Familial hypopituitarism associated with an enlarged pituitary fossa and an empty sella.
We report an 8-year follow-up of three sisters born of a consanguineous marriage and who originally presented with short stature and enlarged pituitary fossa. All have shown progressive failure of anterior pituitary hormone function. In addition, the two eldest sisters were eventually found to have an empty sella while the youngest, who initially showed an enhancing intrasellar mass consistent with a tumour, later showed an empty sella. A familial pituitary tumour developing early in childhood but subsequently undergoing involution could account for these findings.
D000293:Adolescent; D002648:Child; D004652:Empty Sella Syndrome / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005500:Follow-Up Studies; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007018:Hypopituitarism / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D010902:Pituitary Gland / Q000000981:diagnostic imaging*; D011388:Prolactin / Q000097:blood; D012658:Sella Turcica / Q000000981:diagnostic imaging; D013960:Thyroid Function Tests; D014057:Tomography, X-Ray Computed
D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013006:Growth Hormone; D006854:Hydrocortisone