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1.
Endocrine ; 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38587785

RESUMEN

BACKGROUND AND AIMS: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide. METHODS: The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers. RESULTS: Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients. CONCLUSION: Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.

2.
J Clin Endocrinol Metab ; 108(10): e1013-e1026, 2023 09 18.
Artículo en Inglés | MEDLINE | ID: mdl-37186260

RESUMEN

CONTEXT: The aims of the study are to compare characteristics of subacute thyroiditis (SAT) related to different etiologies, and to identify predictors of recurrence of SAT and incident hypothyroidism. METHODS: This nationwide, multicenter, retrospective cohort study included 53 endocrinology centers in Turkey. The study participants were divided into either COVID-19-related SAT (Cov-SAT), SARS-CoV-2 vaccine-related SAT (Vac-SAT), or control SAT (Cont-SAT) groups. RESULTS: Of the 811 patients, 258 (31.8%) were included in the Vac-SAT group, 98 (12.1%) in the Cov-SAT group, and 455 (56.1%) in the Cont-SAT group. No difference was found between the groups with regard to laboratory and imaging findings. SAT etiology was not an independent predictor of recurrence or hypothyroidism. In the entire cohort, steroid therapy requirement and younger age were statistically significant predictors for SAT recurrence. C-reactive protein measured during SAT onset, female sex, absence of antithyroid peroxidase (TPO) positivity, and absence of steroid therapy were statistically significant predictors of incident (early) hypothyroidism, irrespective of SAT etiology. On the other hand, probable predictors of established hypothyroidism differed from that of incident hypothyroidism. CONCLUSION: Since there is no difference in terms of follow-up parameters and outcomes, COVID-19- and SARS-CoV-2 vaccine-related SAT can be treated and followed up like classic SATs. Recurrence was determined by younger age and steroid therapy requirement. Steroid therapy independently predicts incident hypothyroidism that may sometimes be transient in overall SAT and is also associated with a lower risk of established hypothyroidism.


Asunto(s)
COVID-19 , Hipotiroidismo , Tiroiditis Subaguda , Humanos , Femenino , Tiroiditis Subaguda/epidemiología , Tiroiditis Subaguda/etiología , COVID-19/complicaciones , COVID-19/epidemiología , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Estudios Retrospectivos , SARS-CoV-2 , Hipotiroidismo/etiología , Hipotiroidismo/complicaciones , Esteroides
3.
Minerva Endocrinol (Torino) ; 48(1): 12-18, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-33269571

RESUMEN

BACKGROUND: Postoperative hypoparathyroidism (PO-HypoPT) is a complication usually seen after thyroid surgery. PO-HypoPT, which lasts longer than 6 months is defined permanently. The aim of this study was to evaluate how close permanent PO-HypoPT patients can approach target values. METHODS: One hundred seven patients who were followed-up with permanent diagnosis of PO-HypoPT between 2016-2020 were included in the study. The study protocol includes serum albumin corrected total calcium (Alb-sCa), phosphate (P), Ca-P product, and 24 h urine calcium measurements. Laboratory measurements of the patients include the values recorded in 4-year visits and in the last visit. In addition, radiological reports of renal/abdominal ultrasound and cranial tomography examinations performed in our hospital for any reason during this period were also reviewed. RESULTS: When looking at the total measurements in the 4-year period, the Alb-sCa level was below the target in most of the measurements (68.1%). P level was higher than normal in 296 (46.2%) measurements. Twenty-four h urine ca excretion was measured 185 times in total visits, and 81 (43.7%) of these measurements showed hypercalciuric values. The patient's latest visit measurements were evaluated on 4 targets (Alb-sCa, P, Ca-P product and 24 h urine Ca excretion). The number of patients meeting all four targets was only 21 (19.6%). Six (7.5%) patients had kidney stones or nephrocalcinosis. Three (0.09%) patients with imaging had calcification in the basal ganglia. CONCLUSIONS: Our study shows that the management of the patients with PO-HypoPT is suboptimal with active vitamin D and cholecalciferol treatment.


