| title: | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Estonia: prevalence, relationship between genotype and clinical picture with particularly interest on blood pressure and short-term growth |
|---|---|
| reg no: | ETF5835 |
| project type: | Estonian Science Foundation research grant |
| subject: |
3.3. Clinical Medicine |
| status: | accepted |
| institution: | TU Faculty of Medicine |
| head of project: | Vallo Tillmann |
| duration: | 01.01.2004 - 31.12.2007 |
| description: | Aims:1) to study the prevalence of congenital adrenal hyperplasia (CAH) in Estonia. 2) to identify mutations in 21-hydroxylase gene (CYP21) causing CAH in Estonia. 3) to study the relationship between clinical forms of 21-hydroxylas deficiency and genotype. 4) to study arterial blood pressure in patients with CAH and factors influencing blood pressure (genotype, treatment, diet). 5) to establish the pattern of short-term growth in children with CAH. Subjects: all pateint with confirmed diagnosis of CAH (20-22 patients) or suspicion for CAH (about 10-15 patients) in Estonia are asked to participate in the study. Methods: 1) hormonal investigations (17-OH progesterone; plasma renin activity; Synacthen test, if necessary); 2) genetic tests ( 8 most common CYP21 mutations are screened by PCR); 3) 24-hours blood pressure monitoring; 4) 3-day dietary survey, 5) 6-8 children are measured daily over 4-8 months period by their parents to establish the pattern of short-term growth (number, mean amplitude and length of growth spurts, stases, etc) in CAH. Outcome: identifying the mutations in CYP21 gene causing CAH in Estonia will lead to antenatal diagnosis and treatment of CAH. Early treatment with glucocorticoids decrease the symptoms of virilization in newborn girls and reduce the need for further constructive surgeries. Blood pressure 24hrs monitoring will identify patients with elevated blood pressure and possible factors influencing blood pressure in CAH (genotype, treatment, diet, etc). We will establish the pattern of short-term growth in children with CAH which will help to understand the mechanism of growth failire in this disease (small growth spurts or prolonged time in stases or combination of both). This could lead to new studies how to optimize the treatment in children with CAH without affecting their growth. |
| project group | ||||
|---|---|---|---|---|
| no | name | institution | position | |
| 1. | Kaur Liivak | TÜ Lastekliinik | doktorant | |
| 2. | Vallo Tillmann | TU Faculty of Medicine | senior research fellow | |
| 3. | Simon Tobi | NationalGenetics Reference Lab., St Marys Hospital Manchester, UK | ||