18 results on '"Koca, Serkan Bilge"'
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2. Minipuberty period of children with atopic dermatitis compared to healthy children
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KOCA, Serkan Bilge, primary, GÜNGÖR, Hatice Eke, additional, and CANSEVER, Murat, additional
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- 2024
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3. Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
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Koca, Serkan Bilge, primary, Kulali, Melike Ataseven, additional, Güğüş, Başak, additional, and Demirbilek, Hüseyin, additional
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- 2024
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4. Change in the Frequency of Diabetic Ketoacidosis in Children with Newly Diagnosed Type 1 Diabetes in the Central Anatolia Region of Turkey over the Years Before and After the Coronavirus Disease 2019 Pandemic: A Single-Center Experience.
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Koca, Serkan Bilge, Takcı, Mehmet Zahit, Deniz, Recep, Özcan, Serhan, Çeleğen, Mehmet, and Dursun, Adem
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GLYCOSYLATED hemoglobin , *LENGTH of stay in hospitals , *KRUSKAL-Wallis Test , *ACADEMIC medical centers , *IMMUNOGLOBULINS , *CROSS-sectional method , *TYPE 1 diabetes , *PEDIATRICS , *MANN Whitney U Test , *FISHER exact test , *SEVERITY of illness index , *INSULIN , *COMPARATIVE studies , *T-test (Statistics) , *HOSPITAL care , *SYMPTOMS , *ENZYMES , *TRANSFERASES , *DESCRIPTIVE statistics , *GLOBULINS , *DATA analysis software , *COVID-19 pandemic , *DIABETIC acidosis , *C-peptide , *DISEASE risk factors , *DISEASE complications , *EVALUATION , *CHILDREN - Abstract
Objective: The number of admissions for severe diabetic ketoacidosis (DKA) in children with newly diagnosed type 1 diabetes (T1D) increased during the coronavirus disease 2019 pandemic. We aimed to investigate whether there has been a change in this situation in recent years. Materials and Methods: All children with T1D who were diagnosed in our tertiary hospital between 2019 and 2023 were included. Plasma insulin, C-peptide, hemoglobin A1c (HbA1c), and antibodies against thyroid peroxidase, thyroglobulin, insulin, islet cell, glutamic acid decarboxylase, tissue transglutaminase IgA, and endomysium IgA were measured. Results: The frequency of moderate–severe acidosis at admission, which increased after pandemic period compared to the pre-pandemic period, returns to its previous levels over time but still shows a statistical difference compared to the pre-pandemic period (P = .012). Age, blood gas pH and HCO3 level, C-peptide, HbA1c, and length of stay of children at the time of admission were compared year by year (years 2019-2023). No statistical differences were observed (P = .509, P = .181, P = .069, P = .469, P = .346, P = .946), respectively. A significant difference was observed in venous glucose (P < .001) and insulin (P = .001) according to years. Also, no significant difference was found about the degree of acidosis according to age (P = .334). Conclusion: Although the frequency of DKA in children with newly-diagnosed T1D increased in the first years of the pandemic, it has been decreasing over the years toward pre-pandemic levels. The frequency of DKA is still higher than the pre-pandemic period. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Predictive values of Mallampati score, tonsillar size, and BMI z-score in the presence and severity of obstructive sleep apnea in pediatric population.
