Volume CXIV, Number 4, November 7, 1996

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 lifespa

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses. In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635delTTC (p.F545del), c.261+1G>A (p.S65Rfs*6), and c.7dupA (p.S3Kfs*11), in 5 families with the condition. In total, 8 patients were investigated, some of whom also manifested other features, including ichthyosis, primary hypothyroidism, neurological symptoms, and cryptorchidism. Sgpl1-/- mice recapitulated the main characteristics of the human disease with abnormal adrenal and renal morphology. Sgpl1-/- mice displayed disrupted adrenocortical zonation and defective expression of steroidogenic enzymes as well as renal histology in keeping with a glomerular phenotype. In summary, we have identified SGPL1 mutations in humans that perhaps represent a distinct multisystemic disorder of sphingolipid metabolism

Prevalence of anticardiolipin antibodies in type 1 diabetes and autoimmune thyroiditis

WOS: 000279614400003PubMed ID: 20332712INTRODUCTION High levels of anticardiolipin (aCL) antibodies may predict vascular complications that could develop in type 1 diabetes and auto-immune thyroiditis (AIT). However, the clinical relevance of these antibodies in subjects with type 1 diabetes and AIT is unclear. OBJECTIVES The aim of the study was to determine the prevalence and significance of aCL antibodies in patients with type 1 diabetes and AIT. PATIENTS AND METHODS The study involved 74 patients with type 1 diabetes (mean age 12.9 +/- 4.2 years), 64 patients with AIT (mean age 14.1 +/- 3.7 years), and 35 healthy control subjects (mean age 12.8 +/- 3.3 years). The levels of aCL immunoglobulin (Ig) G and aCL IgM antibodies were measured by enzyme-linked immunosorbent assays. Low-positive and medium/high-positive cut-off values were selected for aCL antibody positivity. RESULTS The prevalence of aCL antibodies was higher in AIT patients compared with diabetic and healthy subjects with low positive levels (P < 0.05), while the frequency of medium/high aCL positive levels in AIT and diabetic subjects was not statistically different from that observed in healthy subjects. CONCLUSIONS Our study showed an increased prevalence of aCL antibody positivity in patients with AIT at a low-positive aCL cut-off level, while the frequency of aCL antibody positivity at a moderate/high aCL cut-off level was not significantly different between the groups. We believe that routine investigation of aCL levels may not have clinical relevance in children with type 1 diabetes or AIT

Scrotal Ultrasonography Revisited for Non-Palpable Testicular Tumors in the Prepubertal Age: Case Report

A 4-year-6 month old boy was seen for sexual precocity manifested by growth spurt, frequent penile erection, penile enlargement and pubic hair development. Scrotal ultrasonography performed even though the testes were prepubertal, symmetric and bilaterally palpable- disclosed a tumor in the left testis. Left orchiectomy was performed and Leydig cell tumor was detected. Herein, we emphasize the role of scrotal ultrasonography in cases with gonadotropin-independent sexual precocity whereby the presence of non-palpable tumors should be excluded despite symmetrical testicles in the physical examination

Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY

Evaluation of Plasma Melatonin Levels in Children With Afebrile and Febrile Seizures

BACKGROUND: Melatonin modulates central nervous system neuronal activity. We compared the melatonin levels of patients with febrile and afebrile seizures during and after seizure with those of healthy controls. METHODS: We enrolled 59 individuals with afebrile and febrile seizures (mean age, 6.09 +/- 4.46 years) and 28 age-, sex-, and weight-matched healthy children. Melatonin levels were measured near the time of a seizure (0 to 1 hour) and at 12 and 24 hours post-seizure, and control melatonin levels were measured from a single venous blood sample. RESULTS: Plasma melatonin levels increased during seizures in the study group (P < 0.001). Post-seizure plasma melatonin levels were significantly lower in the study group than in the control group (P < 0.05). Plasma melatonin levels did not differ between patients with afebrile seizures who had and had not used antiepileptic drugs. Daytime (8 AM to 8 PM) and nighttime (8 PM to 8 AM) post-seizure melatonin levels were not significantly different. CONCLUSIONS: Melatonin levels were lower in pediatric patients prone to seizures than in healthy children and increased during seizures. Further research is needed to test the role of melatonin in the pathophysiology and treatment of epilepsy. (C) 2016 Elsevier Inc. All rights reserved