Objective:Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods:Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results:The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion:This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

Objective: Shear wave elastography (SWE) is a user-independent ultrasonographic technique that evaluates tissue elasticity. It is used especially in the evaluation of thyroiditis and thyroid nodules when it is capable of distinguishing malignant from benign thyroiditis in adults. To date, no studies have evaluated SWE in pediatric thyroid patients. The aim of this study was to measure the elasticity of normal thyroid tissue in children and adolescents using SWE and to investigate its role in the diagnosis of pediatric autoimmune thyroiditis. Methods: In total, 113 healthy children of whom 66 (58.4%) were girls and 57 children with autoimmune thyroiditis of whom 45 (78.9%) were girls were evaluated by SWE after B-mode ultrasound. The quantitative evaluation of normal thyroid tissue in healthy children and those with autoimmune thyroiditis was performed using shear wave velocity (SWV) values (m/s). Thyroid antibodies were consistent with autoimmune thyroiditis. Data were compared using descriptive and analytical statistics and receiver-operating characteristic curves. Results: The mean ± standard deviation (range) of SWV value in thyroid parenchyma of the healthy children was 1.82±0.3 m/s (1.32-2.37) m/s. There was a significant positive correlation between age and SWV values which increased with age. The average SWV value of thyroid parenchyma in children with autoimmune thyroiditis was 3.7±1.2 (2.59-6.25) m/s which was statistically significantly greater than in healthy children (p=0.00). The cut-off value for elasticity with the highest diagnostic accuracy was 2.39 m/s; sensitivity and specificity were 97.4% and 100% respectively. There was no correlation between elasticity, thyroid function tests and autoantibody concentrations (p>0.05). Conclusion: SWE is a useful imaging method that can be used with routine ultrasonography in evaluation of the thyroid in children.

Objective: Early diagnosis and treatment of testicular adrenal rest tumors (TART) is important for gonadal functions and fertility protection in boys with congenital adrenal hyperplasia (CAH). In this descriptive study, we investigated the prevalence of TART in boys with 21-hydroxylase deficient (21OHD) CAH followed in our pediatric endocrine clinic.Methods: The study group consisted of 14 male patients with a mean age of 9.6±5.1 (range: 0.8-18.3) years. Six (42.9%) of the 14 patients were diagnosed as having salt-wasting type (SW) and eight (57.1%) patients - as having the simple virilizing (SV) form of 21OHD. Mean age at diagnosis was 2.9±2.7 (range: 0.03-6.3) years. Two different radiologists performed scrotal ultrasonography. Chronological age, bone age, and anthropometric measurements were evaluated. Serum adrenocorticotropic hormone (ACTH), 17-alpha-hydroxyprogesterone (17OHP) and androstenedione levels were also evaluated in all patients during the follow-up period.Results: Scrotal ultrasonography revealed bilateral TART in two patients (14.3%) and testicular microlithiasis (TM) in four patients (28.6%). One patient had both TART and TM bilaterally. During the follow-up period, the mean serum adrenocorticotropic hormone, 17OHP and androstenedione levels in the total group of patients were 130.0±179.1 pg/mL (21.7-726.5), 5.8±3.3 ng/mL (0.8-11.4) and 4.3±4.1 (0.2-11.0) ng/mL, respectively.Conclusions: Microlithiasis or TART may be frequently encountered during the follow-up of patients with CAH. In order to prevent late complications including infertility, we suggest that ultrasonographic evaluations be performed yearly in all male CAH patients. Conflict of interest:None declared.

Objective: Hyperprolactinemia may be due to various etiological factors and may present with different signs and symptoms. It is relatively less frequent in childhood than in adulthood. The aim of this study was to evaluate retrospectively the clinical course and outcome of hyperprolactinemia in pediatric patients.Methods: We investigated the records of 21 patients with hyperprolactinemia who attended a tertiary hospital.Results: Menstrual problems, galactorrhea , and headache were the most common presenting symptoms. Hyperprolactinemia was due to microadenoma in 10, macroadenoma in 7, and was drug-induced in 4 patients. Bromocriptine and cabergoline were equally effective in lowering serum prolactin levels. Surgical treatment in children with macroprolactinoma was not curative and dopamine agonist therapy was required postoperatively.Conclusion: In the presence of any clinical symptom or sign suggestive of suppression of the pituitary-gonadal axis, hyperprolactinemia should not be forgotten as a probable diagnosis. Medical therapy seems effective in microadenoma. Surgical therapy may not be successful in macroadenoma and recurrence is frequent.Conflict of interest:None declared.