Carpenter's syndrome with empty sella and abnormal LRH and TRH response.
Two sisters with Carpenter's syndrome and empty sella have been evaluated for pituitary function. The TRH injection brought a normal response of TSH and prolactin. There were no change in FSH and LH, but a paradoxical increase of growth hormone and cortisol. The injection of LRH brought a normal response of FSH and LH, no change in TSH and cortisol values and a paradoxical increase in prolactin and growth hormone.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D003398:Craniosynostoses / Q000235:genetics / Q000503:physiopathology*; D004652:Empty Sella Syndrome / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D007987:Gonadotropin-Releasing Hormone; D013006:Growth Hormone / Q000378:metabolism; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D007986:Luteinizing Hormone / Q000378:metabolism; D010902:Pituitary Gland / Q000503:physiopathology*; D011388:Prolactin / Q000378:metabolism; D013576:Syndactyly / Q000235:genetics / Q000503:physiopathology; D013972:Thyrotropin / Q000378:metabolism; D013973:Thyrotropin-Releasing Hormone
D007987:Gonadotropin-Releasing Hormone; D013973:Thyrotropin-Releasing Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013006:Growth Hormone; D006854:Hydrocortisone