Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait.
Clinical evidence of adrenal androgen hyperfunction (premature pubarche, hirsutism, amenorrhea) occurred in the studied proband, her mother, maternal aunt (twin sisters), and maternal great-grandmother. The basal levels of androgen in the first three were variably elevated. In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Of particular importance is the fact that neither the proband nor her mother or maternal aunt had the type of response seen in homozygotes presenting the attenuated form of congenital adrenal hyperplasia. The disorder appears to be a familial condition resulting in excessive levels of adrenal androgens beginning during childhood years, causing hirsutism and amenorrhea and interfering with normal pubertal and adult ovarian function. Glucocorticoid therapy suppresses adrenal androgen levels; in two individuals, conception occurred twice in each during such treatment in otherwise amenorrheic individuals. The pattern of transmission of the disorder appears to be either autosomal or X-linked dominant, and not linked to the homologous leucocytic antibodies (HLA) region of the sixth chromosome.
D000293:Adolescent; D000308:Adrenocortical Hyperfunction / Q000097:blood / Q000235:genetics*; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D002648:Child; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006628:Hirsutism / Q000209:etiology; D006801:Humans; D010375:Pedigree; D011629:Puberty, Precocious / Q000209:etiology; D014960:X Chromosome