Evaluation of Thyroid Functions with Respect to Iodine Status and TRH Test in Chronic Autoimmune Thyroiditis

Objective: Chronic autoimmune thyroiditis (CAT) is the most common form of thyroiditis in childhood and a frequent cause of acquired hypothyroidism. The objective of this study was to evaluate the thyroid status of childrenand adolescents with CAT with respect to iodine status and diagnostic values of thyrotropin-releasing hormone (TRH) test

Celiac disease and autoimmune thyroid disease in children with type 1 diabetes mellitus: clinical and HLA-genotyping results

Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD. Methods: The association of CD and ATD was evaluated in 38 children with T1D aged 1.5-16.8 years who had been followed for 48.3±28 months. Diagnosis of CD was based on positivity for serum endomysial IgA antibody and histopathological findings of intestinal biopsy specimens. Thyroid autoimmunity was assessed by antithyroglobulin and antithyroid peroxidase antibodies and with diagnostic ultrasonographic findings. Results: ATD was detected in 31.5%, and CD-in 7.8% of T1D patients. Subjects with CD showed either no symptoms or suggestive problems such as short stature, hepatosteatosis, pubertal delay and difficulties in the control of diabetes. Patients with ATD had no clinical symptoms. DQ8 was the most prominent finding in CD. Conclusions: It is essential that patients with T1D, regardless of presence or absence of symptoms, should be investigated for CD and ATD

Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (−8.6 SD) and 117 cm (−6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (−1.5 SD) in patient 1 and 153 cm (−1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss−of−function mutations in GHRHR, their final heights reached the target height

Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age

Objective: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age

Çocuk ve adolesanlarda tiroid nodüllerinin değerlendirilmesi: Türkiye'de çok merkezli çalışma

Introduction: Ultrasonography and fine needle aspiration biopsy are reliable diagnostic methods used to predict malignancy in thyroid nodules. They are useful in identifying patients for therapy or preventing unnecessary surgery. Materials and Methods: The aim of this study was to compare clinical and ultrasonographic findings with fine needle aspiration biopsy and histopathological examination results in children with thyroid nodules. Retrospective study. This multicentre study included pediatric patients with thyroid nodules, followed up between July 2002 and November 2019 in nine Turkish Pediatric Endocrinology Units. Clinical, ultrasonographic, cytological and histopathological findings (malignant or benign) were analyzed retrospectively. Fine needle aspiration biopsy findings were classified according to American Thyroid Association criteria. Results: A total of 203 children were included, of whom 82.3% (n=167) were female. Mean±standard deviation age was 14.06±2.26 (range 3.7-19) years. Cytological diagnoses were: non–diagnostic or unsatisfactory 1.9%; benign 59.6%; atypia or follicular lesion of undetermined significance, suspicious for follicular neoplasm in 2.4%; suspicious for malignancy 12.8%; and malignant in 1.9%. Surgery was performed in 59 (29.1%) patients. In total 33 (16.3%) patients were diagnosed with malignancy. In patients with benign fine needle aspiration biopsy results, malignancy was detected in 17.6% when they underwent surgery. Malignancy was present in 44.4% of the patients with cytologically determined atypia or follicular lesion of undetermined significance. The diagnostic accuracy of fine needle aspiration biopsy was 79%. Conclusion: This study is first multicentre study investigating thyroid nodules in children and adolescents in Turkey. In this population fine needle aspiration biopsy has an important role in diagnosis, but ultrasonographic features of nodule should also be taken into consideration. Atypia or follicular lesion of undetermined significance may be of greater clinical significance than has previously been reported.Giriş: Ultrasonografi ve ince iğne aspirasyon biyopsisi, tiroid nodüllerinde maligniteyi öngörmede kullanılan güvenilir tanı yöntemleridir. Doğru hastayı bulmada ve gereksiz ameliyatları önlemede faydalıdırlar. Bu çalışmanın amacı tiroid nodülü bulunan çocuklarda ince iğne aspirasyon biyopsisi ile klinik, ultrasonografik bulgular ve histopatolojik inceleme sonuçlarını karşılaştırmaktır. Gereç ve Yöntem: Bu çok merkezli çalışmada, Türkiye’den 9 farklı Pediatrik Endokrinoloji Ünitesinde Temmuz 2002-Kasım 2019 tarihleri arasında takip edilen tiroid nodüllü hastaların verileri incelendi. Tiroid nodüllü çocuk hastaların klinik, ultrasonografik, sitolojik ve histopatolojik bulguları (malign veya benign) retrospektif olarak incelendi. İnce iğne aspirasyon biyopsisi ile takip edilen hastaların bulguları Amerikan Tiroid Birliği’ne göre sınıflandırıldı. Bulgular: Çalışmaya toplam 203 çocuk dahil edildi, hastaların %82,3’ü (n=167) kadındı. Hastaların ortalama yaşı 14,06±2,26 yıl (dağılım 3,7-19 yıl) idi. Hastaların sitolojik tanıları şu şekildeydi: %1,9’u tanı dışı veya yetersiz, %59,6’sı benign, önemi belirsiz atipi veya foliküler lezyon, %2,4’ü foliküler neoplazm şüpheli, %12,8’i malignite şüphesi, %1,9’u malign idi. 59 hastaya cerrahi uygulandı. Otuz üç hastaya malignite tanısı konuldu. Benign ince iğne aspirasyon biyopsisi sonucu olan hastaların %17,6’sında ameliyat olduklarında malignite saptandı. Önemi belirlenemeyen sitolojiye sahip atipi veya foliküler lezyonu olan hastaların %44,4’ünde malignite mevcuttu. İnce iğne aspirasyon biyopsisinin tanısal doğruluğu %79 idi. Sonuç: Bu çalışma, Türkiye’de çocuk ve ergenlerde tiroid nodüllerini araştıran ilk çok merkezli çalışmadır. Tiroid nodülü olan çocuklarda ince iğne aspirasyon biyopsisi tanıda önemli bir yere sahiptir ancak nodülün ultrasonografik özellikleri de dikkate alınmalıdır. Atipi veya önemi belirsiz foliküler lezyon bilinenden daha önemli olabilir