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.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
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.
National, multicenter and retrospective study.
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.
Diagnostic tests of CD and tumour size.
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.
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.
Full text
Available for:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with ...autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (
) gene. The aim of this study was to evaluate two patients with a previously reported
homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment.
Nine patients diagnosed with NS due to the same variants in the
gene were included in the study.
The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24±1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03±17.09 and the verbal score was 82.88±9.42. Genetic analysis revealed a variant in the
gene c.772G>A; (p.Glu258Lys) that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two.
A previously described in
affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous
case reports published, coming from two related consanguineous families.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in ...Diyarbakır in 2011. The aim of this study was to evaluate the current incidence rate of pediatric T1D in Diyarbakır, and compare the incidence, and clinical and presenting characteristics of more recent cases with those reported in our first report.
Hospital records of patients diagnosed with T1D in Diyarbakır city between 1
January 2020 and 31
December 2020 and aged under 18 years old were retrieved, and their medical data was extracted. Demographic population data were obtained from address-based census records of the Turkish Statistical Institution (TSI).
Fifty-seven children and adolescents were diagnosed with T1D. Of those, 34 were female (59.6%), indicating a male/female ratio of 1.47. The mean age at diagnosis was 9.5±3.9 years (0.8-17.9). TSI data indicated a population count of 709,803 for the 0-18 years age group. Thus the T1D incidence was 8.03/10
in the 0-18 age group and was higher in the 0-14 age group at 9.14/10
. The cumulative increase in the incidence of T1D in the 0-14 age group was 26.9% suggesting an increasing rate of 2.7% per year. The frequency of presentation with diabetic ketoacidosis was 64.9%.
The annual incidence of pediatric T1D in Diyarbakır city increased from 7.2/10
to 9.14/10
within the last decade. The rate of annual increase was 2.7% in the 0-14 age group comparing this study with our earlier report, with a predominance in male subjects and a shift of peak incidence from the 5-9 year age group in the first study to the 10-14 year age group in this one.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Amaç: Gonadotropin-releasing hormone analogları (GnRHa), uzun yıllardır santral puberte prekokslu (SPP) hastaların tedavisinde yaygın olarak kullanılmaktadır. Önceki çalışmalarda GnRHa tedavisinin ...vücut kitle indeksi (VKİ) üzerindeki etkileri ile ilişkili çelişkili sonuçlar mevcuttur.Bu çalışmada SPP tanısı konulan kız çocuklarında GnRHa tedavisinin VKİ üzerindeki etkisinin değerlendirilmesi amaçlanmıştır. Materyal ve metod: Çalışmaya Eylül 2016 – Haziran 2021 tarihleri arasında SPP nedeniyle izlenen ve tedavi edilen toplam 145 kız hasta alındı. Olguların geriye dönük dosya kayıtlarında; başvuru anındaki yaşı, başlangıç ve tedavinin birinci yılındaki boy, kilo, VKİ ve standart deviasyon skorları (SDS), kemik yaşı, Tanner evresi, serum folikül uyarıcı hormon (FSH), lüteinizan hormon (LH), östradiol (E2) seviyeleri ve GnRH stimülasyon testi sırasındaki pik LH seviyesi değerlendirildi. Bulgular: Santral puberte prekoks saptanan 145 hastanın tedavi başlangıcındaki yaş ortalaması 7.27±0.97 yıl, ortalama kemik yaşı 9.12±1.10 yıl idi. Tedavi başlangıcında 118 (% 81.38) hasta normal veya düşük kilolu, 27 (% 18.62) hasta ise kilolu yada obezdi. 109 (%75.17) olgu tanner evre 2, 30 olgu (% 20.69) tanner evre 3 ve 6 olgu (% 4.14) ise tanner evre 4’te idi. Tüm hastaların tedavi öncesi ortalama VKİ-SDS’si 0,11±0,99 iken, tedavinin birinci yılında 0.35 ± 0.95 olarak bulundu ve anlamlı ölçüde artış saptandı (p<0.01). Normal veya düşük kilolu hastaların tedavi öncesi ortalama VKİ-SDS’si -0.21± 0.78 iken, tedavi sonrası 0.09±0.84 saptandı (p < 0.01). Kilolu veya obez hastaların başlangıç VKİ-SDS’si 1.53±0.40 iken, tedavi sonrası 1.48±0.49 saptandı (p=0.41). Sonuç: Çalışmamızda santral puberte prekoks tedavisinde kullanılan GnRHa tedavisinin zayıf ve normal kilolu olgularda VKİ-SDS’sini artırdığı, fazla kilolu veya obez grupta ise değişikliğe yol açmadığı gösterilmiştir.
