Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X).

Congenital combined pituitary hormone deficiency (CPHD) is associated with deficiencies of anterior pituitary hormones. PROP1 gene mutations are often responsible for CPHD, but few such cases have been reported in Japan. This study describes a 37-year-old Japanese man with CPHD, treated with hydrocortisone, testosterone, and L-thyroxine, who was evaluated for adult growth hormone deficiency (GHD). Gene analysis revealed a previously unknown PROP1 mutation (R112X). After 10 months of recombinant human growth hormone (rhGH) administration, cortisol and urinary free cortisol levels were significantly lower than before therapy. This case underscores the importance of reassessing hypothalamic-pituitary-adrenal axis function in GHD patients, especially those with a PROP1 mutation, during rhGH therapy.

Gas-containing pericardial abscess in a type 2 diabetic patient.

A 63-year-old male with type 2 diabetes mellitus was admitted to our hospital with fever and chest pain. An echocardiogram, chest CT and MRI showed the gas-containing pericardial abscess located posteriol to the right atrium. He was initially treated by thoracoscopic pericardial fenestration to set a drainage tube in the pericardial abscess. However, the surgical treatment was discontinued because of a large amount of bleeding from the abscess wall. The patient was then treated by continued administration of antibiotics and gamma-globulin. The inflammatory reactions improved and shrinkage of the abscess was confirmed.

Case of adrenal incidentaloma in which autonomous cortisol production became clear during a very short term.

A 57-year-old woman was admitted to the hospital for the further evaluation of a left adrenal incidentaloma measuring 45 mm x 33 mm. She had no signs of the clinical manifestation of hypercortisolism. An endocrine evaluation revealed that her ACTH level was normal and cortisol values were almost normal pattern excluding the value at 9 PM slightly rising, however, the cortisol was not completely suppressed by the overnight administration of 1 mg dexamethasone. These findings indicated that subtle abnormalities of the hypothalamo-pituitary-adrenal axis were present in this case. After 3 months, surprisingly, the ACTH was suppressed to low levels. Further hormonal investigations revealed that the cortisol level was normal but had an abnormal diurnal rhythm and was not suppressed completely by a 1 mg or an 8 mg overnight dexamethasone dose. Adrenal scintigraphy revealed positive uptake in the left adrenal tumor with no uptake in the right adrenal gland. The patient underwent a left laparoscopic adrenalectomy. Microscopically, the tumor displayed histopathological features in common with ACTH-independent macronodular adrenocortical hyperplasia, including clear cell predominance, a pattern of small compact nests in clear cell areas, and a cord-like arrangement of small compact cells. An in situ hybridization study demonstrated the hybridization signals for P-450scc, 3beta-HSD, P-450c21, P-45011beta, and P-45017a which were observed in the clear cells as well as compact cells, the compact cells being more intensely stained. This case indicates the ability of autonomous cortisol production to become clear during a very short term and a more detailed and careful short-time follow-up should be recommended in patients with adrenal incidentalomas.