Type of research: applied Duration from: 04/30/91. to 12/31/95. Papers on project (total): 34
Papers on project quoted in Current Contents: 15
Institution name: Medicinski fakultet, Zagreb (108) Department/Institute: Department of Pediatrics Division of endocrinology and diabetes Address: KBC Rebro, Kišpatićeva 12, City: 10000 - Zagreb, Croatia
Communication
Phone: 385 (0)1 213-087
Fax: 385 (0)1 210-900
Phone: 385 (0)1 2333-233, ku}ni 556
Summary: This is a follow up of our previous studies on adrenal
andgonadal disorders. Molecular biology, biochemical, clinical and
epidemiological studies will be used to encounter the problem, with the
special emphasis on congenital adrenal hyperplasia. Early diagnosis and
therapy are essential for favorable prognosisin otherwise potentially
lethal disease. It is one of the mostfrequent human diseases with
autosomal-recessive mode of inheritance. We shall continue to investigate
natural history of cardiac,renal and autoimmune involvement in patients
with gonadal dysgenesis, as well as all forms of intersexuality. New
methods (DNA analysis) and tests (serum levels of very long chain
fattyacids, androgen receptors in cultured fibroblasts) will be employed
for advancement in diagnostics and treatment of adrenal and gonadal
disorders.
Research goals: Besides the already established programme for
prenatal diagnosis, we shall initiate the prenatal therapy with
dexamethasone. Neonatal screening programme (levels of
17-hydroxyprogesterone from capilary blood spot) for congenital adrenal
hyperplasia (CAH) is ready for launching. We shall continue to follow
effectsof genital surgery in our female patients, especially in regard
oftheir reproductive abilities. Fertility and psychosocial orientation
will be topics of interest in both sexes. We aregoing to study the
prevalence of non-classical forms of CAH infamilies with classical index
cases. We shall try to establishthe dosage schedule sufficent for
supression of hyperandrogenismand disappearence of clinical symptoms in
patients with clinically evident non-classical form of CAH. Relationship
of HLA antigens B14,DR1 with this form of disease established for other
populations, does not stand for ours, so we shall try to find anyother. We
shall also study the prevalence of non-classical CAH inpatients with
hirsutism and infertility. We shall also to try toperform comprehensive
investigations (lab and clinical) indifferent forms of intersex.
Unfortunately, we can not perform the androgen receptor studies which are
the invaluable tool for investigations of male psudohermaphroditism, and
reason that still some of our patients are misdiagnosed as males and
surgically repaired in that sense. We hope to start with this studies in
near future.
COOPERATION - PROJECTS
Name of project
: Inborn errors of steroidogenesis Name of institution: New York Hospital, Cornell Medical Center City: N.Y.10021 - New York, U.S.A.
Name of project
: Molekularna i imunogenetička istraživanja
bolesti vezanih uz HLA Name of institution: Centar za tipizaciju tkiva Urološke klinike
KBC-a City: 10000 - Zagreb, Croatia
Name of project
: Prenatal diagnosis and treatment of congenital
adrenal hyperplasia (Croatian-USA project) Name of institution: New York Hospital, Cornell Medical Center City: N.Y.10021 - New York, U.S.A.
COOPERATION - INSTITUTIONS
Name of institution
: Hospital for Sick Children, Great Ormond
Street Type of institution: International organization City: WC1N 3JH - London, United Kingdom
Name of institution
: I.N.S.E.R.M. Unite de recherches sur la
croissance et la differenciation cellulaire. Hopital Debrousse Type of institution: University/Faculty City: 69322 - Lyon, France
Name of institution
: Stomatološki fakultet Sveučilišta u Zagrebu Type of institution: Economical/Production City: 10000 - Zagreb, Croatia