Androgen insensitivity syndrome: gonadal androgen receptor activity
To determine whether abnormalities of the androgen receptor previously observed in skin fibroblasts from patients with androgen insensitivity syndrome also occur in the gonads of affected individuals, androgen receptor activity in the gonads of a patient with testicular feminization syndrome was investigated. Using conditions for optimal recovery of androgen receptor from human testes established by previous studies, we detected the presence of a high-affinity (dissociation constant . 3.2 X 10(-10) mol/L), low-capacity (4.2 X 10(-12) mol/mg DNA), androgen-binding protein when tritium-labeled R1881 was incubated at 4 degrees C with nuclear extracts from the gonads of control patients or from a patient with testicular feminization syndrome but not when incubated at 37 degrees C. Thus this patient has an androgen receptor with a temperature lability similar to that of receptors from normal persons.
- Research Organization:
- Mayo Clinic, Rochester, MN
- OSTI ID:
- 5983065
- Journal Information:
- Am. J. Obstet. Gynecol.; (United States), Journal Name: Am. J. Obstet. Gynecol.; (United States) Vol. 150:5; ISSN AJOGA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy
Genetic basis of endocrine disease 4: The spectrum of mutations in the androgen receptor gene that causes androgen resistance
Related Subjects
59 BASIC BIOLOGICAL SCIENCES
AFFINITY
ANDROGENS
ANDROSTANES
ANIMAL CELLS
BIOCHEMISTRY
BODY
CHEMICAL BONDS
CHEMISTRY
CONNECTIVE TISSUE CELLS
DISEASES
ENDOCRINE DISEASES
FIBROBLASTS
GONADS
HORMONES
ISOTOPE APPLICATIONS
LABELLED COMPOUNDS
MALE GENITALS
ORGANIC COMPOUNDS
ORGANS
PATIENTS
RECEPTORS
SKIN
SOMATIC CELLS
STEROID HORMONES
STEROIDS
TEMPERATURE EFFECTS
TESTES
TRACER TECHNIQUES
TRITIUM COMPOUNDS