Biomaterial Database

Complete androgen insensitivity with a normal amount of 5 alpha-dihydrotestosterone-binding activity in labium majus skin fibroblasts. 1979

M Kaufman, and L Pinsky, and P A Baird, and B C McGillivray

We have studied labium majus skin fibroblast strains from six unrelated, previously unreported, patients with complete androgen insensitivity (CAI). Four have markedly reduced specific 5 alpha-dihydrotestosterone-binding (DHT-binding) activity (receptor-negative). The other two (receptor-positive) have normal activities in whole-cell homogenates, the 100,000g supernatant of cell sonicates prepared in 0.4 MKCl, purified whole nuclei, and the nuclear fraction that resists extraction with 0.4 MKCl. In one of the two, the DHT-binding macromolecules in the cytosol and 0.4 M KCl-extractable nuclear fraction have normal molecular sieving profiles and binding activities. One of the receptor-positive patients has maternally related affected relatives in three successive genetations. Appreciable unexplained interexperimental variation of the DHT-binding activities in genital skin fibroblast strains demands that multiple assays be performed on a strain before its receptor status is classified quantitatively. In our experience to date with genital skin fibroblasts, four of 13 propositi with CAI have been receptor-positive.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D011944	Receptors, Androgen	Proteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL NUCLEUS where it induces transcription of specific segments of DNA.	Androgen Receptors,5 alpha-Dihydrotestosterone Receptor,Androgen Receptor,Dihydrotestosterone Receptors,Receptor, Testosterone,Receptors, Androgens,Receptors, Dihydrotestosterone,Receptors, Stanolone,Stanolone Receptor,Testosterone Receptor,5 alpha Dihydrotestosterone Receptor,Androgens Receptors,Receptor, 5 alpha-Dihydrotestosterone,Receptor, Androgen,Receptor, Stanolone,Stanolone Receptors,alpha-Dihydrotestosterone Receptor, 5
D011987	Receptors, Steroid	Proteins found usually in the cytoplasm or nucleus that specifically bind steroid hormones and trigger changes influencing the behavior of cells. The steroid receptor-steroid hormone complex regulates the transcription of specific genes.	Corticosteroid Receptors,Receptors, Corticosteroid,Steroid Receptors,Corticosteroid Receptor,Receptors, Steroids,Steroid Receptor,Receptor, Corticosteroid,Receptor, Steroid,Steroids Receptors
D002467	Cell Nucleus	Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)	Cell Nuclei,Nuclei, Cell,Nucleus, Cell
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D003600	Cytosol	Intracellular fluid from the cytoplasm after removal of ORGANELLES and other insoluble cytoplasmic components.	Cytosols
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D005835	Genitalia	The external and internal organs involved in the functions of REPRODUCTION.	Accessory Sex Organs,Genital Organs,Sex Organs, Accessory,Genital System,Genitals,Reproductive Organs,Reproductive System,Accessory Sex Organ,Genital,Genital Organ,Genital Systems,Organ, Accessory Sex,Organ, Genital,Organ, Reproductive,Organs, Accessory Sex,Organs, Genital,Organs, Reproductive,Reproductive Organ,Reproductive Systems,Sex Organ, Accessory,System, Genital,System, Reproductive,Systems, Genital,Systems, Reproductive
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man