Hypothalamic-pituitary function in the Bardet-Biedl syndrome.
Four siblings with classic Bardet-Biedl syndrome were studied. The brother had hypogonadism of testiculr origin, with high gonadotropin levels and exaggerated responses to luteinizing-hormone-releasing hormone, whereas the three sisters showed a normal hypothalamic-pituitary-gonadal axis. The remaining pituitary hormone function was intact.
D000293:Adolescent; D000328:Adult; D001786:Blood Glucose; D002675:Child, Preschool; D002996:Clomiphene; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007849:Laurence-Moon Syndrome / Q000235:genetics / Q000503:physiopathology*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010375:Pedigree; D011388:Prolactin / Q000097:blood; D013972:Thyrotropin / Q000097:blood
D001786:Blood Glucose; D002996:Clomiphene; D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013006:Growth Hormone; D006854:Hydrocortisone