Background: Gonadotropin-releasing hormone analogues (GnRHa) have been widely used in the treatment of patients with central precocious puberty (CPP) for many years. In previous studies regarding the effects of GnRHa therapy on body mass index (BMI), conflicting results have been obtained. In this study, it was aimed to evaluate the effects of GnRHa therapy on BMI in girls diagnosed with CPP. Material and method: In the study, a total of 145 female patients, who were treated and followed up due to CPP between September 2016 and June 2021, were included. In the retrospective review of medical records of the patients, age at admission, height, weight, BMI and standard deviation scores (SDS), bone age, Tanner stage, serum follicle-stimulating hormone (FSH) levels, luteinizing hormone (LH) levels, estradiol (E2) levels and the peak LH level in the GnRH stimulation test in the beginning and after the first year of treatment were evaluated. Results: The mean age of 145 patients with central precocious puberty in the beginning of treatment was 7.27±0.97 years, and the mean bone age was 9.12±1.10 years. In the beginning of treatment, 118 (81.38%) of the patients were at a normal weight or underweight, and 27 (18.62%) patients were overweight or obese. 109 (75.17%) of the patients were in Tanner stage 2, 30 (20.69%) patients were in Tanner stage 3, and 6 (4.14%) patients were in Tanner stage 4. While the mean BMI-SDS of all patients was 0.11±0.99 before the treatment, it increased significantly (p<0.01) in the first year of treatment and was found as 0.35 ± 0.95. While the mean BMI-SDS of patients who were at a normal weight or underweight was -0.21± 0.78 before the treatment, it was found as 0.09±0.84 after the treatment (p < 0.01). The initial BMI-SDS of overweight or obese patients was 1.53±0.40, and it was found as 1.48±0.49 after the treatment (p=0.41). Conclusion: In our study, it was shown that GnRHa therapy used in the treatment of central precocious puberty increased the BMI-SDS in patients who were at a normal weight or underweight, but it did not cause any change in patients who were overweight or obese.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Background and Purpose
There are a few studies regarding intracranial findings in neonates with Noonan syndrome (NS); however, there are no quantitative analyses in a pediatric population. The aim of ...this study was to find characteristic intracranial abnormalities and to quantitatively analyze the posterior fossa and cranium base in children with NS.
Methods
A total of 30 patients (11 females and 19 males, mean age 13.1 ± 4.3 years) were retrospectively identified between July 2017 and June 2022. Twenty‐one patients had MRI. Age at MRI examination, sex, genetic mutations, and clinical findings were noted. In patients with MRI, the presence of white matter lesions, basal ganglia lesions, corpus callosum abnormalities, sellar/parasellar lesions, and tonsillar ectopia was noted. For morphometric analysis, cerebellar diameter, vermis and clivus heights, cranial base, tentorial and infratentorial angles, and McRae's and Twining's lines were each measured twice by two radiologists individually.
Results
The most common lesions were focal white matter lesions, followed by abnormalities of the splenium of the corpus callosum. The cerebellar diameter, vermis and clivus heights, Twining's line, and infratentorial angle were significantly smaller; cranial base angle and tentorial angle were significantly larger in NS (p < .05). Interrater and intrarater agreements were the highest for cerebellar diameter and the lowest for tentorial angle measurements.
Conclusion
Children with NS had characteristic callosal and tentorial findings and neuroimaging findings similar to other RASopathies. This study also shows that a small posterior fossa and flattening of the cranial base are present in children with NS, which may aid in diagnosis.
Full text
Available for:
FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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.
Full text
Available for:
BFBNIB, DOBA, FSPLJ, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
INTRODUCTION: The aim of the study was to determine the importance and reliability of IL-6, IL8, TNF-α and C-reactive protein (CRP) levels in terms of diagnosis and prognosis in neonatal sepsis. ...METHODS: Thirty newborns who were followed up and treated with the prediagnosis of neonatal sepsis in Neonatal Intensive Care Unit and 20 healthy newborns born to mothers without any disease were included in the study. Gender, gestational age, postnatal age, place and type of birth, birth weight, IL-6, IL-8, TNF-α and CRP levels of the cases were recorded. RESULTS: Of the 30 cases diagnosed clinically as sepsis, 16 (53.3%) were male and 14 (46.7%) were female. Of the 20 cases in the control group, 11 (55%) were male and 9 (45%) were female. Eight (26.6%) of 30 sepsis cases were accepted as early-onset and 22 (73.4%) late-onset neonatal sepsis While the mortality rate in early-onset sepsis was 25%, this rate was 36.3% in late-onset sepsis cases. C-reactive protein, Interleukin-6, and Interleukin-8 were found to be statistically significantly higher in the group of cases than in the control group. Tumor necrosis factor-α levels were statistically similar in both groups. IL-6 (p: 0.001) and IL-8 (p: 0.007) levels were found to be statistically significantly higher in deceased cases. DISCUSSION AND CONCLUSION: C-reactive protein, Interleukin-6, Interleukin-8 levels in the diagnosis of neonatal sepsis found as parameters that can be used, TNF-α was not found to have diagnostic value. IL-6 and IL-8 levels were found to be significant in neonatal sepsis prognosis.
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.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
PDF
