Mutation Analysis of 17α-Hydroxylase
PseudohermaphroditismCongenital Adrenal Hyperplasia1 moreTo elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
Final Height in Patients With CAH
Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is the most common inherited disorder in the adrenal gland in children. Growth is usually affected in CAH patients either due to the disease itself or treatment consequences.
Dynamic Hormone Diagnostics in Endocrine Disease
Adrenal InsufficiencyCongenital Adrenal Hyperplasia4 moreThe study will investigate 27 hour profiles of hormones in the subcutaneous tissue of healthy subjects and patients with Addison's, Congenital Adrenal Hyperplasia, Growth Hormone Deficiency, acromegaly, Cushings and Primary Hyperaldosteronism during conventional diagnostic and therapeutic follow-up. The 27 hour monitoring by ULTRADIAN takes into account the rhythm of hormones throughout the day. It is hoped that this information may in the future improve and simplify diagnostic procedures. Follow-up of patients in endocrinology still remains difficult including clinical signs of over and under-treatment, questionnaires of quality of life and blood testing necessitating often retesting. Simplification of the diagnostic procedure by obtaining detailed knowledge about the rhythm of hormones may contribute to the improvement and individualization of treatment and may decrease morbidity and mortality of endocrine patients.