Hormonal studies in obligate heterozygotes and siblings of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia.

Abstract

Hormonal response to ACTH stimulation and HLA genotyping were determined in families of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia. Neither hormonal measurements nor HLA genotyping were useful for the detection of heterozygosity in the families.

• Authors: S Pang, L S Levine, F Lorenzen, D Chow, M Pollack, B Dupont, M Genel, M I New
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 50 Issue 3 Pg. 586-9 (Mar 1980) ISSN: 0021-972X [Print] United States
• PMID: 6244328 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Adrenal Cortex Hormones
• HLA Antigens
• Hydroxyprogesterones
• Desoxycorticosterone
• Adrenocorticotropic Hormone
• Steroid Hydroxylases
• Cortodoxone
• Hydrocortisone

Topics

• Adrenal Cortex Hormones (blood)
• Adrenal Hyperplasia, Congenital (genetics, immunology, physiopathology)
• Adrenocorticotropic Hormone
• Adult
• Cortodoxone (blood)
• Desoxycorticosterone (blood)
• Female
• Genetic Carrier Screening
• HLA Antigens (analysis)
• Heterozygote
• Humans
• Hydrocortisone (blood)
• Hydroxyprogesterones (blood)
• Male
• Steroid Hydroxylases (deficiency)