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KAÇAR BAYRAM, Ayşe, PAKETÇİ, Ahu, ŞAHBAZ, Melek Nur, DAŞDELEN, Sevde, and KOCA, Serkan Bilge
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TONSILLITIS ,SLEEP apnea syndromes ,CHILD patients ,ODDS ratio - Abstract
Background/aim: Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder in children. Determination of risk factors for the development of OSA is essential for early diagnosis and treatment of the disease and decreases the risk of negative consequences. This study aimed to investigate the predictive values of Mallampati score, tonsillar size, and BMI z-score in the presence and severity of OSA in children. Materials and methods: This prospective cross-sectional study included 114 children with OSA symptoms. All children were assessed by BMI z-score, Mallampati score, and tonsillar size and underwent overnight polysomnography. They were consecutively selected and assigned to 4 groups as follows: Group 1 included normal-weight with a low Mallampati score; Group 2 involved normal-weight with a high Mallampati score; Group 3 included obese with a low Mallampati score; and Group 4 involved obese with a high Mallampati score. Results: Of the 114 included children, 58 were female and 56 were male, with a mean age of 13.1 ± 2.9 years. OSA frequency and apnea-hypopnea index were significantly higher in group 4 compared with other groups (p = 0.003 and p < 0.0001, respectively), whereas average and minimum spO
2 were significantly lower (for both, p = 0.001). Mallampati score and BMI z-score were found to be significant for predicting OSA (odds ratio = 4.147, 95% CI: 1.440-11.944; p = 0.008 and odds ratio = 1.760, 95% CI: 1.039-2.980; p = 0.035, respectively). Among OSA patients, the Mallampati score, tonsillar size, and BMI z-score were found to be significant for predicting OSA severity (odds ratio = 4.520, 95% CI: 1.332-15.335, p = 0.015, odds ratio = 9.177, 95% CI: 2.513-33.514, p = 0.001, and odds ratio = 2.820, 95% CI: 1.444-5.508; p = 0.002, respectively). Conclusion: The coexistence of the Mallampati score and BMI z-score significantly increases the presence of OSA in children. Mallampati score, tonsillar size, and BMI z-score are promising parameters for predicting OSA severity. [ABSTRACT FROM AUTHOR]- Published
- 2024
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6. Determination of bone age and evaluating the applicability of Greulich-Pyle standards among the Turkish children
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ÖZGÜL, Esra, YÜCEL, Aylin, KAYA, Furkan, KOCA, Serkan Bilge, and ERTEKİN, Ayşe
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Radyoloji, Nükleer Tıp, Tıbbi Görüntüleme ,Radiology, Nuclear Medicine, Medical Imaging ,Bone age,Greulich-Pyle,Chronogical age,Wrist and hand,Skeletal maturation - Abstract
Background/Aim: Bone age (BA) is important in the diagnosis and follow-up of pediatric growth disorders. Skeletal maturation can vary according to the geographical region and climate. The goal of this study is to investigate whether Greulich-Pyle (GP) method is suitable for detecting BA for Turkish children for all age groups and both genders.Methods: In our retrospective cohort study, the roentgenograms of all pediatric patients who visited the pediatrics or pediatric endocrinology outpatient clinics and underwent left hand and wrist radiographs for suspicious trauma or BA determination were examined with reference to the GP atlas. Patients without evidence of chronic disease or growth disorders with body size and weight values between the 25th-75th percentile were included. Poor quality roentgenograms were excluded.Results: Radiographs of 665 patients were analyzed and 310 (161 boys and 149 girls, age range 13-203 months) patients were included. The rate of concordant BA with CA was significantly higher in the children above 120 months of age and low BA was significantly higher among the children aged 120 months or below (P
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- 2022
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7. Factors Affecting Thyroid Elastography in Healthy Children and Patients with Hashimoto’s Thyroiditis
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Koca, Serkan Bilge, primary and Seber, Turgut, additional
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- 2023
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8. Cinacalcet therapy in a child with novel homozygous casr p.glu353lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature
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Koca, Serkan Bilge, primary
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- 2023
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9. Yenidoğan hipoglisemisine güncel yaklaşım
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KOCA, Serkan Bilge, ALTINTAŞ, Ayşe Halime, DUBA, Büşra, and Altıntaş, Ayşe Halime
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Neonatology ,Hypoglycemia ,Newborn ,Health Care Sciences and Services ,Neonataloji ,Geography, Planning and Development ,Yenidoğan ,Sağlık Bilimleri ve Hizmetleri ,Development ,Hipoglisemi - Abstract
