1995
DOI: 10.1136/adc.73.3.251
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Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study.

Abstract: 6 Gibbons RJ, Suthers GK, Wilkie AOM, et al. X-linked a-thalassemia/mental retardation (ATR-X) syndrome: localisation to Xql 2-q21.31 by X inactivation and linkage analysis.

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Cited by 22 publications
(16 citation statements)
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“…In our patient, the neurohypophysis was completely atrophic and reduced to a small crescent of glial tissue at the posterior of the adenohypophysis. Neuroradiologists have reported a loss of signal intensity in the posterior pituitary, indicating an absence or degeneration of the neurohypophysis [7, 25]; some patients have been found to have “empty sellae” [27]. …”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…In our patient, the neurohypophysis was completely atrophic and reduced to a small crescent of glial tissue at the posterior of the adenohypophysis. Neuroradiologists have reported a loss of signal intensity in the posterior pituitary, indicating an absence or degeneration of the neurohypophysis [7, 25]; some patients have been found to have “empty sellae” [27]. …”
Section: Discussionmentioning
confidence: 99%
“…Functional tests of the pituitary have shown deficiencies in somatotropic and corticotropic function in a significant proportion of patients, indicating possible additional involvement of the anterior pituitary [3, 27] or hypothalamic-releasing hormone neurons. Carson et al [3] also described an absence of the posterior lobe of the pituitary in neuropathologic examination of one of their patients.…”
Section: Discussionmentioning
confidence: 99%
“…Symptoms of hypothalamic dysfunction such as diabetes insipidus and growth retardation have been documented in Wolfram syndrome patients (Barrett et al, 1995;Hansen et al, 2005;Hofmann et al, 1997;Soliman et al, 1995). Specific expression of Wfs1 in the compact part of the dorsomedial hypothalamic nucleus, which is the only brain region where glucagon-like peptide-2 (GLP-2) receptors are found, suggests a role in body weight regulation and feeding behavior (TangChristensen et al, 2000).…”
Section: Relationship Of Wfs1 Expression To Wolfram Syndromementioning
confidence: 99%
“…Neurological and psychiatric abnormalities are also well-known components of WFS [3,5,[21][22][23] and their frequency and severity were positively correlated with the patient's age. It has also been reported that patients with WFS could be found to have short stature and GH deficiency [24], but till now no pituitary exploration was performed in any other study.…”
Section: Discussionmentioning
confidence: 96%