Asunto(s)
Hipoparatiroidismo , Cálculos Renales , Nefrocalcinosis , Humanos , Calcio/uso terapéutico , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/tratamiento farmacológico , Hipoparatiroidismo/etiología , Cálculos Renales/complicaciones , Riñón , Nefrocalcinosis/complicaciones
4.
Turk J Med Sci ; 52(2): 338-345, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36161625

RESUMEN

BACKGROUND: Increased bone turnover is a hallmark of hyperthyroidism. The underlying factors of how thyroid hormones affect bone cells are still under the spotlight. Previous studies indicated serum osteoprotegerin (OPG), receptor activator of NF-kB ligand (RANKL), and interleukin-6 (IL-6) as mediators of the effect of thyroid hormones on bone metabolism. Ultimately, the present research aimed to examine the association of IL-6 with OPG and RANKL in patients with hyperthyroidism. METHODS: We carried out this study with 39 newly diagnosed and untreated Graves' patients and 43 healthy controls. In addition to routine tests, we measured serum OPG, RANKL, and IL-6 levels. RESULTS: Mean age and sex distribution were similar in both groups. The hyperthyroid group had significantly higher OPG (p = 0.002) and IL-6 (p < 0.001) levels, but RANKL levels were significantly lower in this group (p < 0.001). We found OPG not to correlate with free T4 and T3, while it had a moderate and negative correlation with thyrotropin (TSH) (r = -0.372, p = 0.001). IL-6 had no correlation with OPG but positively correlated with free T4 (r = 0.445, p < 0.001) and free T3 (r = 0.326, p = 0.035). It also negatively correlated with RANKL (r = -0.247, p = 0.033). DISCUSSION: Maintaining skeletal development and integrity is partially regulated by a normal balance of thyroid hormones. We concluded that increases in serum OPG and IL-6 levels accompanied hyperthyroidism. However, excessive levels of the hormones might cause drops in serum RANKL levels. Our results suggested that OPG, RANKL, and IL-6 might be involved in the cross-talking among immunity, thyroid function, and bone metabolism in the case of hyperthyroidism.


Asunto(s)
Enfermedad de Graves , Hipertiroidismo , Hormonas , Humanos , Interleucina-6 , Ligandos , FN-kappa B , Osteoprotegerina , Ligando RANK , Hormonas Tiroideas , Tirotropina
5.
Calcif Tissue Int ; 110(2): 204-214, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34495356

RESUMEN

Hypoparathyroidism is an orphan disease with ill-defined epidemiology that is subject to geographic variability. We conducted this study to assess the demographics, etiologic distribution, treatment patterns and complication frequency of patients with chronic hypoparathyroidism in Turkey. This is a retrospective, cross-sectional database study, with collaboration of 30 endocrinology centers located in 20 cities across seven geographical regions of Turkey. A total of 830 adults (mean age 49.6 ± 13.5 years; female 81.2%) with hypoparathyroidism (mean duration 9.7 ± 9.0 years) were included in the final analysis. Hypoparathyroidism was predominantly surgery-induced (n = 686, 82.6%). The insulting surgeries was carried out mostly due to benign causes in postsurgical group (SG) (n = 504, 73.5%) while patients in nonsurgical group (NSG) was most frequently classified as idiopathic (n = 103, 71.5%). The treatment was highly dependent on calcium salts (n = 771, 92.9%), calcitriol (n = 786, 94.7%) and to a lower extent cholecalciferol use (n = 635, 76.5%) while the rate of parathyroid hormone (n = 2, 0.2%) use was low. Serum calcium levels were most frequently kept in the normal range (sCa 8.5-10.5 mg/dL, n = 383, 46.1%) which might be higher than desired for this patient group. NSG had a lower mean plasma PTH concentration (6.42 ± 5.53 vs. 9.09 ± 7.08 ng/l, p < 0.0001), higher daily intake of elementary calcium (2038 ± 1214 vs. 1846 ± 1355 mg/day, p = 0.0193) and calcitriol (0.78 ± 0.39 vs. 0.69 ± 0.38 mcg/day, p = 0.0057), a higher rate of chronic renal disease (9.7% vs. 3.6%, p = 0.0017), epilepsy (6.3% vs. 1.6%, p = 0.0009), intracranial calcifications (11.8% vs. 7.3%, p < 0.0001) and cataracts (22.2% vs. 13.7%, p = 0.0096) compared to SG. In conclusion, postsurgical hypoparathyroidism is the dominant etiology of hypoparathyroidism in Turkey while the nonsurgical patients have a higher disease burden with greater need for medications and increased risk of complications than the postsurgical patients.


