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Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation

Article Abstract:

Some women with complications due to overabundance of male hormones appear to have an inherited defect of the gene, called CYP21, that produces an enzyme that breaks down the responsible hormone. Twenty-two women with abnormal hair growth and abnormally long intervals between menstruation had DNA analysis performed on blood samples. Results were compared between the eight women who produced exaggerated amounts of the male hormone 17-hydroxyprogesterone in response to stimulation with injections of acute corticotropin (ACTH) and the 14 women who did not. Only two women in the former group had no abnormality of the CYP21 gene whereas only one woman in the latter group had such an abnormality. This suggests that women who produce abnormal amounts of 17-hydroxyprogesterone are carriers of a defective gene.

Author: Azziz, Ricardo, Owerbach, David
Publisher: Elsevier B.V.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 1995
Research, Abnormalities, Genetic aspects, Molecular genetics, Adrenal cortex

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Prevalence of 3beta-hydroxysteroid dehydrogenase-deficient nonclassic adrenal hyperplasia in hyperandrogenic women with adrenal androgen excess

Article Abstract:

Many women with excessive androgen production by the adrenal glands do not have 3beta-hydroxysteroid dehydrogenase-deficient nonclassic adrenal hyperplasia. This condition often causes elevated androgen levels but in a study of 30 women with elevated androgen levels, none had the condition.

Author: Moran, Carlos, Azziz, Ricardo, Boots, Larry R., Potter, H. Downing, Reyna, Rosario
Publisher: Elsevier B.V.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 1999
Diagnosis

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21-hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study

Article Abstract:

21-hydroxylase deficient adrenal hyperplasia is a progressive disorder that becomes worse with age, according to a study of 220 female patients. This condition causes excess levels of male sex hormones, which are normally present in small quantities in women.

Author: Moran, Carlos, Azziz, Ricardo, Carmina, Enrico, Dewailly, Didier, Fruzzetti, Franca, Ibanez, Lourdes, Knochenhauer, Eric S., Marcondes, Jose A.M., Mendonca, Berenice B., Pignatelli, Duarte, Pugeat, Michel, Rohmer, Vincent, Speiser, Phyllis W., Witchel, Selma F.
Publisher: Elsevier B.V.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 2000
Development and progression

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Subjects list: Physiological aspects, Androgens, Adrenogenital syndrome, Congenital adrenal hyperplasia
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