Neonatal hipoglisemi yenidoğan döneminde sık görülen, yaşamın ilerleyen dönemlerini de etkileyen bir sağlık sorunudur. Hipoglisemi akut ve kronik komplikasyonlara neden olarak yenidoğan bebeğin büyümesi ve gelişmesinde kalıcı ve geri dönüşümsüz nörolojik sorunlara yol açabilmektedir. Hipoglisemiyi saptamak için en duyarlı test halen plazma glukozu ile ölçümü olsa da, yıllardır kullanılan geleneksel glukoz ölçüm yöntemleri ile birlikte son yıllarda noninvaziv glukoz ölçüm yöntemlerindeki gelişmeler ile riskli bebeklerde hipogliseminin tanı ve tedavisinde bu teknolojik ölçüm yöntemleri yaygın kullanılmaya başlamıştır. Glukometre, kan gazı analizatörleri, laboratuvarda enzimatik ölçüm geleneksel ölçüm yöntemleri iken, sürekli glukoz ölçüm sistemleri yeni nesil glukoz ölçümünde yer almaya başlayan yeni bir tekniktir. Hipoglisemi gelişimini engellemek için koruyucu önlemler alırken erken dönemde anne sütü ile emzirme desteği sağlanmalı ve teşvik edilmelidir. Hangi durumların hipoglisemi için risk oluşturduğu, hangi glukoz eşik değerinde tedavi vermek gerektiği ve son kullanılan yeni nesil glukoz ölçüm yöntemlerinin etkileri ve güncel tedaviler bu derlemede tartışılmıştır. Riskli bebeklerde kan şekeri ölçümleri ve klinik bulguların gözlenmesi yanında hipoglisemide ayırıcı tanı yapılarak tedavinin yönetilmesi de prognozda önemli bir yer tutar., Neonatal hypoglycemia is a common health problem, observed in the neonatal period that affects the later stages of life. Hypoglycemia can lead to acute and chronic complications, leading to permanent and irreversible neurological problems in the growth and development of the newborn. Although the most sensitive test to detect hypoglycemia is still measurement with plasma glucose, noninvasive glucose measurement methods have been widely used in the diagnosis and treatment of hypoglycemia in risky babies with the advances of these technological measurement methods in recent years, along with the traditional glucose measurement methods used for years. While glucometers, blood gas analyzers, enzymatic measurement in the laboratory are traditional measurement methods, continuous glucose measurement systems are a technique that has started to take place in the new generation glucose measurement. While taking protective precautions to prevent the development of hypoglycemia, early breastfeeding support should be provided and encouraged. Which conditions pose a risk for hypoglycemia, at which glucose threshold value should be given treatment, and the effects of the new generation glucose measurement methods and current treatments are discussed in this review. In addition to blood glucose measurements and observation of clinical signs in risky babies, differential diagnosis and management of treatment in hypoglycemia also play an important role in prognosis.
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- 2022
10. The Effectiveness of Thyroid Elastography in Evaluating Thyroiditis in Children with Type 1 Diabetes.
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Koca, Serkan Bilge and Seber, Turgut
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AUTOIMMUNE thyroiditis , *THYROID gland function tests , *REFERENCE values , *GLYCOSYLATED hemoglobin , *KRUSKAL-Wallis Test , *STATISTICS , *PREDICTIVE tests , *TYPE 1 diabetes , *CASE-control method , *MANN Whitney U Test , *FISHER exact test , *PEARSON correlation (Statistics) , *DESCRIPTIVE statistics , *RADIATION doses , *CHI-squared test , *DATA analysis software , *DATA analysis , *THYROID gland , *CHILDREN - Abstract
Objective: Shear wave elastography can detect inflammation and fibrosis in the thyroid tissue. It can be used to evaluate Hashimoto's thyroiditis or in the assessment of thyroid diseases accompanying type 1 diabetes mellitus. Our aim was to examine whether there is a difference between the shear wave elastography scores as kilopascals of individuals with type 1 diabetes mellitus and healthy children, and the relationship between diabetes-related parameters and shear wave elastography scores. Materials and Methods: A total of 77 type 1 diabetes mellitus children and 53 healthy controls were compared. Serum thyroid-stimulating hormone, free thyroxine, free tri-iodothyronine, antibodies against thyroid peroxidase and thyroglobulin, average of the last 2 control plasma glycosylated hemoglobin A1c, duration of diabetes and daily insulin dose in diabetic individuals, thyroiditis staging by ultrasound, and shear wave elastography scores were also recorded. Results: In terms of shear wave elastography scores, no significant difference was found between the healthy control group and the group with type 1 diabetes mellitus without Hashimoto's thyroiditis (7.9 ± 2.8 kPa vs. 8.4 ± 3.3 kPa, P = .772). The score of the group with type 1 diabetes mellitus accompanied by Hashimoto's thyroiditis (15.1 ± 6.6 kPa) was found to be higher than the group with type 1 diabetes mellitus without Hashimoto's thyroiditis and the healthy control group (P = .022 and P = .015, respectively). Conclusions: This is the first study to compare children with type 1 diabetes mellitus and healthy controls in terms of shear wave elastography scores. We found that there was no significant difference between the shear wave elastography scores of children with type 1 diabetes mellitus without Hashimoto's thyroiditis compared to healthy controls. [ABSTRACT FROM AUTHOR]
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- 2023
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11. Differences Between Chronological Age and Height Age in Goiter Interpretation.
