Turner syndrome and associated problems in turkish children: A multicenter study

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 stenosi) 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. © Journal of Clinical Research in Pediatric Endocrinology

Anxiety and depression states of adolescents with polycystic ovary syndrome

Background/aim: Various studies have shown that adult patients with polycystic ovary syndrome (PCOS) have higher levels of anxiety and depression compared to their normal counterparts. However, it is still unclear whether these mood disorders already exist in adolescents affected by PCOS. The aim of the present study is to assess differences in anxiety and depression levels between adolescents with PCOS and age-and body mass index (BMI)-matched controls and to determine the possible factor(s) impacting these psychological parameters in adolescents with PCOS. Materials and methods: The study included 80 adolescents with PCOS and 50 age-and BMI-matched controls. All participants completed standardized questionnaires assessing anxiety and depression. A multiple linear regression model was used to analyze the impact of potential variables on anxiety and depression scores of the adolescents with PCOS. Results: Significantly higher levels of anxiety, specifically generalized and social anxieties, as well as depression were found in adolescents with PCOS compared to controls. Higher BMI was found to be associated with higher levels of depression and generalized anxiety, and higher modified Ferriman-Gallwey score with higher level of panic disorder in adolescents affected by PCOS. Conclusion: Adolescents with PCOS experience significantly more emotional distress compared to adolescents without PCOS. This emotional distress may be related, at least in part, to certain clinical features of PCOS including obesity and hirsutism. PCOS in adolescents should be assessed not only for the gynecological and metabolic aspects but also for the emotional aspects of the disease

Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect

To evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes due to GH treatment

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1±4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1±1.7, -1.4±1.5, and 0.4±1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc