Title |
Nonclassic Congenital Adrenal Hyperplasia
|
---|---|
Published in |
International Journal of Pediatric Endocrinology, May 2010
|
DOI | 10.1155/2010/625105 |
Pubmed ID | |
Authors |
Selma Feldman Witchel, Ricardo Azziz |
Abstract |
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 17% |
Unknown | 5 | 83% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 83% |
Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 83 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 19 | 23% |
Researcher | 16 | 19% |
Student > Master | 12 | 14% |
Student > Ph. D. Student | 10 | 12% |
Other | 7 | 8% |
Other | 14 | 17% |
Unknown | 5 | 6% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 51 | 61% |
Agricultural and Biological Sciences | 10 | 12% |
Nursing and Health Professions | 3 | 4% |
Biochemistry, Genetics and Molecular Biology | 2 | 2% |
Social Sciences | 2 | 2% |
Other | 5 | 6% |
Unknown | 10 | 12% |