Yaşar Şen

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 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.

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 1.3 cm shorter and mean birth weight was 0.36 kg 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.

Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Abstract Calcium pyrophosphate dehydrate (CPPD) crystal deposition disease (also known as chondrocalcinosis, CC) is a rare metabolic arthropathy mostly seen in elderly patients. Chondrocalcinosis may be associated with metabolic diseases such as hypomagnesemia when it occurs in young people. We report here a case with hypomagnesemia due to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) who developed CC during clinical follow-up. To our best knowledge this is the first case of a young patient with CPPD associated with FHHNC.

Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine.

Abstract Association of Kocher-Debré-Semelaigne syndrome–a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy, with rhabdomyolysis is very rare. We present a case of Kocher-Debré-Semelaigne syndrome with rhabdomyolysis secondary to Hashimoto’s thyroiditis. He had muscular symptoms simulating poly/dermatomyositis, massively elevated creatine kinase (CK) levels and high creatinine levels. All of the findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that Kocher-Debré-Semelaigne (KDS) syndrome was the underlying etiology. Serum thyroid- stimulating hormone levels should be routinely determined in all patients with muscular symptoms and/or elevation of CK and creatinine, keeping KDS syndrome in mind.

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

Marine-Lenhart syndrome in a young girl.

Abstract Graves’ disease is the most common reason of hyperthyroidism in children. Graves’ disease with accompanying functioning nodules is defined as Marine-Lenhart syndrome. This syndrome has not been described in children before. Here, a 15-year-old girl with Graves’ disease and a coexisting cold nodule is presented. A thyroid scan showed diffuse uptake of Tc-99m pertechnatate in both lobes and decreased uptake in accordance with the left lobe nodule. The nodule was histologically diagnosed as benign. The patient was diagnosed with type 1 diabetes mellitus and polyglandular autoimmune syndrome during clinical follow-up. The differential diagnoses of Graves’ disease with coexisting nodules should include the Marine-Lenhart syndrome. Treatment options should be determined taking this rare condition into account.

Decidual Cast after Discontinuation of Oral Contraceptives Use in a Young Girl

BACKGROUND The differential diagnosis of tissue passed per vagina in a young girl includes aborted pregnancy, rhabdomyosarcoma, polyp, and very rarely decidual cast. CASE A 10-year-old girl using oral contraceptives for menorrhagia presented with a decidual cast after discontinuing the drug. Symptoms disappeared during clinical follow-up without any intervention. CONCLUSIONS Decidual cast formation is an unusual entity of unknown origin. Its generally seen during treatment with variable contraceptives. This is the first case described with desogestrel and it occurred after discontinuing treatment.

Detection of h-FABP (heart-type fatty acid binding protein) Levels in Diabetic Ketoacidosis and Identification of Early Cardiac Effects of Ketoacidosis.

Objective: This study aimed to measure the serum levels of heart-type fatty acid binding protein (H-FABP) in patients presenting with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) and to determine its role in identifying early-period cardiac ischemia. Methods: This prospective study included 35 patients diagnosed with DKA, 20 patients diagnosed with DK, and 20 control subjects. H-FABP, creatine kinase-MB (CK-MB), and troponin I levels were investigated at presentation in patients with DKA and DK and in the control group. H-FABP values were measured again after acidosis correction in the DKA patients. Results: No statistically significant differences were found with respect to troponin I and CK-MB within the groups. The H-FABP values of DKA patients at presentation were found to be significantly higher than those of DK patients and the control group (p=0.015). The H-FABP value of the DKA group was also found to be significantly higher than the value at hour 36 after acidosis correction (p=0.0001). Conclusion: We would like to propose H-FABP as a potential marker for indicating myocardial ischemia.