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Semen analysis in males with IGSF1 deficiency syndrome

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…

Unraveling genetic causes of congenital multiple pituitary hormone deficiencies

To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.

Cardiac sympathetic activity in 22q11 deletion syndrome.

The objective of this study is to investigate cardiac sympathetic ativity in subjects with 22q11DS and the effect of catecholamine depletion.

Outcome study on gender identity, sexual functioning and psychological well being in patients with a disorder of sexual differentiation

In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well

Blood pressure and steroid metabolism in the first year of life in patients with congenital adrenal hyperplasia (CAH): a longitudinal study

To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…

Betacell and endothelial function in subjects with EXT-1 or EXT-2 mutations

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.

Characterization of functionality of HDL in patients with familial hypercholesterolemia

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.

Genotype-phenotype relation within families with various forms of hereditary hemochromatosis

Which combinations of mutations in the HFE and HJV and other genes involved in iron metabolism are associated to iron overload?

Effect of treatment with levothyroxine in a patient with thyroid hormone receptor *1 deficiency

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

Consequences of (recurrent) hypoglycaemia on cardiovascular and inflammatory responses in patients with diabetes mellictus type 1, type 2 and healthy volunteers

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…

Congenital central hypothyroidism plusminus ACTH or growth hormone deficiency: etiology and outcome

In this predominantly observational study all patients diagnosed with CH-C in the Netherlands between 1-1-1995 and 1-1-2015 will be traced and the following research questions will be addressed:1) What is the mortality rate associated with early…

Do mutations in the TBL1X gene alter sensitivity to thyroid hormone?

To determine the effect of mutations in the TBL1X gene on TH dependent signalling in liver cells generated from iPSCs.