Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study.
Two girls with DIDMOAD syndrome are presented. One also had severe megaloblastic-sideroblastic anaemia and the other several neurological manifestations. Both were short with defective growth hormone secretion. Computed tomography revealed empty sella in both girls; one had widespread atrophic cortical and cerebellar changes. High doses of thiamine improved the anaemia in the first case, increased C peptide secretion in both, but had no effect on the neurological abnormalities.
D000756:Anemia, Sideroblastic / Q000188:drug therapy; D002096:C-Peptide / Q000378:metabolism; D004652:Empty Sella Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D009422:Nervous System Diseases / Q000150:complications; D013831:Thiamine / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D014929:Wolfram Syndrome / Q000150:complications* / Q000378:metabolism
D002096:C-Peptide; D013006:Growth Hormone; D013831:Thiamine