Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status | Zendy

Vita Dolžan | Zendy; Janez Preželj | Zendy; Blanka VidanJeras | Zendy; Katja Breskvar | Zendy

Open Access

Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

Author(s) -

Vita Dolžan,

Janez Preželj,

Blanka VidanJeras,

Katja Breskvar

Publication year - 1999

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.0.1410132

Subject(s) - medicine , endocrinology , 21 hydroxylase , human leukocyte antigen , acth stimulation test , stimulation , exon , population , basal (medicine) , congenital adrenal hyperplasia , biology , adrenocorticotropic hormone , gene , hormone , antigen , insulin , genetics , environmental health

To study the incidence of 21-hydroxylase deficiency in Slovenian hyperandrogenic women, at the gene level. Previous endocrine studies indicated large differences in the incidence of 21-hydroxylase deficiency in hyperandrogenic women. The predictive values of the 17-hydroxyprogesterone (17-OHP) response to ACTH stimulation and of HLA typing in screening for carrier status were re-evaluated.

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