23 results
Primary objective: 1) To examine the effect of IGSF1 deficiency syndrome on semen quality when compared to WHO reference ranges;2) The comparison of semen quality of these patients to that of healthy controls.To investigate the association between…
The aim of this study is to determine novel (bio)markers that show a stronger correlation with signs of over- and under-treatment than the conventional adrenal steroid profile in children with CAH.
1. Normalization of the abnormal serum TH parameters and thereby improving the clinical condition of the AHDS patients2. Observation of changes in cognitive and motor function.
To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.
Objective of this pilot study is to investigate differences in neuropsychological functioning between CAH patients and healthy controls. Differences in neuropsychological functioning may influence the quality of life and daily functioning of…
The family with the TRα2 premature stop enables us to investigate the biological role of the orphan wild-type TRα2 and the consequences of its dysfunction. The primary objectives of this proposal are (i) to search for a biological function of TRα2…
The objective of this study is to investigate cardiac sympathetic ativity in subjects with 22q11DS and the effect of catecholamine depletion.
In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well
To determine whether different MR-based imaging techniques and FibroScan can be used for the purpose of identifying and monitoring Gaucher Disease patients at high risk of developing disease related liver complications.
Objective 1: To improve clinical practice in the management of disorders of sex development (DSD)Objective 2: To develop accepted evidence-based clinical guidelines for a better clinical care of patients with DSD affected by distinct genetic…
The primary objective is to determine if disease associated lesions in patients with VHLD can be visualized with 89Zr-bevacizumab PET scans. Secondary objectives are to explore if 89Zr-bevacizumab PET imaging can differentiate progressive from non-…
Comparing fertilty of male galactosemia patients to a control group
Assessment of glucose homeostasis and endothelial function and glycocalyx status in 30 subjects with heterozygous mutations in EXT1 or EXT2 and 30 unaffected related controls.
1. to investigate whether the known chronic inflammatory and hyperoxidative state in patients with severely increased LDL is associated with dysfunctional HDL.2. to investigate whether CVD in FH is associated with dysfunctional HDL.
Which combinations of mutations in the HFE and HJV and other genes involved in iron metabolism are associated to iron overload?
Objective: The primary objective of the study is to determine the effect of standard treatment with levothyroxine in TR*1 deficiency on:- Neutrophil and macrophage function- Erythropoiesis- Thyroid hormone target gene expression- Plasma metabolome
The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify for surgery based on response…
To evaluate the effects of GH, after final height is reached, on weight, body composition, psychosocial functioning, carbohydrate metabolism and serum lipids. To find an optimal dose growth hormone for adults with PWS. We aimed to stabilize the body…
The perception of adult females diagnosed with CAH, who underwent genital surgery in childhood, on early feminizing surgery.
Primary objective:* To investigate the consequences of (recurrent) hypoglycaemia on inflammatory responsesSecondary objectives:* To study the atherogenic consequences of (recurrent) hypoglycaemia* To study the molecular mechanisms involved in the…