Search for a trial

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…

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

The physiology of glucagon-like peptide-1 receptor expression in patients with endogenous hyperinsulinism: correlation with histopathology

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…