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Damla Kotan L.,Cukurova University | Ian Hutchins B.,U.S. National Institutes of Health | Ozkan Y.,Firat University | Demirel F.,Ankara Pediatric Hematology and Oncology Training Hospital | And 9 more authors.
American Journal of Human Genetics | Year: 2014

Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS.We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.. © 2014 by The American Society of Human Genetics. All rights reserved. Source

Demirel F.,Ankara Pediatric Hematology and Oncology Training Hospital | Tepe D.,Ankara Pediatric Hematology and Oncology Training Hospital | Kara O.,Ankara Pediatric Hematology and Oncology Training Hospital | Esen I.,Ankara Pediatric Hematology and Oncology Training Hospital
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2013

Objective Screening of complications is an important part of diabetes care. The aim of this study was to investigate diabetic complications and related risk factors in adolescents with type 1 diabetes mellitus (T1DM). Methods: This cross-sectional study was conducted on type 1 diabetics who were over 11 years of age or had a diabetes duration of 2 years and included 155 adolescents with T1DM (67 male, 88 female). The mean age of the patients was 14.4±2.1 years. Mean diabetes duration was 6.3±2.9 years. The patients were screened for diabetic nephropathy, retinopathy and peripheral neuropathy. Results: Mean glycosylated hemoglobin (HbA1c) level of the study group was 8.4%. The frequency of microalbuminuria and peripheral neuropathy were 16.1% and 0.6%, respectively. None of the patients had diabetic retinopathy. Dyslipidemia and hypertension rates were 30.3% and 12.3%, respectively. Risk factors associated with microalbuminuria were hypertension, higher HbA1c levels, longer diabetes duration and dyslipidemia. Conclusion: Early diagnosis and treatment of hypertension and dyslipidemia as well as achieving a better metabolic control are important in prevention or postponement of complications in patients with T1DM. Yearly screening for diabetic nephropathy should be started 2 years after the onset of the diabetes. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. Source

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