Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease
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Maya B. Lodish
, Spyridon A. Mastroyannis
Abstract
Decreased bone mineral density (BMD) has been documented in adults with Cushing disease (CD), and allelic variants of the vitamin D receptor (VDR) gene have been associated with osteopenia. Genetic factors play an important role in bone accrual and its response to various diseases; among them, the most studied are the allelic variants of the VDR gene. There is debate as to whether described variants in the VDR gene have an effect on BMD. In the current study, we sought to analyze whether BMD differences in patients with CD were associated with the Taq1 and Apa1 VDR allelotypes. The data showed lack of association between BMD and these widely studied VDR polymorphisms, suggesting that the effect of endogenous hypercortisolism on bone in the context of CD does not depend on VDR genotypes.
©2012 by Walter de Gruyter Berlin Boston
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- Meetings
- Meetings Calendar
- Prelims
- Prelims
Articles in the same Issue
- Editorial
- 10.1515/jpem-2012-0999
- Reviews
- Sertoli cell markers in the diagnosis of paediatric male hypogonadism
- Congenital hypothyroidism
- Images in Pediatric Endocrinology
- Autoimmune thyroid disease and allergic contact dermatitis: two immune-related pathologies in the same patient
- Metformin use in children with obesity and normal glucose tolerance – effects on cardiovascular markers and intrahepatic fat
- The effects of metformin on inflammatory mediators in obese adolescents with insulin resistance: controlled randomized clinical trial
- Prevalence of components of the metabolic syndrome according to birthweight among overweight and obese children and adolescents
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- Serum chitotriosidase activity: is it a new inflammatory marker in obese children?
- Newer Doppler echocardiography techniques in assessment of heart function in obese patients
- Effects of a multicomponent wellness intervention on dyslipidemia among overweight adolescents
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- Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism
- GH deficiency during the transition period: clinical characteristics before and after GH replacement therapy in two different subgroups of patients
- Therapy strategies in vitamin D deficiency with or without rickets: efficiency of low-dose stoss therapy
- Children with isolated hypospadias have different hormonal profile compared to those with associated anomalies
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- Evaluation of self-assessment of pubertal maturation in boys and girls using drawings and orchidometer
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- Changes in carotid artery sonogram in premature adrenarche
- Patient Reports
- Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene
- Encephalopathy and sinustachycardia in childhood a possible differential diagnosis
- Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma
- Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias
- Bilateral bloody nipple discharge in a male infant: sonographic findings and proposed diagnostic approach
- 49, XXXXY syndrome: an Italian child
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- A girl with Hajdu-Cheney syndrome and premature ovarian failure
- A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy
- Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus
- Severe hypercalcemia without hypercalciuria in a previously healthy infant
- Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature
- A case of diabetes mellitus associated with Rett Syndrome
- Peripubertal hypoglycemia – an unusual cause
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- Short Communication
- Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease
- Meetings
- Meetings Calendar
- Prelims
- Prelims