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Koca, Serkan Bilge, Seber, Turgut, Paketçi, Ahu, and Özdemir, Kürşad
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AGE , *GOITER , *BODY surface area , *BODY mass index , *THYROID hormones - Abstract
Objective: Some factors (age, weight, height, body mass index, body surface area, puberty stage, and iodine nutrition status) may affect thyroid volume (TV). We aimed to investigate the differences between chronological age and height age in interpreting goiter. Materials and Methods: The thyroid ultrasonography records of 420 children aged 1--18 years were evaluated. We searched the difference between the interpretations of goiter by recalculating the TV standard deviation score (SDS) in terms of both chronological ages and corrected for height age. We also evaluated those with negative thyroid autoantibodies and normal thyroid hormone levels by subgroup analysis. The evaluation of TV according to chronological age and height age and the change of goiter interpretation were compared with the McNemar test. Results: A total of 180 children who had euthyroid and negative thyroid autoantibodies were analyzed. A weak correlation was detected between TV and age (r=0.29, p<0.001), body weight (r=0.35, p<0.001), height (r=0.32, p<0.001), height age (r=0.32, p<0.001), body weight SDS (r=0.20, p=0.008) and height SDS (r=0.21, p=0.005). When the changes of goiter interpretation were compared, a statistically significant difference was determined in the whole group (p=0.029); however, there was no significant difference in children who were both euthyroid and found to have negative thyroid auto-antibodies (p=0.375). Conclusion: We observed that the interpretation of goiter changed according to chronological age and height age if thyroid hormone level and/or thyroid autoantibody positivity were included. [ABSTRACT FROM AUTHOR]
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- 2023
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12. The Relationship Between Internet Usage Style and Internet Addiction and Food Addiction in Obese Children Compared to Healthy Children.
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Koca, Serkan Bilge, Paketçi, Ahu, and Büyükyılmaz, Gönül
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INTERNET addiction , *ADDICTIONS , *COMPULSIVE eating , *CHILDHOOD obesity , *SOCIAL media , *DESCRIPTIVE statistics , *QUESTIONNAIRES , *TECHNOLOGY , *DATA analysis software ,RISK factors - Abstract
Objective: The frequency of using the internet and social media increases in childhood, which leads to a decrease in physical activity. We aimed to investigate the effects of such technological applications on the internet and food addiction in obese and nonobese children. Materials and Methods: A total of 180 obese and 180 nonobese children were included in this study. Turkish version of the Parent-Child Internet Addiction Scale and Dimensional Yale Food Addiction Scale Version 2.0 for Children were applied. Results: The frequency of internet addiction in the sample was 1.7%. The mean internet addiction scores of males were found to be significantly higher than females (34.9 ± 20.6, 26 ± 17.2; P < .001). Children, who used the internet for information and homework had significantly lower internet addiction scores and food addiction scores, respectively (P = .002, P = .009). Watching movies, TV series, or sports events (P < .001, P = .009); following food recipes, campaigns, or advertisements (P = .04, P < .001); and eating snacks in front of the screen (P < .001, P < .001) were found to cause higher internet addiction scores and food addiction scores. It was observed that body mass index showed a positive and significant correlation with internet addiction scores and food addiction scores. Conclusions: Internet addiction and social media applications were found to be significantly related. Considering the relationship between body mass index and addiction, the effect of internet usage style and internet addiction and food addiction on obesity is striking. [ABSTRACT FROM AUTHOR]
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- 2023
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13. Differences between chronological age and height age in goiter interpretation
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Koca, Serkan Bilge, primary
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- 2022
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14. RE: Comment On: Change in the Frequency of Diabetic Ketoacidosis in Children with Newly Diagnosed Type 1 Diabetes in the Central Anatolia Region of Türkiye Over the Years Before and After the Coronavirus Disease 2019 Pandemic: A Single-Center Experience.
