Results 281 to 290 of about 423,582 (318)
Some of the next articles are maybe not open access.
Congenital Adrenal Hyperplasia
AJN, American Journal of Nursing, 1976The child with congenital adrenal hyperplasia can lead a normal life provided the diagnosis is made early. But daily adjustment of medication makes up the day of families whose children have this genetically determined condition. Although uncommon statistically, the condition poses real problems to the parents and staff who manage the child's health ...
openaire +3 more sources
Nonclassic adrenal hyperplasia
Reviews in Endocrine and Metabolic Disorders, 2008Nonclassic adrenal hyperplasia is most commonly attributable to mutations in CYP21A2 (also termed CYP21) encoding steroid 21-hydroxylase. Partial deficiency of this enzyme causes an imbalance in cortisol synthesis with consequent adrenal androgen excess.
Phyllis W. Speiser, Phyllis W. Speiser
openaire +3 more sources
Congenital Adrenal Hyperplasia
Urologic Clinics of North America, 1977SUMMARY In summary, the term congenital adrenal hyperplasia refers to a group of inherited disorders of adrenal steroidogenesis that frequently causes ambiguous genitalia in utero. 21-hydroxylase and 11-hydroxylase deficiencies, which account for more than 95 per cent of the cases, cause ambiguous genitalia in the female due to virilization of the ...
Janet H. Silverstein, Stuart Handwerger
openaire +3 more sources
Congenital adrenal hyperplasia
The Lancet, 2005Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency.
Deborah P Merke, Stefan R. Bornstein
openaire +3 more sources
Unilateral Adrenal Hyperplasia
Southern Medical Journal, 1994A case of unilateral primary adrenal hyperplasia, without concomitant hypokalemia, is presented. After surgical removal of the gland, a complete remission occurred. This rare condition may, in fact, be more frequent than thought as it can coexist with normokalemia.
A Coimbra-Peixoto +3 more
openaire +2 more sources
Congenital adrenal hyperplasia
Dermatologic Therapy, 2008The congenital adrenal hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the congenital adrenal hyperplasias are associated with decreased cortisol production and excessive adrenal sex steroid secretion.
Selma F. Witchel, Cem Demirci
openaire +3 more sources
Endocrine Practice, 2016
OBJECTIVE Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to homozygous CYP21A2 mutations, or perhaps from heterozygous carrier status.
H. Falhammar, D. Torpy
semanticscholar +1 more source
OBJECTIVE Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to homozygous CYP21A2 mutations, or perhaps from heterozygous carrier status.
H. Falhammar, D. Torpy
semanticscholar +1 more source
Congenital Adrenal Hyperplasia
Pediatrics In Review, 20001. Lenore S. Levine, MD* 1. 2. *Director of Pediatric Endocrinology, Professor of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, NY. After reading this articles, readers should be able to: 1. List the most common cause of ambiguous genitalia in the female infant. 2. Describe the hallmark of 21-hydroxylase
openaire +3 more sources
Congenital adrenal hyperplasias
Best Practice & Research Clinical Endocrinology & Metabolism, 2001Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult.
openaire +3 more sources