Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.
Adrenal Insufficiency/diagnosis/etiology ; Adult ; Brain/diagnostic imaging ; Depression/etiology ; Female ; Hepatolenticular Degeneration/*complications ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/diagnosis/etiology ; Liver Cirrhosis/complications/diagnostic imaging ; Magnetic Resonance Imaging ; Steroids/therapeutic use ; Thyrotropin-Releasing Hormone/therapeutic use

Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.
Adrenal Insufficiency/diagnosis/etiology ; Adult ; Brain/diagnostic imaging ; Depression/etiology ; Female ; Hepatolenticular Degeneration/*complications ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/diagnosis/etiology ; Liver Cirrhosis/complications/diagnostic imaging ; Magnetic Resonance Imaging ; Steroids/therapeutic use ; Thyrotropin-Releasing Hormone/therapeutic use

A middle-aged male patient with recurrent hypoglycemia was diagnosed as insulinoma according to the symptoms and the laboratory tests. Laboratory tests also showed low cortisol and adrenocortico-tropic hormone (ACTH) levels, therefore adrenal insufficiency was diagnosed and hydrocortisone was given. The hormone replacement therapy was terminated after surgery, and ACTH and cortisol levels returned to normal.
Adrenal Insufficiency ; drug therapy ; etiology ; Adrenocorticotropic Hormone ; blood ; Anti-Inflammatory Agents ; therapeutic use ; Humans ; Hydrocortisone ; therapeutic use ; Insulinoma ; complications ; diagnosis ; Male ; Middle Aged ; Treatment Outcome

OBJECTIVESepsis and septic shock remain a common problem that results in significant mortality and morbidity in pediatric intensive care units (PICU). According to literature, the use of more physiologic steroid replacement therapy is associated with hemodynamic and survival benefits in adult patients with relative adrenal insufficiency (RAI) and catecholamine-resistant septic shock. But little information is available in children. The aim of the current prospective study was to determine the prevalence of adrenal insufficiency in children with sepsis and septic shock using a low-dose adrenocorticotropic hormone (ACTH) stimulation test (1 microg/1.73 m2) in children.

METHODSThe authors performed cortisol estimation at baseline and after low-dose (1 microg/1.73 m2) ACTH stimulation at 30 mins in children during the first 24 hours in patients with sepsis or septic shock admitted to our PICU. Adrenal insufficiency was defined as a response < or = 90 microg/L. Absolute adrenal insufficiency (AAI) was further defined as baseline cortisol (T0) < 200 microg/L and RAI insufficiency by T0 > or = 200 microg/L.

RESULTSSixty-two consecutive cases with sepsis and septic shock admitted to PICU of Shanghai Jiaotong University Affiliated Children's Hospital from April, 2006 to March, 2007. The median age was 37.6 months (range, 2 - 168 months), and their gender distribution was 42 (67.7%) males and 20 (32.3%) females, 53 cases had sepsis (85.5%) and 9 had septic shock (14.5%). The mean pediatric critical illness score (PCIS) was 79.3 +/- 9.2 and median pediatric risk of mortality score (PRMSIII) 11.3 (5 - 19), respectively. Overall mortality of sepsis and septic shock was 27.42%. The evaluation of adrenal insufficiency was conducted as follows. (1) The mean cortisol levels at baseline (T0) and 30 mins after ACTH stimulation (T1) were (318.6 +/- 230.4) microg/L, (452.3 +/- 230.7) microg/L and (454.7 +/- 212.7) microg/L, (579.3 +/- 231.9) microg/L in patients with severe sepsis and septic shock group, respectively. There were no significant difference between the two groups (P > 0.05). (2) The proportion of patients with adrenal insufficiency in the study population was 40.3% as defined by a response < or = 90 microg/L post test. The proportion of patients with adrenal insufficiency in sepsis and septic shock were 39.6% and 44.4%, respectively (chi2) = 0.073, P > 0.05). (3) The serum T0 and T1 levels were (320.5 +/- 223.9) microg/L, (462.3 +/- 212.0) microg/L and (384.3 +/- 258.3) microg/L, (500.7 +/- 470.6) microg/L, respectively, and the proportion of patients with adrenal insufficiency were 37.8% and 47.1% in the survivors and the dead (P > 0.05). The levels of T0 and T1 were related to the PCIS (P < 0.05). The morbidity of adrenal insufficiency was not related to the PCIS, PRISMIII, and number of organ that developed functional insufficiency (P > 0.05).

CONCLUSIONSAdrenal insufficiency may occur in patients with sepsis and septic shock in children. ACTH stimulation test may be helpful to determine whether corticosteroid therapy has a survival benefit in patients with relative adrenal insufficiency. A low-dose ACTH stimulation test can be used to evaluate the adrenal function status of severe sepsis and septic shock in children.

Adolescent ; Adrenal Insufficiency ; diagnosis ; etiology ; Adrenocorticotropic Hormone ; metabolism ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Intensive Care Units, Pediatric ; Male ; Prospective Studies ; Sepsis ; physiopathology ; Shock, Septic ; physiopathology ; Systemic Inflammatory Response Syndrome ; physiopathology

Sudden ascent to high altitudes beyond 2,438 m can cause life-threatening complications such as acute mountain sickness and high altitude cerebral and pulmonary oedema. We present a case of pituitary apoplexy in a young man who ascended to high altitude gradually, after proper acclimatisation. He developed headache, nausea, vomiting and persistent hypotension. Magnetic resonance imaging revealed an enlarged pituitary gland with haemorrhage. His hormonal estimation showed acute adrenal insufficiency due to corticotropin deficiency. The patient responded well to conservative medical management with hormonal replacement therapy. This is most likely the first reported case of high altitude-induced pituitary apoplexy in the literature.
Acclimatization ; Adrenal Insufficiency ; complications ; Adrenocorticotropic Hormone ; deficiency ; Adult ; Altitude ; Altitude Sickness ; complications ; Brain ; pathology ; Hormone Replacement Therapy ; methods ; Humans ; Hypotension ; physiopathology ; Intracranial Hemorrhages ; physiopathology ; Magnetic Resonance Imaging ; methods ; Male ; Pituitary Apoplexy ; diagnosis ; etiology ; Pituitary Gland ; physiopathology