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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.

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…