Background
Studies on adults have shown increased dispersion of QT and corrected QT (QTc), peak‐to‐end interval of the T wave (Tp‐e), Tp‐e/QT ratio, and Tp‐e/QTc ratio in subclinical hypothyroidism ...(SH), but there have been no pediatric studies.
Materials and methods
A total of 40 SH patients were compared with 40 healthy children in respect to serum thyroid‐stimulating hormone (TSH), serum‐free level of triiodothyronine, and free level of thyroxine (fT4). SH diagnosis was accepted as TSH above the laboratory accepted upper limit (>4.2 mU/L) and normal fT4 values. The patient and control group data were compared by calculating the QT interval, QTc, QT dispersion (QTd), QTc dispersion (QTcd), Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio on 12‐lead surface electrocardiogram.
Results
The mean age was 7.91 ± 3.6 years in the SH group and 8.8 ± 2.4 years in the control group. In the SH group, the minimum QT (QTmin) was determined to be statistically significantly lower (P < 0.001) and maximum QT (QTmax), QTd, QTcd, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio were statistically significantly higher (P = 0.028, P < 0.001, P = 0.003, P < 0.001, P = 0.001, P < 0.001, respectively). A positive correlation was determined between TSH and QTmax (r: +0.331, P = 0.037).
Conclusions
The current study is the first to have shown significantly increased QTd, QTcd, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio in children diagnosed with SH. A positive correlation was determined between TSH and maximum QT values, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio. These results suggest the need to further assess the long‐term risks of prolonged QT dispersion in the setting of subclinical hypothyroidism.
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BFBNIB, DOBA, FSPLJ, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Subclinical hypothyroidism (SH) may influence both ventricular functions. The aim of this study was to evaluation the findings of Tissue Doppler Imaging (TDI) and other echocardiography modalities in ...children with SH. We compared left ventricular mass index (LVMI) and TDI parameters of patients with SH and children with euthyroidism. Subclinical hypothyroidism was diagnosed when thyroid stimulating hormone level was higher than the reference value of the laboratory (> 4.2 mIU/L) and free thyroxine level was in normal range. The study included a group of 35 patients with SH and a control group of 38 children with euthyroidism (mean age was 7.6 ± 3.5 years and 9.0 ± 2.4 years, respectively). LVMI was significantly higher in the patient group (p = 0.005). TDI parameters including mitral septal ejection time was lower (p = 0.003) and mitral septal myocardial performance index was higher (p = 0.009) in the patient group. Right ventricular TDI revealed that tricuspid lateral E/Ea and tricuspid septal E/Ea were higher (p = 0.015 and p = 0.024, respectively) and tricuspid septal Ea/Aa and ejection time were lower (p = 0.018 and p = 0.017, respectively) in the patient group. SH may lead to increase LVMI. Left ventricular systolic and diastolic TDI parameters (lower mitral septal ejection time, higher mitral septal myocardial performance index) as well as right ventricular systolic (lower tricuspid septal ejection time) and diastolic (higher tricuspid septal and lateral E/Ea, lower tricuspid septal Ea/Ea) functions may be also impaired in children with subclinical hypothyroidism. TDI is a useful method used for the assessment of the effect of SH on cardiac functions.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase ...deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the
gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the
gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Aim
17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the
CYP17A1
gene. The main clinical findings are delayed puberty and primary ...amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency.
Methods
The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of
CYP17A1
gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene.
Results
The average age of the patients at the time of admission was 14.8 (range: 12.9–16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively.
Conclusions
P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Subclinical hypothyroidism (SH) is defined as an elevated serum thyroid-stimulating hormone (TSH) level with free thyroxine (fT4) level in the normal range. There are very few studies in the ...literature reporting on the effect of SH on lipid metabolism and carotid intima-media thickness (CIMT) in children.
The study included 38 children diagnosed with SH and a control group comprising 38 healthy, euthyroid children. SH was diagnosed based on an elevated TSH level (4.2-20 mIU/L) and normal fT4 level measured in two morning fasting blood samples obtained at an interval of 2 to 6 weeks. Blood samples were collected by venipuncture in the morning after an overnight fast.
The patient group included 38 children (16 male, 22 female) with SH and the control group -38 healthy, euthyroid children (20 male, 18 female). Mean age was 8.1±3.6 (range, 3.5-15) years in the patient group and 8.9±2.4 (range, 4.5-15) years in the control group. In the patient group, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), TC/high-density lipoprotein cholesterol (HDL-C), and LDL-C/HDL-C were higher compared to the control group (p=0.049, p=0.014, p=0.002, and 0.003, respectively). In the patient group, CIMT was also significantly higher compared to the control group (p=0.001). The patient group was further divided into two subgroups based on their serum TSH level: (I) patients with mildly elevated TSH (TSH=4.2±10 mIU/L) (n=33) and (II) patients with high TSH (TSH≥10 mIU/L) (n=5). However, no significant difference was found between the patients with mild and severe SH with regard to TC, LDL-C, HDL-C, triglyceride level and CIMT levels (p=0.635, p=0.424, p=0.310, p=0.342, and 0.610, respectively).
