Hereditary haemochromatosis presenting as diabetes and complicated with abnormal liver function, hypogonadism, osteoporosis: a case report / 中华内分泌代谢杂志

Hereditary hemochromatosis(HH) is relatively rare in the Chinese population, and the disease can involve multiple systems. It is easy to be missed and misdiagnosed due to nonspecific clinical manifestations. We report on a case with diabetes as the first diagnosis and being confirmed HH later. In addition to abnormal liver function, this patient also developed a variety of endocrine and metabolic diseases such as hypogonadism and osteoporosis. Included with this case report is a literature based discussion of clinical features, management of HH along with its relationship with endocrine dysfunction to improve disease understanding.

Pituitary deficiency after aneurysmal subarachnoid hemorrhage

OBJECTIVE: Aneurysmal subarachnoid hemorrhage puts patients at high risk for the development of pituitary insufficiency. We evaluated the incidence of pituitary dysfunction in these patients and its correlation with clinical outcome. METHODS: Pituitary function was tested in 66 consecutive patients in the first 15 days after aneurysmal subarachnoid hemorrhage. The following were measured in all patients: thyroid-stimulating hormone, free thyroxine, triiodothyronine, luteinizing hormone, follicle-stimulating hormone, total testosterone (in males), estradiol (in females), prolactin, serum cortisol, plasma adrenocorticotropic hormone, growth hormone and insulin growth factor. RESULTS: The endocrine assessment was made at a mean of 7.4 days (standard deviation ±6.6) after subarachnoid hemorrhage. Forty-four (66.7%) female and 22 (33.3%) male patients were evaluated. Thirty-nine patients (59.1%) had some type of pituitary dysfunction. Follicle-stimulating hormone/luteinizing hormone deficiency was the most frequent disorder (34.8%), followed by growth hormone/insulin growth factor (28.7%), adrenocorticotropic hormone (18.1%) and thyroid-stimulating hormone (9%). Seventeen (25.7%) patients showed deficiencies in more than one axis. A greater incidence of hormone deficiency was observed in patients with a Glasgow Coma Scale score ≤13 (t test, p = 0.008), Hunt-Hess grade ≥4 (t test, p<0.001), or Fisher grade 4 (t test, p = 0.039). Hormone deficiency was not significantly associated (p>0.05) with increased hospitalization or clinical outcome. CONCLUSION: Pituitary dysfunction was identified in a substantial portion of patients with previous aneurysmal subarachnoid hemorrhage, but no association was found between this dysfunction and poor clinical outcome. .

Technical Considerations to Prevent Postoperative Endocrine Dysfunction after the Fenestration of Suprasellar Arachnoid Cyst

OBJECTIVE: The endocrine dysfunction after the operation for suprasellar arachnoid cysts is not rare. The careful operation to prevent structures can prevent this complication, but it is not enough and effective to prevent it. Authors present technical surgical considerations to prevent this complication with a review of our suprasellar arachnoid cyst patients who had postoperative endocrine dysfunction. METHODS: From January 2002 to December 2009, eight patients who had suprasellar arachnoid cysts with visual impairment underwent surgery. The mean age was 57.1 years (range, 33-77). Preoperatively, their endocrine function was clinically normal, and laboratory hormonal levels were within normal ranges. Cyst fenestration was performed by craniotomy (n=6) or by a neuro-endoscopic procedure (n=2), and, simultaneously, along with a cyst wall biopsy. RESULTS: The surgery was uneventful in all eight patients, and there were no neurological morbidities. However, in four patients, endocrine dysfunction occurred postoperatively. We compared these four patients (group A) to the other 4 patients without endocrine dysfunction (group B) with intraoperative findings and with the histopathological findings of the cyst wall biopsy. The group A patients had more abundant vasculature on the cystic wall than the group B patients according to both the intraoperative findings and the histopathological findings. CONCLUSION: When performing a surgical cyst wall fenestration, surgeons should try to minimize the destruction of the cystic wall vasculature and not to make the fenestration at a site that contains many vascular striae.

Endocrine dysfunction after bone marrow transplantation during childhood and adolescence / 소아과

PURPOSE: Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. METHODS: One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis, age at BMT, conditioning regimen, presence of graft-versus-host disease (GVHD), growth pattern, thyroid function, and pubertal status were retrospectively reviewed to evaluate risk factors associated with endocrine dysfunction. RESULTS: Height standard deviation score (SDS) at BMT, after 1 year of BMT, and at the last visit were 0.08+/-1.04, -0.09+/-1.02, and -0.27+/-1.18, respectively (P=0.001). Height SDS significantly decreased in patients who received total body irradiation (TBI) (P=0.017). One of the patients who received TBI demonstrated growth hormone deficiency. Thirty (31.9%) of 94 patients had compensated hypothyroidism. Incidence of compensated hypothyroidism was higher among those who had GVHD (odds ratio 2.82, P=0.025). Of the 32 patients (17 males, 15 females) who were over 14 years in male and 13 years in female at the last visit, 16 (3 males, 13 females) had increased luteinizing hormone (LH) or follicle-stimulating hormone (FSH). Abnormal elevation of LH or FSH was more common in females (odds ratio 30.3, P=0.001). CONCLUSION: The most common endocrine dysfunction was ovarian insufficiency. Regular check-up for endocrine function needs to be required due to high incidence of endocrine dysfunction in patients with BMT.

Preliminary study of endocrine dysfunction in patients with Rathke's cleft cyst / 中华内分泌代谢杂志

A retrospective study of endocrine dysfunction in 65 patients with Rathke's cleft cyst (RCC) was conducted. Before surgical operation, most patients with RCC had various degrees of pituitary dysfunction.Impaired gonadotropin secretion and prolactinemia were the prevalent abnormalities. Erectile dysfunction or diminished libido in male and menstrual disorder or galactorrhea in female were frequently seen. The panhypopituitarism appeared in a few patients with RCC. The patients would benefit by surgical removal, however,attention should be paid to avoid new damage of the pituitary gland during operation.