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Koca, Serkan Bilge, Takcı, Mehmet Zahit, Deniz, Recep, Özcan, Serhan, Çeleğen, Mehmet, and Dursun, Adem
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TYPE 1 diabetes , *ACADEMIC medical centers , *DIABETIC acidosis , *SEVERITY of illness index , *PEDIATRICS , *COVID-19 pandemic , *DISEASE risk factors , *DISEASE complications , *CHILDREN - Published
- 2024
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15. Evaluation of Demographic and Clinical Features of Patients with Down Syndrome: Single Center Experience
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ACAR, Mehtap, ZORLU, Pelin, TOS, Tülay, KOCA, Serkan Bilge, and ŞENEL, Saliha
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Çocuk,Demografik özellikler,Down sendromu ,Child,demografic featuresDown syndrome - Abstract
Amaç: Down Sendromu; dismorfik bulgular ve mental retardasyona ek olarak pek çok malformasyon ve hastalığın eşlik edebildiği en sık görülen kromozom anomalisidir. Bu çalışmada, Down Sendromlu hastaların sosyodemografik, klinik özelliklerinin saptanması ve bulguların literatür eşliğinde tartışılması amaçlanmıştır.Gereç ve Yöntemler: 2011-2013 Ocak tarihleri arasında Pediatri ve Genetik bölümlerinde takip edilen, Down sendromlu 100 hastanın değerlendirildiği tanımlayıcı bir çalışmadır.Bulgular: Bu çalışmaya 100 hasta dahil edildi (Yaş ortalaması 33.4±5.06 ay). Annelerin yaş ortalaması etkilenen çocuk doğduğunda 29.9±6.7 yıldı. Annelerin çoğunluğu (%74) çocuk doğduğunda 35 yaş altındaydı. Hastaların 85’inde (%85) eşlik eden hastalık saptandı. Bunlar; başlıca konjenital kalp hastalıkları (%47) olmak üzere hipotiroidi (%14), işitme kaybı (%8), myopi (%6), inmemiş testis (%3), hidronefroz (%2), epilepsi (%2), intestinal obstrüksiyon (%1), pes ekinovarus (%1), ve subependimal kist (%1)’di.Sonuç: Çalışmamızda %95 hastada serbest trizomi saptanmış olmasına rağmen annelerin çoğunluğunun Down sendromlu çocuğu doğduğunda 35 yaş altındaydı. Bu, Down sendromu için genetik veya çevresel başka risk faktörlerinin de olduğuna işaret edebilir. Down sendromu çok çeşitli konjenital malformasyonlar ve hastalıklarla birliktelik gösterebilir. Çocuk hekimlerinin Down Sendromuna eşlik edebilecek hastalıkları bilmesi ve izlemesi hastaların yaşam kalitesinin artmasında oldukça önemlidir., Aim: Down Syndrome is the most common chromosomal abnormality and is accompanied by many malformations and disorders in addition to the dysmorphic features and mental retardation. The aim of this study was to determine the sociodemographic and clinical characteristics of patients with Down syndrome and to discuss the findings with the literature.Material and Methods: This is a descriptive study of 100 patients with Down syndrome followed by Pediatrics and Genetics departments between January 2011 and 2013.Results: A total of 100 patients were included in this study (mean age, 33.4± 5.06 months). The mean maternal age at birth of the affected child was 29.9±6.7 years (range: 13.1 - 46.9 years). The majority of the mothers (74%) were under 35 years old at the birth of the affected child. Concomitant diseases were present in 85% of the patients and included congenital heart diseases (47%), hypothyroidism (14%), hearing loss (8v), myopia (6%), undescended testis (3%), hydronephrosis (x2%), epilepsy (2%), intestinal obstruction (1v), pes equinovarus (1%), and subependymal cysts (1v). Conclusion: Although 95% of our patients had free trisomy, the majority of the mothers were under the age of 35 when the child was born with Down syndrome. This may point to another genetic or environmental risk factors for Down syndrome. Down syndrome may be associated with a wide variety of congenital malformations and disorders. It is very important for pediatricians to be aware of and to monitor these problems that may accompany Down syndrome to improve the quality of life of the patients
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- 2014
16. Infantile onset glycogen storage disease type 2: Case report
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Koca, Serkan Bilge, Polat, Emine, Bayram, Bahtışen, Ürel, Gizem, Şenel, Saliha, and Okur, İlyas