Subclinical hypothyroidism leads to increased dyslipidemia (increased TC and LDL) and increased CIMT, which leads to increased risk of cardiovascular disease. Further studies are needed to substantiate these findings in children with SH.
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Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is ...characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. The family reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels.
gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the
gene that was identified for the first time. This presented with different phenotypes in two siblings.
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The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to ...Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.
The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.
In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).
In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
8.
Subclinical hypothyroidism and long QT Akın, Alper; Unal, Edip; Yıldırım, Ruken ...
Pacing and clinical electrophysiology,
September 2018, 2018-09-00, 20180901, Volume:
41, Issue:
9
Journal Article
Peer reviewed
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BFBNIB, DOBA, FSPLJ, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Objective: Due to the hot climate of the Southeastern Anatolia Region, snake poisoning is common, which causes serious mortality and morbidity. We aimed to present the clinical course, complications ...and treatment approaches of patients hospitalized with snakebites.
Methods: One-hundred and eight pediatric patients treated in the hospital for snakebites, excluding dry bite, were included in the study during a 5-year period. Gender, age, bite site, month, time, type of intervention in the field, symptoms, laboratory findings, complications, tetanus vaccination and antivenom administration were recorded by reviewing patient files.
Results: The patients were aged between 10.2+3 (2-15) years and 72 (66.7%) were males. Seventy-three (67.6%) of patients were from rural areas. The bites were mostly from the lower extremity, at between 12-18 o’clock. Grade 1 patients were excluded from the study. At the time of admission, there were 47 (43%) grade 2 and 31 (28%) grade 3 patients. It was observed that with increased grade, higher levels of white blood cell count, glucose level and hospital stay were seen (p
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Amaç: Turner sendromu X kromozomlarından birinin kaybı veya yapısal bozukluğu sonucu gelişen ve 2500 doğumda bir görülen genetik bir hastalıktır. Turner sendromu birçok sistemi etkilemektedir. Bu ...çalışmada Turner sendromlu olgularımızın klinik özellikleri ve eşlik eden anormalliklerin sıklığının değerlendirilmesi amaçlanmıştır.
Yöntemler: Çocuk Endokrinolojisi polikliniğinde Ocak 2013-Ocak 2020 tarihleri arasında Turner sendromu tanısı alan hastaların dosyaları retrospektif olarak incelendi. Dosya kayıtlarından hastaların antropometrik ölçümleri, karyotip analizi, başvuru yaş ve şikayetleri, eşlik eden kardiyak, renal ve işitme problemleri ve otoimmün hastalık olup olmadığı kaydedildi.
Bulgular: Çalışmaya ortalama başvuru yaşı 9,83±3,81 olan 28 hasta alındı. Yirmi sekiz hastanın 13’ünde ( % 46,4) karyotip analizi 45, X0 saptandı. Başvuru esnasında hastaların ortalama boy standart deviasyon skoru: -3,61 ± 1,17 idi. Yirmi sekiz olgunun 7’sinde (% 25) kardiyak patoloji, 3’ünde (% 10,7) atnalı böbrek anomalisi, 3’ünde (% 10,7) Hashimoto tiroiditi hastalığı ve 2’sinde (% 7,1) Alanin transaminaz yüksekliği saptandı. İşitmesi değerlendirilen 19 hastanın 8’inde (% 42,1) iletim tipi işitme kaybı mevcuttu. Tanı esnasında 27 hastanın pubertesi Tanner evre 1 iken, 1 olguda pubertenin spontan başladığı ve menarş olduğu tespit edildi. Tüm hastalar boy kısalığı ile başvurmuştu.
Sonuç: Turner sendromunun en sık görülen iki bulgusu boy kısalığı ve gecikmiş pubertedir. Bunun dışında kalp ve böbrek hastalıkları, gastrointestinal sistem ve işitme problemleri, otoimmün hastalık sıklığında artış gibi başka sistemleri de etkilemektedir. Daha iyi bir final boya ulaşmak ve eşlik eden patolojilerle ilgili komplikasyonları önlemek için erken tanı oldukça önemlidir. Bu çalışma, çocuklarda boy kısalığı ve hipergonadotropik hipogonadizm gibi kardinal bulguların olmamasının, Turner sendromu tanısını ekarte etmeyeceğini göstermiştir.
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