Asunto(s)
Hipocalcemia , Hipoparatiroidismo , Adulto , Calcio , Femenino , Humanos , Hipoparatiroidismo/epidemiología , Persona de Mediana Edad , Hormona Paratiroidea , Estudios Retrospectivos , Turquía/epidemiología
6.
Turk J Med Sci ; 49(6): 1687-1692, 2019 12 16.
Artículo en Inglés | MEDLINE | ID: mdl-31655515

RESUMEN

Background/aim: The most common causes of thyrotoxicosis include Graves' disease (GD), toxic multinodular goiter (TMNG), toxic adenoma (TA), and subacute granulomatous thyroiditis (SAT). In our study, we aimed to see whether neutrophil­to­lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet­to­lymphocyte ratio (PLR), and mean platelet volume (MPV) may be helpful in the differential diagnosis of these diseases. Materials and methods: We retrospectively analyzed the hospital records of the Endocrinology Clinic of our hospital between 2016 and 2019. We included data from 66 GD, 37 TA, and 35 SAT patients. We compared the data with those of 35 healthy subjects as controls. Results: NLR, MLR, and PLR were found to be higher in the SAT group when compared to other groups. The post hoc analysis of comparison of NLR, MLR, and PLR in each group showed that NLR and PLR were significantly different in the SAT group when compared to the GD, TA, and controls groups (P < 0.001, P = 0.003, and P < 0.001 for NLR respectively and P < 0.001 for PLR in all groups). MPV levels were different between groups (P = 0.007). However, the intergroup analysis (Tukey's test) failed to show a statistically significant difference for any of the groups. In patients with SAT, PLR and NLR were significantly higher than in the GD, TA, and control groups. MLR was also higher in SAT when compared to other groups, but the difference was not statistically significant. Conclusion: High PLR and NLR may be helpful to differentiate SAT from GD and TA, the other common causes of thyrotoxicosis.


Asunto(s)
Recuento de Linfocitos , Monocitos , Neutrófilos , Recuento de Plaquetas , Tirotoxicosis/sangre , Adulto , Estudios de Casos y Controles , Diagnóstico Diferencial , Femenino , Bocio/sangre , Bocio/diagnóstico , Bocio/inmunología , Enfermedad de Graves/sangre , Enfermedad de Graves/diagnóstico , Enfermedad de Graves/inmunología , Humanos , Masculino , Volúmen Plaquetario Medio , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias de la Tiroides/sangre , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/inmunología , Tiroiditis Subaguda/sangre , Tiroiditis Subaguda/diagnóstico , Tiroiditis Subaguda/inmunología , Tirotoxicosis/diagnóstico , Tirotoxicosis/inmunología
7.
J Clin Endocrinol Metab ; 104(7): 2527-2534, 2019 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-30848825

RESUMEN

CONTEXT: Dopamine agonist (DA)-induced impulse control disorder (ICD) in patients with prolactinomas is not sufficiently known. OBJECTIVE: To evaluate the prevalence of DA-induced ICDs and possible risk factors related to these disorders in patients with prolactinoma. DESIGN, SETTING, AND PARTICIPANTS: This is a cross-sectional multicenter study involving 308 patients with prolactinoma followed up in tertiary referral centers who received at least three months of DA therapy. DA-induced ICDs (pathological gambling, hypersexuality, compulsive shopping, and compulsive eating) and impulsivity were assessed using the Questionnaire for Impulsive-Compulsive Disorders in Parkinson Disease and the Barratt Impulsiveness Scale-11, respectively. Patients were evaluated in terms of parameters related to ICD development. RESULTS: Any ICD prevalence was 17% (n = 51). Hypersexuality was most common (6.5%). Although any ICD and hypersexuality were more common in male patients (P = 0.009, P < 0.001, respectively), compulsive eating was more common in female patients (P = 0.046). Current smoking, alcohol use, and gambling history were more frequent (P = 0.033, P = 0.002, P = 0.008, respectively) in patients with any ICD. In Barratt Impulsiveness Scale-11 total, attentional, motor, and nonplanning scores were higher in patients with any ICD (P < 0.001). Current smoking and alcohol use were more frequent (P = 0.007, P = 0.003, respectively) and percentage increase of testosterone levels at last visit was higher (P = 0.021) in male patients with prolactinomas with hypersexuality. CONCLUSION: Any ICD may be seen in one of six patients with prolactinoma who are receiving DA therapy. Endocrinology specialists should be aware of this side effect, particularly in male patients with a history of gambling, smoking, or alcohol use.