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Süt çocukluğu ,Infancy ,Pompe disease,infancy,hypotonia ,Pompe disease ,Pompe hastalığı ,Hypotonia ,Hipotoni ,Pompe hastalığı,süt çocukluğu,hipotoni - Abstract
Glikojen depo hastalığı tip 2 Pompe hastalığı hipotoni ve kas güçsüzlüğü ile seyreden otozomal resesif geçişli fatal bir glikojen depo hastalığıdır. Lizozomal asit alfa-glikozidaz asit maltaz enziminin eksikliğinin ilerleyici jeneralize miyopati, kardiyomiyopati ve solunum kasları güçsüzlüğü nedeniyle erken süt çocukluğu döneminde ölüme yol açtığı bilinmektedir. Hastalığın patogenezinde hücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Bu yazıda 3,5 aylık pnömoni ve hipotoninin yol açtığı solunum yetmezliği ile başvuran, daha sonra Pompe hastalığı tanısı alan hasta sunuldu, Glycogen storage disease type 2 Pompe’s disease is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase acid maltase leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease
17. Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.
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Büyükyılmaz G, Çavdarlı B, Koca SB, Toksoy Adıgüzel K, Topaloğlu O, Aydın C, Hepsen S, Çakal E, Semerci Gündüz N, Boyraz M, Gürbüz F, and Demirbilek H
- Abstract
Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ., Methods: Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed., Results: 50 patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of 8 different heterozygous pathogenic/likely pathogenic missense variants (3 novel) were detected in the THRB gene in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, 7 patients had various symptoms. Seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in 7 adult patients, two adult patients were being followed with papillary thyroid cancer. One child patient had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one., Conclusion: The present study, provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the THRB gene variant database with 3 novel variants. Although most patients with RTHβ are asymptomatic, molecular genetics analysis of the THRB gene and regular follow-up for potential concurrent autoimmune diseases and thyroid cancer is warranted.
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- 2024
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18. Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.
- Author
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Koca SB, Kulali MA, Göğüş B, and Demirbilek H
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- Child, Female, Humans, Antigens, CD, Mothers, Mutation genetics, Receptor, Insulin genetics, Acanthosis Nigricans genetics, Diabetes Mellitus genetics, Insulin Resistance genetics
- Abstract
Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother.The index case was a 12-year-old girl without obesity who presented with excessive hair growth, especially in the chest and back area, and hyperpigmentation on the back of the neck (acanthosis nigricans). Acanthosis nigricans was first observed at the age of 11 years. On physical examination, the patient had acanthosis nigricans and hypertrichosis with no acne. Systolic and diastolic blood pressure measurement was within the normal range for age and sex. Laboratory tests revealed fasting hyperglycemia, fasting and postprandial hyperinsulinemia, elevated HbA1c level, and biochemical hyperandrogenemia. Fasting plasma lipids were normal. A diagnosis of type A insulin resistance syndrome was considered, and INSR gene mutation analysis was performed. Next generation sequence analysis was performed with the use of primers containing exon/exon-intron junctions in the INSR gene, and a novel heterozygous c.3486_3503delGAGAAACTGCATGGTCGC/p.Arg1163_Ala1168del change was detected in exon 19 of the INSR gene. In segregation analysis, the same variant was detected in the patient's mother, who had a milder clinical phenotype.We reported a novel, heterozygous, p.Arg1163_Ala1168del mutation in exon 19 of the INSR gene in a patient with type A insulin resistance syndrome, expanding the mutation database. The same mutation was associated with variable phenotypical severity in two subjects within the same family.
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- 2024
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