. The authors believe that the risk factors for obesity in this population should be determined and obesity-prevention programs for diabetes should be prepared.

20.
Clin Pediatr Endocrinol ; 30(1): 41-47, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33446951

RESUMO

The present study aimed to evaluate choroidal changes and alternations within the structure of the retina prior to visible morphologic signs of diabetic retinopathy (DR) in pediatric type 1 diabetes (T1D) cases. Two hundred and six eyes of 103 pediatric patients with T1D without DR and 88 eyes of 44 healthy controls were enrolled. They underwent a comprehensive ophthalmic examination and optical coherence tomography evaluation. Choroidal thickness (ChT) measurements were performed manually on macular and peripapillary regions. There was no significant difference between the two groups in terms of age, intraocular pressure, and axial length (p > 0.05). ChT measurements of subfoveal, nasal, and temporal macula were slightly thinner in the diabetic group, and no statistical significance was found (p = 0.835, p = 0.305, and p = 0.054, respectively). Peripapillary ChT of eight sectors were also thinner in T1D; however, superonasal, nasal, inferonasal, and inferior sector values were significantly different (p = 0.010, p = 0.020, p = 0.019, and p = 0.018, respectively). In conclusion; this study demonstrated evidence of peripapillary choroidal thinning in pediatric diabetic patients without visible signs of retinopathy.

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