Asunto(s)
Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Agonistas de Dopamina/efectos adversos , Neoplasias Hipofisarias/tratamiento farmacológico , Prolactinoma/tratamiento farmacológico , Adolescente , Adulto , Anciano , Estudios Transversales , Trastornos Disruptivos, del Control de Impulso y de la Conducta/inducido químicamente , Trastornos Disruptivos, del Control de Impulso y de la Conducta/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Factores de Riesgo , Encuestas y Cuestionarios/estadística & datos numéricos , Adulto Joven
8.
Bone ; 123: 153-158, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30914275

RESUMEN

Brachydactyly type E, which can be an isolated finding or part of a syndrome in combination with other clinical anomalies, involves metacarpals and metatarsals with or without short phalanges. Herein we report two unrelated Turkish females who presented with brachydactyly type E and vitamin D deficiency in the absence of marked alterations in serum calcium, phosphate, and parathyroid hormone. After excluding disease-causing variants in two candidate genes, PTHLH and PDE4D, we identified different pathogenic variants in TRPS1, the gene mutated in patients with tricho-rhino-phalangeal syndrome (TRPS). In one of the patients, who displayed severe brachydactyly and short stature, we identified a novel heterozygous missense pathogenic variant in exon 6 (c.2783A>G, p.Tyr928Cys), located within the GATA DNA-binding domain. The second patient, who had relatively milder brachydactyly and was of normal height, carried a heterozygous nonsense pathogenic variant in exon 4 (c. 1870C>T, p.Arg624Ter), which has been previously described. Both pathogenic variants segregated in affected family members. The patients additionally showed sparse hair and a bulbous nose, consistent with the clinical features of TRPS. Our findings, in addition to identifying the genetic cause of brachydactyly in two unrelated kindreds, emphasize the role of pathogenic TRPS1 variants in the development of brachydactyly type E and highlight the GATA DNA-binding region of TRPS1 protein with respect to phenotype-genotype correlation.


Asunto(s)
Braquidactilia/genética , Proteínas de Unión al ADN/genética , Enanismo/genética , Factores de Transcripción GATA/genética , Variación Genética/genética , Proteínas Represoras/genética , Adolescente , Adulto , Braquidactilia/diagnóstico por imagen , Enanismo/diagnóstico por imagen , Femenino , Humanos , Linaje , Índice de Severidad de la Enfermedad
9.
Wounds ; 31(4): 91-96, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30802208

RESUMEN

OBJECTIVE: This study evaluates the effects of topical and systemic N-acetyl cysteine (NAC) treatment on wound healing in a diabetic rat model. MATERIALS AND METHODS: A total of 48 male Wistar Albino rats were randomly divided into 4 groups of 12. Diabetes was induced with an intraperitoneal injection of 60 mg/kg streptozotocin. A 2-cm x 1-cm full-thickness wound was created on the back of each animal. In group 1 (control) and group 3 (systemic NAC), the wounds were closed with 0.9% sodium chloride-treated sterile gauze. In group 2 (topical NAC) and group 4 (topical + systemic NAC), the wounds were closed with sterile gauze treated with 3 mL (300 mg) of NAC. The animals in groups 3 and 4 were administered 200 mg/kg of NAC once daily through an orogastric tube. On days 1 and 14, the wounded areas were measured. Tissue and blood samples were taken on day 14 for histopathological and biochemical examination. RESULTS: On day 14, the wounded area in groups 2, 3, and 4 was found to be smaller than in group 1 (control). Histopathologically, epithelialization and fibrosis scores were significantly lower, whereas the inflammation score was higher in group 1 than in the other groups. Tissue oxidative stress parameters (malondialdehyde, fluorescent oxidation products, total oxidative stress) were higher in the control group than in the other groups. In groups 3 and 4 (which received systemic NAC), the oxidative stress parameters in serum samples were lower than those of the control group and group 2. Serum sulphydryl levels were the lowest in group 1. CONCLUSIONS: The results of this study show that both topical and systemic administration of NAC improved wound healing in a diabetic rat model. This effect of NAC may be related to its antioxidant properties since a reduction in oxidative stress parameters in both tissue and serum were shown in the present study.


Asunto(s)
Dermis Acelular , Trasplante de Piel/métodos , Úlcera Varicosa/patología , Úlcera Varicosa/terapia , Tratamiento Conservador , Desbridamiento , Supervivencia de Injerto , Humanos , Proyectos Piloto , Trasplante Autólogo , Resultado del Tratamiento , Úlcera Varicosa/fisiopatología , Cicatrización de Heridas
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