SVIBOR - Project code: 3-01-094


Strossmayerov trg 4, HR - 10000 ZAGREB
tel.: +385 1 459 44 44, fax: +385 1 459 44 69


SVIBOR - Collecting Data on Projects in Croatia

Project code: 3-01-094


Main researcher: DUMIĆ, MIROSLAV (37104)

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
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.

Keywords: Adrenal glands, gonads, congenital adrenal hyperplasia, gonadal dysgenesis, intersex, prenatal diagnosis, screening

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.


  1. 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.

  2. 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

  3. 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.


  1. Name of institution: Hospital for Sick Children, Great Ormond Street
    Type of institution: International organization
    City: WC1N 3JH - London, United Kingdom

  2. 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

  3. Name of institution: Stomatološki fakultet Sveučilišta u Zagrebu
    Type of institution: Economical/Production
    City: 10000 - Zagreb, Croatia


  1. Name: Šećerna bolest u djece
    Type of achievement: Teaching aids and educatio
    Authors: Dumić Miroslav

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Last update: 10/12/95