{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T09:24:54Z","timestamp":1774949094353,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T00:00:00Z","timestamp":1444867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Male patients with the X\u2010linked <jats:styled-content style=\"fixed-case\">IGSF<\/jats:styled-content>1 deficiency syndrome are characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency and occasionally transient partial growth hormone deficiency. Thyroid hormone plays a vital role in brain development and functioning, and while most patients receive adequate replacement therapy starting shortly after birth, it is unknown whether this syndrome is accompanied by long\u2010term impaired cognitive functioning. We therefore assessed cognitive functioning in male patients with <jats:styled-content style=\"fixed-case\">IGSF<\/jats:styled-content>1 deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifteen adult male patients with <jats:styled-content style=\"fixed-case\">IGSF<\/jats:styled-content>1 deficiency participated in neuropsychological assessment of executive functioning and memory, and completed validated questionnaires on health\u2010related quality of life (<jats:styled-content style=\"fixed-case\">HRQ<\/jats:styled-content>oL), mood and fatigue. Results were compared to data from previous studies by our department: 54 healthy controls (76 for the attention task) for the test battery and 191 healthy controls for the questionnaires.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients had central hypothyroidism, and twelve were treated with levothyroxine. Patients performed worse than controls in tasks that required attentional control (Trail Making Test, Letter\u2010Digit Substitution Test, and Sustained Attention to Response Task) (all <jats:italic>P<\/jats:italic> &lt; 0\u00b7001). Memory was unaffected. In addition, patients reported more mental fatigue and reduction of activity (Multidimensional Fatigue Inventory) (both <jats:italic>P<\/jats:italic> &lt; 0\u00b701), while <jats:styled-content style=\"fixed-case\">HRQ<\/jats:styled-content>oL and mood reports were not different from controls. Age at the start of replacement therapy and current thyroxine levels were not related to outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Adult male patients with <jats:styled-content style=\"fixed-case\">IGSF<\/jats:styled-content>1 deficiency exhibit mild deficits in attentional control on formal testing. This finding was not related to the age at start of replacement therapy, or current levothyroxine treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12947","type":"journal-article","created":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T10:40:37Z","timestamp":1442832037000},"page":"896-903","source":"Crossref","is-referenced-by-count":19,"title":["Mild deficits in attentional control in patients with the <scp>IGSF<\/scp>1 deficiency syndrome"],"prefix":"10.1111","volume":"84","author":[{"given":"S.D.","family":"Joustra","sequence":"first","affiliation":[{"name":"Department of Medicine Division of Endocrinology Leiden University Medical Center Leiden The Netherlands"},{"name":"Department of Pediatrics Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.D.","family":"Andela","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Endocrinology Leiden University Medical Center Leiden 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